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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant spastic paraplegia type 13
Male infertility with normal virilization due to meiosis defect

HSPD1 CFTR
SOHLH1
SYCP3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.72)
CFTR



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Autosomal dominant spastic paraplegia type 13
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- SPG13

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: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.