MCID: HLT001
MIFTS: 60

Holt-Oram Syndrome

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Holt-Oram Syndrome

MalaCards integrated aliases for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 54 12 23 50 25 56 71 29 13 52 42 14 69
Hos 50 25 56 71
Atriodigital Dysplasia 12 50 25
Heart-Hand Syndrome, Type 1 50 25
Ventriculo-Radial Syndrome 50 25
Atrio-Digital Syndrome 12 25
Cardiac-Limb Syndrome 50 25
Heart-Hand Syndrome 12 50
Atriodigital Dysplasia Type 1 56
Heart-Hand Syndrome Type 1 56
Atrio Digital Syndrome 50
Hearthand Syndrome 23
Holt Oram Syndrome 52
Hos 1 50

Characteristics:

Orphanet epidemiological data:

56
holt-oram syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Hungary); Age of onset: Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
holt-oram syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The upper-limb malformations in hos are fully penetrant...

Classifications:



Summaries for Holt-Oram Syndrome

NIH Rare Diseases : 50 holt-oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. affected people have at least one bone abnormality in the wrist, many of which can be detected only by x-ray. additional skeletal abnormalities may also be present. about 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). holt-oram syndrome is caused by mutations in the tbx5 gene and is inherited in an autosomal dominant manner. most cases result from new mutations in the gene and occur in people with no family history of the condition. last updated: 9/16/2014

MalaCards based summary : Holt-Oram Syndrome, also known as hos, is related to polydactyly, preaxial type ii and tbx5-related holt-oram syndrome, and has symptoms including scoliosis, patent ductus arteriosus and ventricular septal defect. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box 5), and among its related pathways/superpathways are Cardiac conduction and Human Embryonic Stem Cell Pluripotency. The drugs Doxorubicin and Doxil have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and lung, and related phenotypes are cardiovascular system and craniofacial

Disease Ontology : 12 An autosomal dominant disease characterized by congenital anomalies located in heart and located in upper limb.

Genetics Home Reference : 25 Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

OMIM : 54
Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991). (142900)

UniProtKB/Swiss-Prot : 71 Holt-Oram syndrome: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

GeneReviews: NBK1111

Related Diseases for Holt-Oram Syndrome

Diseases in the Holt-Oram Syndrome family:

Tbx5-Related Holt-Oram Syndrome Sall4-Related Holt-Oram Syndrome

Diseases related to Holt-Oram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial type ii 32.6 TBX3 TBX5
2 tbx5-related holt-oram syndrome 12.2
3 sall4-related holt-oram syndrome 12.2
4 duane-radial ray syndrome 11.2
5 tabatznik syndrome 10.9
6 heart-hand syndrome, slovenian type 10.9
7 heart-hand syndrome, spanish type 10.9
8 muscular fibrosis multifocal obstructed vessels 10.6 TBX3 TBX5
9 actc1-related dilated cardiomyopathy 10.5 SALL4 TBX5
10 focal epithelial hyperplasia 10.4 NKX2-5 SALL4
11 macroglossia 10.4 MYH7 NKX2-5
12 myxozoa 10.4 MYH6 MYH7
13 pulmonary coin lesion 10.3 NKX2-5 SALL4
14 optic nerve disease 10.3 MYH6 NKX2-5 TBX5
15 atrial fibrillation 10.3
16 polydactyly 10.3
17 artery disease 10.3 MYH7 NKX2-5
18 keratosis follicularis, dwarfism, and cerebral atrophy 10.3 TBX3 TBX5
19 dentine erosion 10.3 MYH6 NKX2-5 TBX5
20 pseudohypoparathyroidism ia 10.3 SALL4 TBX3 TBX5
21 malignant pineal area germ cell neoplasm 10.2 MYH7 NKX2-5 TBX5
22 hypoplastic left heart syndrome 10.2
23 heart disease 10.2
24 tetralogy of fallot 10.2
25 ventricular septal defect 10.2
26 patent ductus arteriosus 2 10.1 EP300 NKX2-5 TBX5
27 tricuspid valve disease 10.1 MYH6 SHOX2 TBX3
28 cardiomyopathy, hypertrophic 6 10.1 MYH7 NKX2-5
29 non-syndromic intellectual disability 10.1 SALL4 SHOX2
30 pulmonary hypertension 10.0
31 lymphosarcoma 10.0
32 aortic coarctation 10.0
33 osteonecrosis 10.0
34 aortopulmonary window 10.0
35 microcephaly 10.0
36 pheochromocytoma 10.0
37 acro-renal-ocular syndrome 10.0
38 prostate cancer 10.0
39 myopia 10.0
40 syncope 10.0
41 patent ductus arteriosus 10.0
42 prostatitis 10.0
43 monilethrix 10.0
44 cerebritis 10.0
45 duodenal atresia 10.0
46 malignant hyperthermia 10.0
47 lung agenesis 10.0
48 duodenitis 10.0
49 ichthyosis 9.8 NKX2-5 TBX1 TBX5
50 fetal alcohol syndrome 9.8 NKX2-5 TBX1 TBX5

