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Hereditary pheochromocytoma-paraganglioma
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Syndromic X-linked intellectual deficit due to JARID1C mutation
1 OMIM reference -
1 associated gene
23 signs/symptoms
Hereditary pheochromocytoma-paraganglioma
Syndromic X-linked intellectual deficit due to JARID1C mutation

MAX
(UniProt - OMIM)
 KDM5C
(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
(0.72)
KDM5C


Citations in the biomedical literature:


Hereditary pheochromocytoma-paraganglioma
MAX SDHA SDHAF2 SDHB SDHC SDHD
TMEM127
Syndromic X-linked intellectual deficit due to JARID1C mutation
KDM5C



Hereditary pheochromocytoma-paraganglioma
Syndromic X-linked intellectual deficit due to JARID1C mutation

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)
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:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Syndromic X-linked intellectual deficit due to JARID1C mutation

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked recessive inheritance

Frequent
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism

Occasional
- Autism / autistic disoders
- Cafe-au-lait spot
- Camptodactyly of fingers
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Deepset eyes / enophthalmos
- High nasal bridge
- High vaulted / narrow palate
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microcephaly
- Prominent / bat ears
- Short hand / brachydactyly
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint
- Talipes-varus / metatarsal varus
- Tapered fingers


Hereditary pheochromocytoma-paraganglioma

(no data available)