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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
24 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Holt-Oram syndrome

CACNG2 TBX5
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.67)
TBX5



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Holt-Oram syndrome
TBX5



Autosomal dominant nonsyndromic intellectual deficit
Holt-Oram syndrome

Synonym(s):
(no synonyms)

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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

Holt-Oram syndrome

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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)