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2 OMIM references -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Congenital hereditary facial paralysis with variable hearing loss
Alpha-1-antichymotrypsin deficiency

HOXB1 SERPINA3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HOXB1
(0.52)
SERPINA3



Citations in the biomedical literature:


Congenital hereditary facial paralysis with variable hearing loss
HOXB1
Alpha-1-antichymotrypsin deficiency
SERPINA3



Congenital hereditary facial paralysis with variable hearing loss
Alpha-1-antichymotrypsin deficiency

Synonym(s):
- Congenital hereditary facial palsy with variable deafness
- Congenital hereditary facial palsy with variable hearing loss
- Congenital hereditary facial paralysis with variable deafness

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare respiratory disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.