Hereditary pheochromocytoma-paraganglioma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial pheochromocytoma-paraganglioma SDHx-related paraganglioma-pheochromocytoma |
| Number of Symptoms | 20 |
| OrphanetNr: | 29072 |
| OMIM Id: |
115310
168000 171300 601650 605373 614165 |
| ICD-10: |
C74.1 C75.5 D35.0 D35.6 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Catecholamine-producing tumor
-Rare circulatory system disease -Rare endocrine disease -Rare genetic disease -Rare oncologic disease -Rare renal disease Genetic endocrine tumor -Rare genetic disease Genetic hypertension -Rare circulatory system disease -Rare genetic disease -Rare renal disease Rare genetic adrenal disease -Rare genetic disease |
Symptom Information:
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(HPO:0011281) | Abnormality of urine catecholamine concentration | 1 / 7739 | ||||
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(HPO:0005584) | Renal cell carcinoma | 13 / 7739 | ||||
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(HPO:0008629) | Pulsatile tinnitus | 5 / 7739 | ||||
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(HPO:0006737) | Extraadrenal pheochromocytoma | 4 / 7739 | ||||
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(HPO:0002331) | Recurrent paroxysmal headache | 4 / 7739 | ||||
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(HPO:0006824) | Cranial nerve paralysis | 81 / 7739 | ||||
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(HPO:0000740) | Episodic paroxysmal anxiety | 8 / 7739 | ||||
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(HPO:0006748) | Adrenal pheochromocytoma | 4 / 7739 | ||||
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(HPO:0003006) | Neuroblastoma | rare [HPO:skoehler] | 16 / 7739 | |||
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(HPO:0003001) | Glomus jugular tumor | 5 / 7739 | ||||
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(HPO:0100723) | Gastrointestinal stroma tumor | rare [HPO:skoehler] | 7 / 7739 | |||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0002640) | Hypertension associated with pheochromocytoma | 3 / 7739 | ||||
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(HPO:0001962) | Palpitations | 62 / 7739 | ||||
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(HPO:0001649) | Tachycardia | 53 / 7739 | ||||
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(HPO:0001962) | Palpitations | 62 / 7739 | ||||
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(HPO:0030074) | Chemodectoma | 5 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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