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Autosomal recessive spastic paraplegia type 30
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Hereditary sensory and autonomic neuropathy type 2
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Estrogen resistance syndrome
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Idiopathic central precocious puberty
Isolated ectopia lentis
Papillary or follicular thyroid carcinoma
X-linked non-syndromic intellectual deficit
Synonym(s):
- SPG30
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KIF1A Q12756601255
No signs/symptoms info available.