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Infantile onset spinocerebellar ataxia
1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Infantile onset spinocerebellar ataxia
Heritable pulmonary arterial hypertension

C10ORF2
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
C10ORF2
(0.63)
SMAD9


Citations in the biomedical literature:


Infantile onset spinocerebellar ataxia
C10ORF2
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Infantile onset spinocerebellar ataxia
Heritable pulmonary arterial hypertension

Synonym(s):
- IOSCA
- Ohaha syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535523
External references:
No OMIM references
No MeSH references
Infantile onset spinocerebellar ataxia

Very frequent
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Functional anomalies of the nervous system
- Hearing loss / hypoacusia / deafness
- Movement disorder
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla



Heritable pulmonary arterial hypertension

(no data available)