ODCs

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1 OMIM reference -
2 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
No signs/symptoms info

Cataract - intellectual deficit - hypogonadism

Adult-onset proximal spinal muscular atrophy, autosomal dominant

RAB3GAP1	(UniProt - OMIM)		VAPB	(UniProt - OMIM)
RAB3GAP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAB3GAP1 RAB3GAP2	(0.63) (0.63)	VAPB VAPB

Citations in the biomedical literature:

Cataract - intellectual deficit - hypogonadism		Adult-onset proximal spinal muscular atrophy, autosomal dominant
	Synonym(s): - Martsolf syndrome		Synonym(s): - Finkel disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Cataract - intellectual deficit - hypogonadism
	Very frequent - Abnormal dermatoglyphics - Autosomal recessive inheritance - Cataract / lens opacification - Everted lower lip - Failure to thrive / difficulties for feeding in infancy / growth delay - Fissured / scrotal tongue - Flat cheek bones / malar hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Low hair line (back) - Microcephaly - Mid-facial hypoplasia / short / small midface - Premature ageing - Short philtrum - Short stature / dwarfism / nanism Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal toenails - Anomalies of hands - Brachycephaly / flat occiput - Depressed nasal bridge - High vaulted / narrow palate - Hypotelorism - Lordosis - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Terminal / third phalangeal bone of fingers broadened / deviated - Ulnar deviation of fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Antihelix anomaly - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Scoliosis
Adult-onset proximal spinal muscular atrophy, autosomal dominant
(no data available)