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Spinocerebellar ataxia type 29
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Spinocerebellar ataxia type 15 / 16
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant nonsyndromic intellectual deficit
Dysequilibrium syndrome
Autosomal recessive spastic paraplegia type 18
Follicular lymphoma
Huntington disease
Intravascular large B-cell lymphoma
Juvenile Huntington disease
Juvenile primary lateral sclerosis
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial thoracic aortic aneurysm and aortic dissection
22q11.2 deletion syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Cowden syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Proteus syndrome
Semantic dementia
Spastic paraplegia - Paget disease of bone
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Congenital nonprogressive spinocerebellar ataxia
- SCA29

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ITPR1 Q14643147265
No signs/symptoms info available.