2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India
    1
    1. ClingenBaseline 09 Nov 2026

      PatientID: None

      KindredID: 9

      Case: F, 22Y0M, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: No familial/syndromic (FS) association

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

      CaseHPOFreeText: Sympathetic PGL with an onset of 11Y0M and a benign bilateral pheochromocytoma at 22Y0M

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB,SDHC, SDHD, and exons 10, 11, 13, 14, 15 and 16 of RET proto-oncogene

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 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

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:paraganglioma DiseaseEntity:pheochromocytoma AgeOfPresentation:paraganglioma:11 AgeOfPresentation:pheochromocytoma:22 Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 ClinVarID:Yes PreviousTesting:RET/SDHB/SDHC/SDHD NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/28432847/
  3. Nov 2026
  4. www.scholars.northwestern.edu www.scholars.northwestern.edu
    Pheochromocytoma and paraganglioma in the pediatric population
    1
    1. ClingenBaseline 02 Nov 2026
      Pheochromocytomas and paragangliomas are rare tumors in the pediatric population that arise from neural crest cells. Prompt recognition and treatment are necessary to limit morbidity. Compared to adults, pheochromocytoma and paraganglioma in children are more likely to be associated with an underlying genetic syndrome, and genetic testing should be pursued. These tumors can produce catecholamines and present with symptoms such as sweating, nausea, emesis, hypertension, or diarrhea, or they can be nonfunctional and present with symptoms related to mass effect. Evaluation is initiated with measurement of urine and plasma metanephrines and diagnosis confirmed with magnetic resonance imaging. Definitive treatment occurs via surgical excision. A multidisciplinary team specifically trained in the management of pediatric PHEO and PGL is necessary for optimal patient care.

      PatientID: 1 (case)

      KindredID: 1

      Case: M, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The patient’s father and paternal aunt both had a history of pheochromocytoma. No genetic testing for them was described.

      CasePresentingHPOs: HP:0006748; HP:0002668 (adrenal pheochromocytoma, paraganglioma)

      CaseHPOFreeText: Presented at 11Y with a 2-week history of nausea. He was noted to have tachycardia and a heart murmur, so an echocardiogram was obtained revealing moderate concentric hypertrophy and mildly decreased left ventricular systolic and diastolic dysfunction. An MRI of the abdomen revealed a 4.6 × 4.1 × 5.7 cm mass in the right adrenal gland and a 3.3 × 2.9 × 3.2 cm rounded lesion in the left adrenal gland. MIBG scan showed MIBG localization in bilateral retroperitoneal masses, compatible with bilateral pheochromocytoma. Patient underwent bilateral adrenalectomy. Two years later (13Y), imaging revealed a right paraspinal paraganglioma which was subsequently resected.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: An ophthalmology examination was notable only for hypertensive retinopathy.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84M (c.250G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428813, https://www.ncbi.nlm.nih.gov/clinvar/variation/428813/

      CAID: N/A

      gnomAD: 0.000004376, https://gnomad.broadinstitute.org/variant/3-10183781-G-A

      VariantEvidence: At the time of publication, the mutation had not been previously characterized however was clinically consistent with a diagnosis of VHL.

      MutationType: missense_variant;transition

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:paraganglioma AgeOfPresentation:adrenalpheochromocytoma:11 AgeOfPresentation:paraganglioma:13 cDNAposition:250 ProteinPosition:84 MutationType:missense_variant;transition AminoAcidChange:VALtoMET ClinVarID:428813 ClinVarID:Yes Familial CivicName:N/A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    scholars.northwestern.edu/en/publications/pheochromocytoma-and-paraganglioma-in-the-pediatric-population