13 Matching Annotations
  1. Last 7 days
  2. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    5
    1. ClingenBaseline 05 Nov 2026
      21F/35ASUnilateral PCCVHL3c.548C>G (Novel)p.(Ser183Trp)Substitution (missense)Disease causing

      PatientID: 21

      KindredID: 21

      Case: F, 35Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183W (c.548C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219158 https://www.ncbi.nlm.nih.gov/clinvar/variation/219158/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S183W (c.548C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 cDNAposition:548 AminoAcidChange:SERtoTRP MutationType:missense_variant;transversion CivicName:S183W(c.548C>G) ClinVarID:219158 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline NoFamilyInfo ProteinPosition:183 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 05 Nov 2026
      27F/26FSB/L PCC+sPGLPNETVHL3c.499C>Tp.(Arg167Trp)Substitution (missense)Disease causing

      PatientID: 27

      KindredID: 27

      Case: F, 26Y0M, Asian Indian

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0030405 (pheochromocytoma; paraganglioma; pancreatic endocrine tumor)

      CaseHPOFreeText: patient had bilateral pheochromocytoma and sympathetic paraganglioma; and PNETs

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:NM_000551.3 Familial ClinVarID:Yes ClinVarID:2218 Ethnicity:SouthAsian Mutation:Germline PreviousTesting:NF1/RET/SDHB/SDHD MutationType:missense_variant;transition CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 31 Oct 2026
      23F/45ASUnilateral PCCVHL1c.224_226delTCTp.(Phe76del)DeletionDisease causing

      PatientID: 23

      KindredID: 23

      Case: F, 45Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.224_226delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.224_226delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.224_226delTCT)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:F76del(c.224_226delTCT) cDNAposition:224 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 30 Oct 2026
      16F/20FSB/L PCCFamily history+VHL3c.482G>Ap.(Arg161Gln)Substitution (missense)Disease causing

      PatientID: 16

      KindredID: 16

      Case: F, 20Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: positive family history

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    5. ClingenBaseline 30 Oct 2026
      17F/6FSUnilateral PCCFamily history+VHL3c.482G>Ap.(Arg161Gln)Substitution (missense)Disease causing

      PatientID: 17

      KindredID: 17

      Case: F, 6Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: positive family history

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes Familial Ethnicity:SouthAsian PreviousTesting:NF1/RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  3. ovidsp-dc2-ovid-com.uhn.idm.oclc.org ovidsp-dc2-ovid-com.uhn.idm.oclc.org
    Ovid: Complete Reference
    1
    1. ClingenBaseline 04 Nov 2026
      Clinical Case This is a 32 year-old Thai male with VHL diagnosed at age 20 when he was found to have a cerebellar hemangioblastoma. Genetic testing revealed a large deletion of exon 3 and poly A sites of VHL gene. Abdominal CT obtained as part of routine surveillance demonstrated multiple cystic lesions with rim enhancement in the pancreas. Based on CT characteristics, these lesions were presumed benign thus regular follow-up abdominal imagings were not performed. 10 years later, he developed abdominal discomfort. CT abdomen showed multiple solid and cystic enhancing lesions involving the entire pancreas with a hypervascular mass at segment 7 of liver. Given radiological findings, he was diagnosed with malignant pancreatic neuroendocrine tumor (PNET) with liver metastasis, thereupon underwent total pancreactomy with wedge resection of the liver mass. Surprisingly, the histopathology revealed a serous cystadenocarcinoma in the pancreas measuring 28 x 11.5 x 7 cm and a 4.5 x 4.5 x 3 cm metastatic lesion in the liver with hepatic capsular invasion. Since then annual abdominal CTs have been performed. Until present, there has been no evidence of tumor recurrence.