Graphical network of the top 20 diseases related to Holt-Oram Syndrome:



Diseases related to Holt-Oram Syndrome

Symptoms & Phenotypes for Holt-Oram Syndrome

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Vascular:
patent ductus arteriosus

Skeletal- Spine:
vertebral anomalies
thoracic scoliosis

Chest- External Features:
absent pectoralis major muscle

Cardiovascular- Heart:
ventricular septal defect
hypoplastic left heart syndrome
atrial septal defect (ostium secundum type)

Skeletal- Limbs:
triphalangeal thumb
bifid thumb
absent thumb
carpal bone anomalies
upper extremity phocomelia
more
Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum or carinatum


Clinical features from OMIM:

142900

Human phenotypes related to Holt-Oram Syndrome:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 patent ductus arteriosus 56 32 very rare (1%) Occasional (29-5%) HP:0001643
3 ventricular septal defect 56 32 very rare (1%) Frequent (79-30%) HP:0001629
4 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
5 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
6 radioulnar synostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002974
7 sprengel anomaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000912
8 triphalangeal thumb 56 32 frequent (33%) Frequent (79-30%) HP:0001199
9 phocomelia 56 32 very rare (1%) Occasional (29-5%) HP:0009829
10 hypoplastic left heart 56 32 occasional (7.5%) Occasional (29-5%) HP:0004383
11 paroxysmal atrial fibrillation 56 32 frequent (33%) Frequent (79-30%) HP:0004757
12 broad thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0011304
13 atrioventricular canal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0006695
14 absent thumb 56 32 frequent (33%) Frequent (79-30%) HP:0009777
15 anomalous pulmonary venous return 56 32 occasional (7.5%) Occasional (29-5%) HP:0010772
16 down-sloping shoulders 56 32 occasional (7.5%) Occasional (29-5%) HP:0200021
17 first degree atrioventricular block 56 32 frequent (33%) Frequent (79-30%) HP:0011705
18 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
19 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
20 abnormality of the aorta 56 32 occasional (7.5%) Occasional (29-5%) HP:0001679
21 aplasia/hypoplasia of the radius 56 32 frequent (33%) Frequent (79-30%) HP:0006501
22 abnormality of the humerus 56 32 occasional (7.5%) Occasional (29-5%) HP:0003063
23 atrial septal defect 32 very rare (1%) HP:0001631
24 atrioventricular block 56 Frequent (79-30%)
25 thoracic scoliosis 32 very rare (1%) HP:0002943
26 abnormality of the vertebrae 32 HP:0003468
27 atria septal defect 56 Frequent (79-30%)
28 partial duplication of thumb phalanx 32 HP:0009944
29 abnormality of the sternum 32 very rare (1%) HP:0000766
30 hypoplasia of the radius 32 very rare (1%) HP:0002984
31 aplasia of the pectoralis major muscle 32 very rare (1%) HP:0009751
32 abnormality of the carpal bones 32 HP:0001191

