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Hereditary pheochromocytoma-paraganglioma
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary pheochromocytoma-paraganglioma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

MAX
(UniProt - OMIM)
 EP300
(UniProt - OMIM)
SDHA
(UniProt - OMIM)
SDHAF2
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)
TMEM127
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAX
(0.76)
EP300


Citations in the biomedical literature:


Hereditary pheochromocytoma-paraganglioma
MAX SDHA SDHAF2 SDHB SDHC SDHD
TMEM127
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Hereditary pheochromocytoma-paraganglioma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Synonym(s):
- Familial pheochromocytoma-paraganglioma
- SDHx-related paraganglioma-pheochromocytoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.