      PatientID: N/A (Case)

      KindredID: 1

      Case: M, 32Y0M, Thai (South Asian)

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006880; HP:0030405 (cerebellar hemangioblastoma; pancreatic endocrine tumor)

      CaseHPOFreeText: This male was diagnosed with VHL at 20Y when he was found to have a cerebellar hemangioblastoma. Abdominal CT obtained as part of routine surveillance demonstrated multiple cystic lesions with rim enhancement in the pancreas. 10 years later, he developed abdominal discomfort, and an abdomen CT showed multiple solid and cystic enhancing lesions involving the entire pancreas with a hypervascular mass at segment 7 of liver. Given radiological findings, he was diagnosed with malignant pancreatic neuroendocrine tumor (PNET) with liver metastasis, thereupon underwent total pancreactomy with wedge resection of the liver mass. Surprisingly, the histopathology revealed a serous cystadenocarcinoma in the pancreas measuring 28 x 11.5 x 7 cm and a 4.5 x 4.5 x 3 cm metastatic lesion in the liver with hepatic capsular invasion. 

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 3 deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Genetic testing revealed a large deletion of exon 3 and poly A sites of VHL gene.

      MutationType: exon_loss_variant

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:cerebellarhemangioblastoma:20 AgeOfPresentation:pancreaticendocrinetumor:30 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:N/A MutationType:exon_loss_variant UnregisteredVariant NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ovidsp-dc2-ovid-com.uhn.idm.oclc.org/ovid-b/ovidweb.cgi
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    More than It Meets the Eye! Vision Loss as a Presenting Symptom of von Hippel-Lindau Disease
    1
    1. ClingenBaseline 03 Nov 2026
      CASE REPORTAn apparently well 15-year-old male from northern part of India presented in August 2017, with a history of acute-onset bilateral painless vision loss of BE. Onset to nadir was within 3 days. There was no history of pain around the eyes or on eye movement. He also gave intermittent history of headache, which was not severe before the onset of vision loss for about 3 months. According to the ophthalmological findings outside, he had bilateral disc edema with a visual acuity of 6/36 bilaterally. He was managed as a case of optic neuritis with pulse methylprednisolone and subsequently on oral prednisolone taper. He reported no significant change in acuity with the same.He presented to our emergency department 2 months after the index event with intermittent episodes of headache, palpitation, chest pain, and persisting low visual acuity with an admission blood pressure of 240/120 mm Hg and heart rate of 160 beats per minute. There was no asymmetry in upper limb blood pressure, no renal bruit, or radio-femoral delay. Neurological examination revealed normal sensorium, visual acuity of 6/36 both eyes (BE). Fundoscopic examination revealed bilateral disc edema with hard exudates, suggestive of stage 4 Keith and Wagner hypertensive retinopathy, and fields showed centrocecal scotoma in BE [Figure 1]. He had other features of end-organ damage in the form of renal failure with subnephrotic rage proteinuria and left ventricular hypertrophy. Magnetic resonance imaging (MRI) of brain contrast showed subcortical white matter T2 hyperintensities and prior right lenticular hemorrhage with normal appearing optic nerves. Cerebrospinal fluid (CSF) analysis was normal with normal opening pressure [Figure 2].Open in a separate windowFigure 1Fundus photographs before and after surgery showing resolution of hard exudates and disc edemaOpen in a separate windowFigure 2(A) T2-weighted (T2W) fluid-attenuated inversion recovery sequence brain showing white matter changes and right lenticular hemorrhage. (B) Normal optic nerves and T2W axial sequence. (C) Contrast-enhanced CT abdomen arterial phase showing (red asterisk) suprarenal masses with heterogeneous enhancementHe required intravenous antihypertensive medications to control blood pressure, and he was shifted to neuro intensive care unit (ICU) for further management. Vasculitic and connective tissue disease workup was negative, and renal artery Doppler did not reveal any stenosis. He was evaluated for endocrine causes of hypertension and was detected to have elevated urinary metanephrine levels. Computed tomography (CT) of abdomen revealed bilateral pheochromocytoma [Figure 2]. He was subsequently managed under the department of endocrinology. His antihypertensive medications were optimized and taken up for adrenalectomy, following which his blood pressure stabilized. On follow-up after 1 year, his visual acuity has improved to 6/12 BE with residual disc pallor, and resolution of hard exudates and metanephrine levels [Figure 1]. In view of bilateral pheochromocytoma, he was evaluated for genetic causes and was detected to have 3p25-26 (c.482 G > A) VHL gene chromosomal mutation consistent with VHL disease. Further follow-up has not shown any new tumors/retinal hemangioblastomas. There was no positive family history elicited. His relatives have been advised to get screened for the mutation.

