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Spinocerebellar ataxia type 7
1 OMIM reference -
1 associated gene
49 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Cone rod dystrophy
Leber congenital amaurosis
Retinitis pigmentosa
Carpenter syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
Familial infantile bilateral striatal necrosis
Adult-onset distal myopathy due to VCP mutation
Cobblestone lissencephaly without muscular or ocular involvement
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Postsynaptic congenital myasthenic syndromes
Spastic paraplegia - Paget disease of bone
Acromicric dysplasia
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal dominant macrothrombocytopenia
Autosomal recessive cutis laxa type 1
CLN11 disease
Familial drusen
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Fibronectin glomerulopathy
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Isolated ectopia lentis
LAMB-2-related infantile-onset nephrotic syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Marfan syndrome type 1
Neonatal Marfan syndrome
Papillary or follicular thyroid carcinoma
Pierson syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Shprintzen-Goldberg syndrome
Spinocerebellar ataxia type 17
Stiff skin syndrome
Synaptic congenital myasthenic syndromes
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Weill-Marchesani syndrome
Synonym(s):
- Autosomal dominant spinocerebellar ataxia type 7
- Cerebellar syndrome - pigmentary maculopathy
- SCA7
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATXN7 O15265607640
No signs/symptoms info available.