Aliases & Classifications for Holt-Oram Syndrome

MalaCards integrated aliases for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 53 12 23 49 24 71 36 28 13 51 41 14 69
Atriodigital Dysplasia 53 12 49 24
Hos 53 49 24 71
Heart-Hand Syndrome 53 12 49
Heart-Hand Syndrome, Type 1 49 24
Ventriculo-Radial Syndrome 49 24
Atrio-Digital Syndrome 12 24
Cardiac-Limb Syndrome 49 24
Atrio Digital Syndrome 49
Hearthand Syndrome 23
Holt Oram Syndrome 51
Hos 1 49
Hos1 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
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 : 49 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 atriodigital dysplasia, is related to duane-radial ray syndrome and atrial heart septal defect, and has symptoms including joint stiffness, pectus excavatum and finger syndactyly. 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 : 24 Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

OMIM : 53 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 related to Holt-Oram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 duane-radial ray syndrome 32.4 SALL4 TBX5
2 atrial heart septal defect 30.6 MYH6 NKX2-5 TBX5
3 tetralogy of fallot 30.0 NKX2-5 TBX1 TBX5
4 heart disease 29.2 MYH6 MYH7 NKX2-5 TBX1 TBX5
5 dilated cardiomyopathy 28.6 MYH6 MYH7 NKX2-5 TBX5 TGFB2
6 heart-hand syndrome, slovenian type 12.4
7 heart-hand syndrome, spanish type 12.4
8 tabatznik syndrome 11.5
9 polydactyly, preaxial ii 11.3
10 polydactyly 10.4
11 atrial fibrillation 10.4
12 murcs association 10.4 TBX3 TBX5
13 acheiropody 10.4 TBX3 TBX5
14 ovarian endodermal sinus tumor 10.3 NKX2-5 SALL4
15 hypoplastic left heart syndrome 1 10.2
16 hypoplastic left heart syndrome 10.2
17 ventricular septal defect 10.2
18 fetal thalidomide syndrome 10.2
19 ovarian primitive germ cell tumor 10.2 NKX2-5 SALL4
20 myosin storage myopathy 10.2 MYH6 MYH7
21 ebstein anomaly 10.2 MYH7 NKX2-5
22 mayer-rokitansky-kuster-hauser syndrome 10.2 TBX3 TBX5
23 patent foramen ovale 10.2 MYH6 NKX2-5 TBX5
24 tricuspid valve disease 10.2 MYH7 NKX2-5
25 apocrine gland secretion, variation in 10.1
26 kleine-levin hibernation syndrome 10.1
27 monilethrix 10.1
28 pheochromocytoma 10.1
29 conotruncal heart malformations 10.1
30 duodenal atresia 10.1
31 gillessen-kaesbach-nishimura syndrome 10.1
32 lung agenesis 10.1
33 horns in sheep 10.1
34 lung agenesis, congenital heart defects, and thumb anomalies syndrome 10.1
35 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.1
36 patent ductus arteriosus 1 10.1
37 pulmonary hypertension 10.1
38 osteonecrosis 10.1
39 microcephaly 10.1
40 myopia 10.1
41 prostatitis 10.1
42 cerebritis 10.1
43 malignant hyperthermia 10.1
44 duodenitis 10.1
45 lymphosarcoma 10.1
46 aortic coarctation 10.1
47 aortopulmonary window 10.1
48 syncope 10.1
49 char syndrome 10.0 EP300 NKX2-5 TBX5
50 wolff-parkinson-white syndrome 10.0 MYH7 NKX2-5

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:

53
Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Limbs:
triphalangeal thumb
absent thumb
bifid thumb
carpal bone anomalies
upper extremity phocomelia
more
Chest External Features:
absent pectoralis major muscle

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

Skeletal Spine:
thoracic scoliosis
vertebral anomalies

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum or carinatum


Clinical features from OMIM:

142900

Human phenotypes related to Holt-Oram Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 hallmark (90%) HP:0001387
2 pectus excavatum 31 occasional (7.5%) HP:0000767
3 finger syndactyly 31 occasional (7.5%) HP:0006101
4 scoliosis 31 frequent (33%) HP:0002650
5 kyphosis 31 frequent (33%) HP:0002808
6 abnormal vertebral morphology 31 HP:0003468
7 broad thumb 31 occasional (7.5%) HP:0011304
8 patent ductus arteriosus 31 very rare (1%) HP:0001643
9 atrial septal defect 31 very rare (1%) HP:0001631
10 hypoplastic left heart 31 occasional (7.5%) HP:0004383
11 sprengel anomaly 31 occasional (7.5%) HP:0000912
12 first degree atrioventricular block 31 frequent (33%) HP:0011705
13 abnormality of the metacarpal bones 31 frequent (33%) HP:0001163
14 ventricular septal defect 31 very rare (1%) HP:0001629
15 abnormality of the ribs 31 occasional (7.5%) HP:0000772
16 split hand 31 hallmark (90%) HP:0001171
17 radioulnar synostosis 31 occasional (7.5%) HP:0002974
18 down-sloping shoulders 31 occasional (7.5%) HP:0200021
19 triphalangeal thumb 31 frequent (33%) HP:0001199
20 partial duplication of thumb phalanx 31 HP:0009944
21 abnormality of the clavicle 31 hallmark (90%) HP:0000889
22 abnormality of the sternum 31 very rare (1%) HP:0000766
23 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
24 abnormal aortic morphology 31 occasional (7.5%) HP:0001679
25 hypoplasia of the radius 31 very rare (1%) HP:0002984
26 aplasia/hypoplasia of the radius 31 frequent (33%) HP:0006501
27 phocomelia 31 very rare (1%) HP:0009829
28 aplasia of the pectoralis major muscle 31 very rare (1%) HP:0009751
29 abnormality of the carpal bones 31 HP:0001191
30 abnormality of the humerus 31 occasional (7.5%) HP:0003063
31 anomalous pulmonary venous return 31 occasional (7.5%) HP:0010772
32 thoracic scoliosis 31 very rare (1%) HP:0002943
33 absent thumb 31 frequent (33%) HP:0009777
34 paroxysmal atrial fibrillation 31 frequent (33%) HP:0004757

MGI Mouse Phenotypes related to Holt-Oram Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 MYH7 NKX2-5 SALL4 SHOX2 SRSF2 TBX1
2 craniofacial MP:0005382 9.98 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
3 embryo MP:0005380 9.97 EP300 KAT2B NKX2-5 SALL4 TBX1 TBX3
4 growth/size/body region MP:0005378 9.97 EP300 KAT2B NKX2-5 SALL4 SHOX2 TBX1
5 digestive/alimentary MP:0005381 9.95 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
6 homeostasis/metabolism MP:0005376 9.91 EP300 MYH6 NKX2-5 SALL4 SHOX2 TBX1
7 mortality/aging MP:0010768 9.7 EP300 KAT2B MYH6 NKX2-5 SALL4 SHOX2
8 limbs/digits/tail MP:0005371 9.63 SALL4 SHOX2 TBX1 TBX3 TBX5 TGFB2
9 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):


# 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:


# 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:

# Genetic test Affiliating Genes
1 Holt-Oram Syndrome 28 TBX5

Anatomical Context for Holt-Oram Syndrome

MalaCards organs/tissues related to Holt-Oram Syndrome:

38
Heart, Bone, Lung, Testes, Prostate

The Foundational Model of Anatomy Ontology organs/tissues related to Holt-Oram Syndrome:

18
Heart, Upper Limb

Publications for Holt-Oram Syndrome

Articles related to Holt-Oram Syndrome:

(show top 50) (show all 203)
# Title Authors Year
1
Holt-Oram Syndrome: A Rare Variant. ( 28761211 )
2017
2
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. ( 28164238 )
2017
3
Holt-Oram syndrome: Anesthetic challenges and safe outcome. ( 28074809 )
2017
4
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
5
Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C. ( 27552067 )
2016
6
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. ( 27652283 )
2016
7
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. ( 27495810 )
2016
8
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. ( 27695215 )
2016
9
Left Ventricular Non-compaction in Holt-Oram Syndrome. ( 26874791 )
2016
10
Holt Oram syndrome: a case report and review of the literature. ( 27048037 )
2016
11
Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association. ( 27293527 )
2016
12
Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. ( 27471727 )
2016
13
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research. ( 26990964 )
2016
14
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. ( 27090505 )
2016
15
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. ( 27035640 )
2016
16
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. ( 27026770 )
2016
17
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. ( 27958623 )
2016
18
Defining Features of the Upper Extremity in Holt-Oram Syndrome. ( 26243320 )
2015
19
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
20
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. ( 26780237 )
2015
21
MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. ( 26657204 )
2015
22
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome. ( 26219450 )
2015
23
Horseshoe Lung Associated With Holt-Oram Syndrome. ( 26195995 )
2015
24
Monilethrix with holt-oram syndrome: case report of a rare association. ( 25878448 )
2015
25
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. ( 25903110 )
2015
26
Holt-Oram syndrome: a case report. ( 25455949 )
2014
27
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. ( 24879328 )
2014
28
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. ( 25216260 )
2014
29
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. ( 24664498 )
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
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. ( 25274398 )
2014
32
Holt-Oram syndrome. ( 24656395 )
2014
33
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. ( 24826304 )
2014
34
Holt Oram syndrome: a registry-based study in Europe. ( 25344219 )
2014
35
Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision. ( 25886110 )
2014
36
Holt-Oram syndrome with aortopulmonary window - a rare association. ( 24124729 )
2013
37
Holt-oram syndrome associated with double outlet right ventricle: A rare association. ( 23626447 )
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
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation. ( 23984174 )
2013
41
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. ( 24011877 )
2013
42
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. ( 22333898 )
2012
43
Rare cardiac defect in Holt-Oram syndrome. ( 22447508 )
2012
44
Tetralogy of Fallot with Holt-Oram syndrome. ( 22572437 )
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
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome. ( 21547188 )
2010

Variations for Holt-Oram Syndrome

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

71
# 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 13)
# 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 GRCh38 Chromosome 1, 218346953: 218346953
13 TGFB2 NM_003238.4(TGFB2): c.892_901delCGGCGGAAGA (p.Arg298Serfs) deletion Pathogenic GRCh38 Chromosome 1, 218436107: 218436116

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 KAT2B MYH6 NKX2-5 TBX5
2
Show member pathways
12.07 MYH7 NKX2-5 TBX5 TGFB2
3
Show member pathways
11.87 MYH6 MYH7 TGFB2
4 11.74 EP300 KAT2B TGFB2
5 11.64 EP300 KAT2B MYH6
6 11.53 NKX2-5 TBX5 TGFB2
7 11.32 EP300 KAT2B NKX2-5
8
Show member pathways
11.18 EP300 KAT2B NKX2-5 TBX5
9 11.06 MYH6 NKX2-5 TBX5
10 10.79 NKX2-5 TBX1 TBX5
11 10.78 MYH7 NKX2-5

GO Terms for Holt-Oram Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 9.16 MYH6 MYH7
2 myosin filament GO:0032982 8.96 MYH6 MYH7
3 macromolecular complex GO:0032991 8.62 NKX2-5 TBX5