      PatientID: N/A (case)

      KindredID: 1

      Case: M, 18Y0M, Indian (South Asian)

      DiseaseAssertion: assumed VHL

      FamilyInfo: No positive family history, although his relatives have been advised to get mutation screening.

      CasePresentingHPOs: HP:0006748; HP:0100653 (Adrenal pheochromocytoma; Optic neuritis)

      CaseHPOFreeText: At 15Y (in 2017), male presented with history of acute bilateral vision loss, history of headaches, had bilateral disc edema - visual acuity of 6/36 both eyes (BE). A CT of his abdomen revealed bilateral pheochromocytoma, where he had an adrenalectomy.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:SouthAsian NoFamilyInfo DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:opticneuritis AgeOfPresentation:adrenalpheochromocytoma:15 AgeOfPresentation:opticneuritis:15 ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition ProteinPosition:161 AminoAcidChange:ARGtoGLN cDNAposition:482 CivicName:R161Q(c.482G>A) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7847098/
  5. www.proquest.com www.proquest.com
    Type 1 Diabetes Mellitus and Von Hipple Lindau Syndrome- Sweet Presentation of a Bitter Disease- A Case Report - Publicly Available Content Database - ProQuest
    1
    1. ClingenBaseline 02 Nov 2026
      CASE REPORT [Image Omitted. Please see PDF] A 19-year-old Saudi male presented to the emergency department with one-week history of polyuria and polydipsia. Physical examination findings were unremarkable. His father had died as a complication of metastatic renal carcinoma. Initial workup demonstrated random blood glucose of 16.3 mmol/L and HbA1C of 9.1%. Urinalysis was positive for ketone bodies, and blood analysis was positive for traces of ketone bodies. Patient was acidotic with pH of 7.3 and bicarbonate levels of 19 mmol/L. A presumptive diagnosis of diabetic ketoacidosis (DKA) was made; immune markers including glutamic acid decarboxylase (GAD) autoantibodies and islet cell autoantibodies were sent to exclude type I diabetes mellitus and maturity onset diabetes of the young. Intravenous insulin infusion and other appropriate management were initiated to control blood sugars and to correct the associated DKA. Later, the diagnosis of type I diabetes mellitus was confirmed with the presence of islet cell autoantibodies and that C-peptide level were within normal range. [Image Omitted. Please see PDF] Ultra-sound abdomen was performed as the patient complained of persistent abdominal pain even after correction of DKA. Ultrasound abdomen demonstrated an incidental finding of a well-defined hypo-echoic soft tissue mass measuring 3.7 x 4.7 cm in the left supra-renal region. Computerized tomography (CT) scan was performed for further evaluation. It demonstrated a 3.7 x 4.0 cm rounded lesion in the left adrenal gland with intense enhancement, suggestive of pheochromocytoma. A small hypo-dense lesion was also noted in the left renal upper pole, measuring 2.3 cm, with heterogeneous enhancement suggestive of a solid mass. The CT scan also demonstrated multiple rounded cystic lesions in the head, body, neck and tail of the pancreas representing pancreatic cysts. The above findings collectively were suggestive of phakomatosis disorders, in particular, vHL disease. Chromosomal studies were sent for detection of genetic mutations and confirmation of the diagnosis. MRI abdomen was highly suggestive of a left sided pheochromocytoma (Figure 1). It also demonstrated multiple cystic lesions in the pancreas (Figure 2) and bilateral cortical lesions in the kidneys, which demonstrated internal septal enhancement in the post gadolinium injection phase, highly indicative of renal cell carcinoma. Nuclear medicine scan demonstrated increased tracer uptake in the left suprarenal gland. Meanwhile, laboratory studies demonstrated increased serum normetanephrine level of 11.80 nmol/l, urine metanephrine level of 400nmol/24hrs, and urine normetanephrine level of 1210 nmol/24hrs. Serum cortisol, aldosterone and renin levels were within normal limits. A diagnosis of pheochromocytoma was confirmed and patient was started on anti-hypertensive medications and scheduled for surgical removal of the pheochromocytoma and the suspicious renal masses. Patient underwent robot assisted laparoscopic left adrenalectomy and left renal mass excision. Two renal nodules were removed. The post-operative course was unremarkable and patient was discharged home in stable condition. Histopathologic evaluation confirmed the diagnosis of pheochromocytoma; the renal masses were determined as renal clear cell carcinoma Furham grade I