MGI Mouse Phenotypes related to Holt-Oram Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 EP300 MYH6 MYH7 NKX2-5 SALL4 SHOX2
2 craniofacial MP:0005382 9.95 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
3 embryo MP:0005380 9.92 EP300 KAT2B NKX2-5 SALL4 TBX1 TBX3
4 digestive/alimentary MP:0005381 9.91 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
5 growth/size/body region MP:0005378 9.91 EP300 KAT2B NKX2-5 SALL4 SHOX2 TBX1
6 mortality/aging MP:0010768 9.7 SRSF2 TBX1 TBX3 TBX5 TGFB2 EP300
7 limbs/digits/tail MP:0005371 9.63 SHOX2 TBX1 SALL4 TBX3 TBX5 TGFB2
8 muscle MP:0005369 9.28 EP300 MYH6 MYH7 NKX2-5 SRSF2 TBX1

Drugs & Therapeutics for Holt-Oram Syndrome

Drugs for Holt-Oram Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
2
Doxil Approved June 1999 Phase 2 31703
3 Anti-Bacterial Agents Phase 2
4 Antibiotics, Antitubercular Phase 2
5 Topoisomerase Inhibitors Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Doxil in the Treatment of Patients With Refractory Idiopathic Thrombocytopenic Purpura Unknown status NCT00107913 Phase 2 Doxil

Search NIH Clinical Center for Holt-Oram Syndrome

Cochrane evidence based reviews: holt-oram syndrome

Genetic Tests for Holt-Oram Syndrome

Genetic tests related to Holt-Oram Syndrome:

id Genetic test Affiliating Genes
1 Holt-Oram Syndrome 29

Anatomical Context for Holt-Oram Syndrome

MalaCards organs/tissues related to Holt-Oram Syndrome:

39
Heart, Bone, Lung, Testes, Prostate

Publications for Holt-Oram Syndrome

Articles related to Holt-Oram Syndrome:

(show top 50) (show all 203)
id Title Authors Year
1
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. ( 28164238 )
2017
2
Holt-Oram Syndrome: A Rare Variant. ( 28761211 )
2017
3
Holt-Oram syndrome: Anesthetic challenges and safe outcome. ( 28074809 )
2017
4
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. ( 27958623 )
2016
5
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. ( 27026770 )
2016
6
Left Ventricular Non-compaction in Holt-Oram Syndrome. ( 26874791 )
2016
7
Holt Oram syndrome: a case report and review of the literature. ( 27048037 )
2016
8
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. ( 27495810 )
2016
9
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )
2016
10
Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction. ( 26882979 )
2016
11
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. ( 27695215 )
2016
12
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research. ( 26990964 )
2016
13
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. ( 27035640 )
2016
14
Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. ( 27471727 )
2016
15
Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C. ( 27552067 )
2016
16
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. ( 27652283 )
2016
17
Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association. ( 27293527 )
2016
18
Horseshoe Lung Associated With Holt-Oram Syndrome. ( 26195995 )
2015
19
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. ( 26780237 )
2015
20
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome. ( 26219450 )
2015
21
Defining Features of the Upper Extremity in Holt-Oram Syndrome. ( 26243320 )
2015
22
MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. ( 26657204 )
2015
23
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. ( 25680289 )
2015
24
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. ( 25903110 )
2015
25
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
26
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. ( 24879328 )
2014
27
Holt Oram syndrome: a registry-based study in Europe. ( 25344219 )
2014
28
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. ( 25274398 )
2014
29
Holt-Oram syndrome: a case report. ( 25455949 )
2014
30
A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis. ( 24408148 )
2014
31
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. ( 24664498 )
2014
32
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. ( 25216260 )
2014
33
Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision. ( 25886110 )
2014
34
Holt-Oram syndrome. ( 24656395 )
2014
35
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. ( 24826304 )
2014
36
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. ( 24011877 )
2013
37
Holt-Oram syndrome with aortopulmonary window - a rare association. ( 24124729 )
2013
38
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. ( 24185902 )
2013
39
Anesthetic implications in Holt-Oram Syndrome. ( 23545878 )
2013
40
Holt-oram syndrome associated with double outlet right ventricle: A rare association. ( 23626447 )
2013
41
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation. ( 23984174 )
2013
42
Tetralogy of Fallot with Holt-Oram syndrome. ( 22572437 )
2012
43
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. ( 22333898 )
2012
44
Rare cardiac defect in Holt-Oram syndrome. ( 22447508 )
2012
45
Unusual combination of holt-oram syndrome and persistent left superior vena cava. ( 22129221 )
2012
46
Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery. ( 21272410 )
2011
47
[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. ( 21752519 )
2011
48
A case report on holt-oram syndrome (heart-hand). ( 22577452 )
2011
49
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene. ( 22190901 )
2011
50
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. ( 21637475 )
2010

