ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

4 OMIM references -
2 associated genes
1 sign/symptom

Autosomal recessive spastic paraplegia type 30

Familial hypospadias

KIF1A	(UniProt - OMIM)		AR	(UniProt - OMIM)
			MAMLD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIF1A	(0.73)	AR

Citations in the biomedical literature:

Autosomal recessive spastic paraplegia type 30		Familial hypospadias
	Synonym(s): - SPG30		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Familial hypospadias
	Very frequent - Hypospadias / epispadias / bent penis
Autosomal recessive spastic paraplegia type 30
(no data available)