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Spinocerebellar ataxia type 17
1 OMIM reference -
1 associated gene
68 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Extraskeletal myxoid chondrosarcoma
X-linked dystonia-parkinsonism
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Anaplastic ependymoma
Hypodontia - dysplasia of nails
Oligodontia
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Burkitt lymphoma
Estrogen resistance syndrome
Familial retinoblastoma
Monosomy 13q14
Precursor T-cell acute lymphoblastic leukemia
Unilateral retinoblastoma
Glucocorticoid resistance
Pancytopenia due to IKZF1 mutations
Primary biliary cirrhosis
Amyotrophic lateral sclerosis
Alveolar rhabdomyosarcoma
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Complete androgen insensitivity syndrome
Craniofacial-deafness-hand syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Autosomal recessive primary microcephaly
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Helicoid peripapillary chorioretinal degeneration
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
COFS syndrome
Cockayne syndrome type 2
Intellectual deficit - sparse hair - brachydactyly
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spinocerebellar ataxia type 7
Huntington disease
Juvenile Huntington disease
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Hyperinsulinism due to HNF4A deficiency
Isolated brachycephaly
Isolated plagiocephaly
MODY syndrome
Miller-Dieker syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Synonym(s):
- HDL4
- Huntington disease-like 4
- SCA17
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: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBP P20226600075
No signs/symptoms info available.