      PatientID: 1 (case)

      KindredID: 1

      Case: M,19Y0M, South Asian (Saudi)

      DiseaseAssertion: assumed VHL

      FamilyInfo: History of family showed that his father had died as a complication of metastatic renal carcinoma. Screening was done for the family. 3 of his 8 siblings tested positive for the 384delT mutation, although no phenotypes for them was given.

      CasePresentingHPOs: HP:0100651; HP:0006748; HP:0001737; HP:0005584 (Type I diabetes mellitus; adrenal pheochromocytoma; pancreatic cysts; renal cell carcinoma)

      CaseHPOFreeText: The young man presented with primary symptoms of polyuria and polydipsia, and was later found to be in diabetic ketoacidosis (diagnosed with diabetes mellitus type I). He had persistent abdominal pain (later showing left sided pheochromocytoma (3.7 x 4.0 cm rounded lesion in the left adrenal gland) and right sided renal cell carcinoma (measuring 2.3 cm, with heterogeneous enhancement suggestive of a solid mass)). The CT scan also demonstrated multiple rounded cystic lesions in the head, body, neck and tail of the pancreas representing pancreatic cysts. Bilateral cortical lesions in the kidneys also demonstrated internal septal enhancement in the post gadolinium injection phase, highly indicative of renal cell carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129Trpfs*30 (c.384delT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:384 ProteinPosition:129 AminoAcidChange:LEUtoTHR MutationType:minus_1_frameshift_variant CAID:CA70049452 ClinVarID:N/A CivicName:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    proquest.com/publiccontent/docview/1845852120
  6. Oct 2026
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abstracts - USICON 2018
    1
    1. ClingenBaseline 29 Oct 2026
      Result: 30 year old female presented with headache, palpitation, epistaxsis for 2 months. On examination: Bp 210/110 mmHg, physical examination unremarkable. On Investigation: Ultrasound revealed a Rt adrenal mass and a pancreatic mass, which was confirmed on a CECT abdomen pelvis. A CECT brain revealed a cerebellar haemangioblastoma. With these findings diagnosis of probable VHL made. Patient then underwent molecular genetic testing and was found to have heterozygous mutation in C293A. C in the VHL gene. Metabolic workup and Bp control was done by endocrinology After adequate BP control patient posted for adrenalectomy. Patient underwent an uneventful adrenalectomy. On HPE the diagnosis of adrenal pheochromocytoma was confirmed. Department of neurosurgery performed surgery for cebellar haemangioblastoma and in the GI surgery department were she underwent a distal pancreaticospleenectoy. Patient was then desirous of pregnancy. Department of OBG counselled her and she had a planned conception. She was managed for severe pre eclempsia, pregnancy in a fibroid uterus by OBG and endocrinology, and she delivered a healthy chid. Patient is presently a controlled hypertensive and is on regular follow up.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 30Y0M, South-Asian (Indian)

