ODCs

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5 associated genes
17 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Brachydactyly - elbow wrist dysplasia


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

Citations in the biomedical literature:

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Brachydactyly - elbow wrist dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Brachydactyly - joint dysplasia - Liebenberg syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		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: (no data available)		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Brachydactyly - elbow wrist dysplasia
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism		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