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Autosomal recessive spastic paraplegia type 30
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive spastic paraplegia type 30
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

KIF1A
(UniProt - OMIM)
 RFX6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIF1A
(0.63)
RFX6


Citations in the biomedical literature:


Autosomal recessive spastic paraplegia type 30
KIF1A
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RFX6



Autosomal recessive spastic paraplegia type 30
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

Synonym(s):
- SPG30
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.