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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
No signs/symptoms info
Proximal spinal muscular atrophy type 3
Familial porencephaly

NAIP COL4A1
SMN1 COL4A2
SMN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMN1
SMN2
(0.63)
(0.63)
COL4A2
COL4A2



Citations in the biomedical literature:


Proximal spinal muscular atrophy type 3
NAIP SMN1 SMN2
Familial porencephaly
COL4A1 COL4A2



Proximal spinal muscular atrophy type 3
Familial porencephaly

Synonym(s):
- Juvenile spinal muscular atrophy
- Kugelberg-Welander disease
- SMA type 3
- SMA-III
- SMA3

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536850

No signs/symptoms info available.