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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
CARASIL
Hypochondrogenesis

HTRA1 COL2A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTRA1
(0.63)
COL2A1



Citations in the biomedical literature:


CARASIL
HTRA1
Hypochondrogenesis
COL2A1



CARASIL
Hypochondrogenesis

Synonym(s):
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maeda syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.