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Autosomal recessive spastic paraplegia type 43
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive spastic paraplegia type 43
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

C19ORF12
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
C19ORF12
(0.68)
IKBKG


Citations in the biomedical literature:


Autosomal recessive spastic paraplegia type 43
C19ORF12
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG



Autosomal recessive spastic paraplegia type 43
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

Synonym(s):
- SPG43
Synonym(s):
- OL-EDA-ID
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.