ODCs

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5 associated genes
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
20 signs/symptoms

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

Lethal osteosclerotic bone dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PROP1	(0.63)	FAM20C

Citations in the biomedical literature:

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Lethal osteosclerotic bone dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Raine 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Cleft lip and palate - Large fontanelle / delayed fontanelle closure

Hypothyroidism due to deficient transcription factors involved in pituitary development or function		Lethal osteosclerotic bone 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 - Sleep and vigilance disorders - Umbilical hernia Frequent - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism		Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Exaggerated cupid bows - Flared chest / bell-shaped thorax / shield chest - Flattened nose - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Osteosclerosis / osteopetrosis / bone condensation - Short neck - Stillbirth / neonatal death Frequent - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short / small nose - Thickened / hypertrophic / fibromatous gingivae