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II 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 9.83 SHOX2 TBX3 TGFB2
6 BMP signaling pathway GO:0030509 9.77 MYH6 NKX2-5 TGFB2
7 outflow tract morphogenesis GO:0003151 9.74 NKX2-5 TBX1 TBX3
8 cardiac muscle contraction GO:0060048 9.72 MYH6 MYH7 NKX2-5
9 ventricular septum morphogenesis GO:0060412 9.69 NKX2-5 TBX3 TGFB2
10 regulation of heart rate GO:0002027 9.68 MYH6 MYH7
11 ventricular septum development GO:0003281 9.68 SALL4 TBX5
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 SHOX2 TBX1
13 thyroid gland development GO:0030878 9.67 NKX2-5 TBX1
14 embryonic forelimb morphogenesis GO:0035115 9.67 SHOX2 TBX3 TBX5
15 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.66 MYH6 MYH7
16 striated muscle contraction GO:0006941 9.66 MYH6 MYH7
17 embryonic heart tube development GO:0035050 9.65 NKX2-5 TBX3
18 regulation of the force of heart contraction GO:0002026 9.65 MYH6 MYH7
19 cardiac muscle cell differentiation GO:0055007 9.65 NKX2-5 TBX3 TBX5
20 pharyngeal system development GO:0060037 9.64 NKX2-5 TBX1
21 ventricular trabecula myocardium morphogenesis GO:0003222 9.64 NKX2-5 TGFB2
22 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MYH6 MYH7
23 cardiac muscle cell proliferation GO:0060038 9.63 NKX2-5 TGFB2
24 outflow tract septum morphogenesis GO:0003148 9.63 NKX2-5 TBX1 TGFB2
25 protein acetylation GO:0006473 9.62 EP300 KAT2B
26 forelimb morphogenesis GO:0035136 9.61 TBX3 TBX5
27 atrioventricular valve morphogenesis GO:0003181 9.61 TBX5 TGFB2
28 positive regulation of heart contraction GO:0045823 9.59 NKX2-5 TGFB2
29 muscle tissue morphogenesis GO:0060415 9.58 SHOX2 TBX1
30 internal peptidyl-lysine acetylation GO:0018393 9.56 EP300 KAT2B
31 embryonic limb morphogenesis GO:0030326 9.56 SALL4 SHOX2 TBX5 TGFB2
32 N-terminal peptidyl-lysine acetylation GO:0018076 9.54 EP300 KAT2B
33 adult heart development GO:0007512 9.54 MYH6 MYH7 NKX2-5
34 bundle of His development GO:0003166 9.52 NKX2-5 TBX5
35 atrial septum morphogenesis GO:0060413 9.5 NKX2-5 TBX5 TGFB2
36 heart morphogenesis GO:0003007 9.46 NKX2-5 TBX1 TBX3 TGFB2
37 heart development GO:0007507 9.17 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX5
38 positive regulation of cardioblast differentiation GO:0051891 9.13 NKX2-5 TBX5 TGFB2
39 regulation of transcription, DNA-templated GO:0006355 10.19 EP300 KAT2B NKX2-5 SALL4 SHOX2 TBX1
40 multicellular organism development GO:0007275 10.08 NKX2-5 SHOX2 TBX1 TBX3 TBX5
41 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 EP300 NKX2-5 SALL4 SHOX2 TBX3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.95 EP300 NKX2-5 SALL4 SHOX2 TBX1 TBX3
2 DNA binding transcription factor activity GO:0003700 9.88 NKX2-5 SALL4 TBX1 TBX3 TBX5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 EP300 NKX2-5 TBX3 TBX5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.63 EP300 NKX2-5 TBX5
5 microfilament motor activity GO:0000146 9.43 MYH6 MYH7
6 transcription factor binding GO:0008134 9.35 EP300 KAT2B NKX2-5 SALL4 TBX5
7 acetyltransferase activity GO:0016407 9.32 EP300 KAT2B
8 actin-dependent ATPase activity GO:0030898 9.26 MYH6 MYH7
9 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor GO:0004468 9.16 EP300 KAT2B
10 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....