Variations for Holt-Oram Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Holt-Oram Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 TBX5 p.Arg237Gln VAR_007456 rs104894378
2 TBX5 p.Gly80Arg VAR_009701 rs104894381
3 TBX5 p.Arg237Trp VAR_009702 rs104894382
4 TBX5 p.Gln49Lys VAR_015381 rs104894383
5 TBX5 p.Ile54Thr VAR_015382 rs104894384

ClinVar genetic disease variations for Holt-Oram Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 TBX5, 1491C-T single nucleotide variant Pathogenic
2 TBX5 NM_000192.3(TBX5): c.205G> T (p.Glu69Ter) single nucleotide variant Pathogenic rs104894377 GRCh37 Chromosome 12, 114839668: 114839668
3 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh37 Chromosome 12, 114823326: 114823326
4 TBX5 NM_000192.3(TBX5): c.238G> A (p.Gly80Arg) single nucleotide variant Pathogenic rs104894381 GRCh37 Chromosome 12, 114839635: 114839635
5 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
6 TBX5 TBX5, 1-BP DEL, 416C deletion Pathogenic
7 TBX5 NM_000192.3(TBX5): c.145C> A (p.Gln49Lys) single nucleotide variant Pathogenic rs104894383 GRCh37 Chromosome 12, 114841559: 114841559
8 TBX5 NM_000192.3(TBX5): c.161T> C (p.Ile54Thr) single nucleotide variant Pathogenic rs104894384 GRCh37 Chromosome 12, 114839712: 114839712
9 TBX5 NM_000192.3(TBX5): c.408C> A (p.Tyr136Ter) single nucleotide variant Pathogenic rs104894379 GRCh37 Chromosome 12, 114836480: 114836480
10 TBX5 NM_000192.3(TBX5): c.105delC (p.Ser36Alafs) deletion Pathogenic rs1057516042 GRCh38 Chromosome 12, 114403794: 114403794
11 TBX5 TBX5, 48-KB DUP, EX2-9DUP duplication Pathogenic
12 TGFB2 NM_003238.4(TGFB2): c.252dupG (p.Arg85Glufs) duplication Pathogenic GRCh37 Chromosome 1, 218520295: 218520295

Expression for Holt-Oram Syndrome

Search GEO for disease gene expression data for Holt-Oram Syndrome.

Pathways for Holt-Oram Syndrome

Pathways related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 KAT2B MYH6 NKX2-5 TBX5
2
Show member pathways
12.07 MYH7 NKX2-5 TBX5 TGFB2
3 11.72 EP300 KAT2B TGFB2
4 11.64 EP300 KAT2B MYH6
5 11.53 NKX2-5 TBX5 TGFB2
6 11.32 EP300 KAT2B NKX2-5
7
Show member pathways
11.18 EP300 KAT2B NKX2-5 TBX5
8 11.06 MYH6 NKX2-5 TBX5
9 10.79 NKX2-5 TBX1 TBX5
10 10.78 MYH7 NKX2-5

GO Terms for Holt-Oram Syndrome

Cellular components related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 8.96 MYH6 MYH7
2 myosin filament GO:0032982 8.62 MYH6 MYH7

Biological processes related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

