ODCs

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Holt-Oram syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Uveal coloboma - cleft lip and palate - intellectual deficit

1 OMIM reference -
1 associated gene
18 signs/symptoms

Holt-Oram syndrome

Uveal coloboma - cleft lip and palate - intellectual deficit

TBX5

(UniProt - OMIM)

YAP1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBX5	(0.67)	YAP1

Citations in the biomedical literature:

Holt-Oram syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	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 developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Holt-Oram syndrome		Uveal coloboma - cleft lip and palate - intellectual deficit
	Very frequent - 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 - Retinoschisis / retinal / chorioretinal coloboma - Sensorineural deafness / hearing loss Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cleft lip and palate - Coloboma of iris - Hematuria / microhematuria - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Embryotoxon - Glaucoma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Ptosis - Retinal detachment - Strabismus / squint - Visual loss / blindness / amblyopia