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Holt-Oram syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Thyroid hypoplasia

2 OMIM references -
6 associated genes
14 signs/symptoms

Holt-Oram syndrome

Thyroid hypoplasia

TBX5	(UniProt - OMIM)		FOXE1	(UniProt - OMIM)
			NKX2-1	(UniProt - OMIM)
			NKX2-5	(UniProt - OMIM)
			PAX8	(UniProt - OMIM)
			SLC26A4	(UniProt - OMIM)
			TSHR	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBX5	(0.89)	NKX2-5

Citations in the biomedical literature:

Holt-Oram syndrome		Thyroid hypoplasia
	Synonym(s): - Atriodigital dysplasia type 1 - HOS - Heart-hand syndrome type 1		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C535326		External references: 2 OMIM references - No MeSH references

Holt-Oram syndrome		Thyroid hypoplasia
	Very frequent - Autosomal dominant inheritance - Wrist / carpal anomalies Frequent - Atrial septal defect / interauricular communication - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Fingerlike / triphalangeal thumb - Metacarpal anomalies / Archibald's sign - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Thumb hypoplasia / aplasia / absence - Ventricular septal defect / interventricular communication Occasional - Anomalies of the ribs - Anomalous pulmonary venous return - Atrioventricular canal - Broad / bifid thumb - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Narrow / sloping shoulders - Patent ductus arteriosus - Pectus excavatum - Phocomelia - Radioulnar synostosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Syndactyly of fingers / interdigital palm		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism