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Holt-Oram syndrome

1 OMIM reference -
1 associated gene
25 connected diseases
24 signs/symptoms

Disease	Type of connection
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
Tetralogy of Fallot
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Thyroid hypoplasia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Kabuki syndrome
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Uveal coloboma - cleft lip and palate - intellectual deficit
Coffin-Siris syndrome
Familial rhabdoid tumor

Synonym(s): - Atriodigital dysplasia type 1 - HOS - Heart-hand syndrome type 1

Classification (Orphanet): - Rare bone disease - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		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		External references: 1 OMIM reference - 1 MeSH reference: C535326

Gene symbol	UniProt reference	OMIM reference
TBX5	Q99593	601620

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