ODCs

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4 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Combined pituitary hormone deficiencies, genetic forms

Brachydactyly - elbow wrist dysplasia


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

Citations in the biomedical literature:

Combined pituitary hormone deficiencies, genetic forms		Brachydactyly - elbow wrist dysplasia
	Synonym(s): - Familial congenital hypopituitarism - Multiple pituitary hormone deficiencies, genetic forms		Synonym(s): - Brachydactyly - joint dysplasia - Liebenberg syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Brachydactyly - elbow wrist dysplasia
	Very frequent - Autosomal dominant inheritance - Carpal bones fusion / synostosis - Clinodactyly of fifth finger - Elbow dislocation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Macrocephaly / macrocrania / megalocephaly / megacephaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers broadened / deviated - Thin / hypoplastic / hyperconvex fingernails - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
Combined pituitary hormone deficiencies, genetic forms
(no data available)