(show all 39)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.98 EP300 KAT2B NKX2-5 SALL4 SHOX2 TBX1
2 positive regulation of cell proliferation GO:0008284 9.97 NKX2-5 TBX1 TBX3 TGFB2
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 EP300 KAT2B NKX2-5 TBX1 TBX3 TBX5
4 in utero embryonic development GO:0001701 9.85 MYH6 SALL4 TBX3
5 skeletal system development GO:0001501 9.82 SHOX2 TBX3 TGFB2
6 outflow tract morphogenesis GO:0003151 9.74 NKX2-5 TBX1 TBX3
7 cardiac muscle contraction GO:0060048 9.72 MYH6 MYH7 NKX2-5
8 ventricular septum morphogenesis GO:0060412 9.7 NKX2-5 TBX3 TGFB2
9 embryonic forelimb morphogenesis GO:0035115 9.69 SHOX2 TBX3 TBX5
10 regulation of heart rate GO:0002027 9.67 MYH6 MYH7
11 ventricular septum development GO:0003281 9.67 SALL4 TBX5
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.66 SHOX2 TBX1
13 thyroid gland development GO:0030878 9.66 NKX2-5 TBX1
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYH6 MYH7
15 striated muscle contraction GO:0006941 9.65 MYH6 MYH7
16 cardiac muscle cell differentiation GO:0055007 9.65 NKX2-5 TBX3 TBX5
17 regulation of the force of heart contraction GO:0002026 9.64 MYH6 MYH7
18 embryonic heart tube development GO:0035050 9.64 NKX2-5 TBX3
19 pharyngeal system development GO:0060037 9.63 NKX2-5 TBX1
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 NKX2-5 TGFB2
21 outflow tract septum morphogenesis GO:0003148 9.63 NKX2-5 TBX1 TGFB2
22 cardiac muscle cell proliferation GO:0060038 9.62 NKX2-5 TGFB2
23 protein acetylation GO:0006473 9.61 EP300 KAT2B
24 forelimb morphogenesis GO:0035136 9.61 TBX3 TBX5
25 atrioventricular valve morphogenesis GO:0003181 9.6 TBX5 TGFB2
26 muscle tissue morphogenesis GO:0060415 9.58 SHOX2 TBX1
27 positive regulation of heart contraction GO:0045823 9.58 NKX2-5 TGFB2
28 internal peptidyl-lysine acetylation GO:0018393 9.56 EP300 KAT2B
29 embryonic limb morphogenesis GO:0030326 9.56 SALL4 SHOX2 TBX5 TGFB2
30 N-terminal peptidyl-lysine acetylation GO:0018076 9.54 EP300 KAT2B
31 atrial septum morphogenesis GO:0060413 9.54 NKX2-5 TBX5 TGFB2
32 adult heart development GO:0007512 9.5 MYH6 MYH7 NKX2-5
33 bundle of His development GO:0003166 9.49 NKX2-5 TBX5
34 heart morphogenesis GO:0003007 9.46 NKX2-5 TBX1 TBX3 TGFB2
35 heart development GO:0007507 9.17 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX5
36 positive regulation of cardioblast differentiation GO:0051891 9.13 NKX2-5 TBX5 TGFB2
37 regulation of transcription, DNA-templated GO:0006355 10.19 EP300 KAT2B NKX2-5 SALL4 SHOX2 TBX1
38 multicellular organism development GO:0007275 10.08 NKX2-5 SHOX2 TBX1 TBX3 TBX5
39 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.02 EP300 NKX2-5 SALL4 SHOX2 TBX3

Molecular functions related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.85 NKX2-5 SALL4 TBX1 TBX3 TBX5
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.61 EP300 NKX2-5 TBX5
4 microfilament motor activity GO:0000146 9.4 MYH6 MYH7
5 transcription factor binding GO:0008134 9.35 EP300 KAT2B NKX2-5 SALL4 TBX5
6 acetyltransferase activity GO:0016407 9.32 EP300 KAT2B
7 actin-dependent ATPase activity GO:0030898 9.26 MYH6 MYH7
8 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor GO:0004468 9.16 EP300 KAT2B
9 sequence-specific DNA binding GO:0043565 9.1 NKX2-5 SALL4 SHOX2 TBX1 TBX3 TBX5

Sources for Holt-Oram Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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