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Holt-Oram syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Holt-Oram syndrome

8p23.1 microdeletion syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBX5	(0.74)	GATA4

Citations in the biomedical literature:

Holt-Oram syndrome		8p23.1 microdeletion syndrome
	Synonym(s): - Atriodigital dysplasia type 1 - HOS - Heart-hand syndrome type 1		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	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 urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Atrioventricular canal - Autosomal dominant inheritance - Broad / bifid thumb - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Patent ductus arteriosus

Holt-Oram syndrome		8p23.1 microdeletion syndrome
	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 - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Narrow / sloping shoulders - Pectus excavatum - Phocomelia - Radioulnar synostosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Syndactyly of fingers / interdigital palm		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation Frequent - Broad nose / nasal bridge - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Microcephaly - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Cardiomyopathy / hypertrophic / dilated - Deepset eyes / enophthalmos - Diaphragmatic hernia / defect / agenesis - Generalized obesity - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels