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Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial clubfoot due to 5q31 microdeletion
1 associated gene
No signs/symptoms info
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Familial clubfoot due to 5q31 microdeletion

RFX6
(UniProt - OMIM)
 PITX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RFX6
(0.63)
PITX1


Citations in the biomedical literature:


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RFX6
Familial clubfoot due to 5q31 microdeletion
PITX1



Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Familial clubfoot due to 5q31 microdeletion

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary clubfoot due to 5q31 microdeletion
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.