      DiseaseAssertion: VHL

      FamilyInfo: Not stated - although she was counselled through a planned conception, and she delivered a healthy child

      CasePresentingHPOs: HP:0006748; HP:0001732; HP:0006880 (adrenal pheochromocytoma; pancreatic mass; cerebellar hemangioblastoma)

      CaseHPOFreeText: Here is a case report describing a young woman presenting with hypertension, diagnosed to have VHL with right adrenal pheochromocytoma, and a pancreatic mass. Subsequent brain scan revealed a cerebellar hemangioblastoma. The patient underwent an adrenalectomy where her diagnosis was confirmed. Additionally, surgery for cebellar haemangioblastoma and distal pancreaticospleenectoy were done.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:98 cDNAposition:293 CivicName:N/A MutationType:missense_variant;transversion AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5799959/
  8. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    3
    1. ClingenBaseline 29 Oct 2026
      31M/21ASUnilateral PCCVHL3c.533T>Ap.(Leu178Gln)Substitution (missense)Disease causing

      PatientID: 31

      KindredID: 31

      Case: M, 21Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: patient had unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q (c.533T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178Q (c.533T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN MutationType:missense_variant;transversion ClinVarID:625260 ClinVarID:Yes NoFamilyInfo Mutation:Germline Ethnicity:SouthAsian PreviousTesting:NF1/RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 28 Oct 2026
      15M/12FSUnilateral PCC+sPGLRenal and pancreatic cystsFamily history+VHL1c.293A>C (Novel)p.(Tyr98Ser)Substitution (missense)Disease causing

      PatientID: 15

      KindredID: 15

      Case: M, 12Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0000107; HP:0001737 (pheochromocytoma; paraganglioma; renal cyst; pancreatic cysts)

      CaseHPOFreeText: unilateral pheochromocytoma with sympathetic paraganglioma. Renal and pancreatic cysts

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts CivicName:Y98S(c.293A>C) cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026
      14F/11ASB/L PCC+sPGLVHL3c.500G>Ap.(Arg167Gln)Substitution (missense)Disease causingProbably damaging score 1.000DamagingNRNR

      PatientID: 14

      KindredID: 14

      Case: F, 11Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: None - Apparently sporadic

      CasePresentingHPOs: HP:0002666; HP:0002668 (pheochromocytoma, paraganglioma)

      CaseHPOFreeText: Bilateral pheochromocytoma and sympathetic PGL

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:paraganglioma DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 MutationType:missense_variant;transversion PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD Mutation:Germline ClinVarID:Yes Ethnicity:SouthAsian NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  9. www.proquest.com www.proquest.com
    Type 1 Diabetes Mellitus and Von Hipple Lindau Syndrome- Sweet Presentation of a Bitter Disease- A Case Report - Publicly Available Content Database - ProQuest
    1
    1. ClingenBaseline 23 Oct 2026
      His father had died as a complication of metastatic renal carcinoma.

      PatientID: N/A (father)

      KindredID: 1

      Case: M, Age Unknown (deceased), South Asian (Saudi)

      DiseaseAssertion: assumed VHL

      FamilyInfo: History of family showed that his 4/8 children tested positive for the 384delT mutation. suggesting that he likely passed it onto them. One son (case) presented with adrenal pheochromocytoma, pancreatic cysts, and renal cell carcinoma.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: He died as a complication of metastatic renal carcinoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L129Trpfs*30 (c.384delT) [assumed]

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA70049452 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.384delT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:384 ProteinPosition:129 AminoAcidChange:LEUtoTHR CivicName:N/A MutationType:minus_1_frameshift_variant CAID:CA70049452 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    proquest.com/publiccontent/docview/1845852120