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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Familial clubfoot due to PITX1 point mutation
Combined pituitary hormone deficiencies, genetic forms

PITX1 GLI2
HESX1
OTX2
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PITX1
(0.78)
POU1F1



Citations in the biomedical literature:


Familial clubfoot due to PITX1 point mutation
PITX1
Combined pituitary hormone deficiencies, genetic forms
GLI2 HESX1 OTX2 POU1F1 PROP1



Familial clubfoot due to PITX1 point mutation
Combined pituitary hormone deficiencies, genetic forms

Synonym(s):
- Hereditary clubfoot due to PITX1 point mutation

Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.