Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
4 OMIM references -
4 associated genes
39 signs/symptoms
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Micro syndrome

VAPB RAB18
RAB3GAP1
RAB3GAP2
TBC1D20


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Adult-onset proximal spinal muscular atrophy, autosomal dominant
VAPB
Micro syndrome
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20



Adult-onset proximal spinal muscular atrophy, autosomal dominant
Micro syndrome

Synonym(s):
- Finkel disease

Synonym(s):
- WARBM
- Warburg micro syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

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

Micro syndrome

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nasal root
- Cataract / lens opacification
- Corpus callosum / septum pellucidum total / partial agenesis
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Microcornea
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Restricted joint mobility / joint stiffness / ankylosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal VEP / Visual evoked potential
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Kyphosis
- Long / large ear
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Retinitis pigmentosa / retinal pigmentary changes
- Scoliosis

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Ectopic / horseshoe / fused kidneys
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Peripheral neuropathy
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus


Adult-onset proximal spinal muscular atrophy, autosomal dominant

(no data available)