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Familial clubfoot due to PITX1 point mutation
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
X-linked non-syndromic intellectual deficit
MODY syndrome
Intellectual deficit - sparse hair - brachydactyly
- Hereditary clubfoot due to PITX1 point mutation

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PITX1 P78337602149
No signs/symptoms info available.