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Autosomal recessive spastic paraplegia type 18
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal recessive spastic paraplegia type 18
Male infertility with normal virilization due to meiosis defect

ERLIN2
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SOHLH1
(UniProt - OMIM)
SYCP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ERLIN2
(0.63)
CFTR


Citations in the biomedical literature:


Autosomal recessive spastic paraplegia type 18
ERLIN2
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Autosomal recessive spastic paraplegia type 18
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- SPG18
Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
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: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.