MCID: HLT001
MIFTS: 60

Holt-Oram Syndrome malady

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

Aliases & Classifications for Holt-Oram Syndrome

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 50 11 22 46 24 13 52 68 25 12 48 37 66
Hos 46 24 52 68
Atriodigital Dysplasia 11 46 24
Heart-Hand Syndrome, Type 1 46 24
Ventriculo-Radial Syndrome 46 24
Atrio-Digital Syndrome 11 24
Cardiac-Limb Syndrome 46 24
 
Heart-Hand Syndrome 11 46
Atriodigital Dysplasia Type 1 52
Heart-Hand Syndrome Type 1 52
Atrio Digital Syndrome 46
Hearthand Syndrome 22
Holt Oram Syndrome 48
Hos 1 46

Characteristics:

Orphanet epidemiological data:

52
holt-oram syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Hungary); Age of onset: Neonatal; Age of death: any age

HPO:

62
holt-oram syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 142900
Disease Ontology11 DOID:0060468
ICD1028 Q87.2
MeSH37 C535326
Orphanet52 ORPHA392
SNOMED-CT60 19092004, 205814003
MESH via Orphanet38 C535326
UMLS via Orphanet67 C0265264
ICD10 via Orphanet29 Q87.2
MedGen35 C0265264

Summaries for Holt-Oram Syndrome

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NIH Rare Diseases:46 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 tbx5-related holt-oram syndrome and sall4-related holt-oram syndrome, and has symptoms including abnormality of the wrist, abnormality of the metacarpal bones and triphalangeal thumb. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box 5), and among its related pathways are Regulation of nuclear SMAD2/3 signaling and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include heart, upper limb and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:11 An autosomal dominant disease characterized by congenital anomalies located in heart and located in upper limb.

UniProtKB/Swiss-Prot:68 Holt-Oram syndrome: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Genetics Home Reference:24 Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

Description from OMIM:50 142900

GeneReviews summary for NBK1111

Related Diseases for Holt-Oram Syndrome

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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 55)
idRelated DiseaseScoreTop Affiliating Genes
1tbx5-related holt-oram syndrome12.3
2sall4-related holt-oram syndrome12.3
3heart-hand syndrome, slovenian type11.0
4heart-hand syndrome, spanish type11.0
5tabatznik syndrome11.0
6atrial fibrillation10.5
7polydactyly10.5
8knobloch syndrome10.4TBX3, TBX5
9duane-radial ray syndrome10.4
10polydactyly, preaxial type ii10.3TBX3, TBX5
11tetralogy of fallot10.3
12hypoplastic left heart syndrome10.3
13heart disease10.3
14ventricular septal defect10.3
15congenital heart disease10.3
16acta1-related nemaline myopathy10.3SALL4, TBX5
17keratosis follicularis, dwarfism, and cerebral atrophy10.2TBX3, TBX5
18pseudohypoparathyroidism ia10.2SALL4, TBX5
19pheochromocytoma10.2
20prostate cancer10.2
21monilethrix10.2
22lung agenesis10.2
23pulmonary hypertension10.2
24osteonecrosis10.2
25microcephaly10.2
26myopia10.2
27prostatitis10.2
28cerebritis10.2
29malignant hyperthermia10.2
30lymphosarcoma10.2
31aortic coarctation10.2
32aortopulmonary window10.2
33patent ductus arteriosus10.2
34acro-renal-ocular syndrome10.2
35syncope10.2
36multiple ventricular septal defects10.2
37fetal alcohol syndrome10.1NKX2-5, TBX5
38colonic disease10.1NKX2-5, SALL4
39focal epithelial hyperplasia10.1NKX2-5, SALL4
40second-degree atrioventricular block10.0NKX2-5, TBX5
41surfactant metabolism dysfunction, pulmonary, 210.0NKX2-5, TBX1
42neovascular glaucoma9.9NKX2-5, TBX1, TBX5
43melanotic neuroectodermal tumor9.9NKX2-5, SALL4, TBX5
44holt-oram syndrome9.9TBX1, TBX3, TBX5
45neuroendocrine tumor9.9NKX2-5, TBX1, TBX5
46slowed nerve conduction velocity, ad9.8NKX2-5, TBX1, TBX5
47tricuspid valve disease9.8MYH6, TBX3
48allergic rhinitis9.8
49oligodendroglioma9.8
50rhinitis9.8

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



Diseases related to holt-oram syndrome

Symptoms for Holt-Oram Syndrome

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Symptoms by clinical synopsis from OMIM:

142900

Clinical features from OMIM:

142900

Symptoms:

 52 (show all 24)
  • pectus excavatum
  • abnormality of the ribs
  • sprengel anomaly
  • abnormality of the metacarpal bones
  • triphalangeal thumb
  • ventricular septal defect
  • defect in the atrial septum
  • patent ductus arteriosus
  • atrioventricular block
  • abnormality of the aorta
  • scoliosis
  • radioulnar synostosis
  • abnormality of the humerus
  • hypoplastic left heart
  • paroxysmal atrial fibrillation
  • finger syndactyly
  • aplasia/hypoplasia of the radius
  • atrioventricular canal defect
  • absent thumb
  • phocomelia
  • anomalous pulmonary venous return
  • broad thumb
  • first degree atrioventricular block
  • down-sloping shoulders

HPO human phenotypes related to Holt-Oram Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the wrist hallmark (90%) HP:0003019
2 abnormality of the metacarpal bones typical (50%) HP:0001163
3 triphalangeal thumb typical (50%) HP:0001199
4 ventricular septal defect typical (50%) HP:0001629
5 atria septal defect typical (50%) HP:0001631
6 aplasia/hypoplasia of the radius typical (50%) HP:0006501
7 aplasia/hypoplasia of the thumb typical (50%) HP:0009601
8 arrhythmia typical (50%) HP:0011675
9 atria septal defect 41.4634% HP:0001631
10 hypoplasia of the radius 37.8049% HP:0002984
11 ventricular septal defect 14.6341% HP:0001629
12 phocomelia 10.9756% HP:0009829
13 abnormality of the sternum occasional (7.5%) HP:0000766
14 pectus excavatum occasional (7.5%) HP:0000767
15 abnormality of the ribs occasional (7.5%) HP:0000772
16 sprengel anomaly occasional (7.5%) HP:0000912
17 patent ductus arteriosus occasional (7.5%) HP:0001643
18 complete atrioventricular canal defect occasional (7.5%) HP:0001674
19 abnormality of the aorta occasional (7.5%) HP:0001679
20 scoliosis occasional (7.5%) HP:0002650
21 thoracic scoliosis occasional (7.5%) HP:0002943
22 radioulnar synostosis occasional (7.5%) HP:0002974
23 abnormality of the shoulder occasional (7.5%) HP:0003043
24 abnormality of the humerus occasional (7.5%) HP:0003063
25 hypoplastic left heart occasional (7.5%) HP:0004383
26 finger syndactyly occasional (7.5%) HP:0006101
27 aplasia of the pectoralis major muscle occasional (7.5%) HP:0009751
28 phocomelia occasional (7.5%) HP:0009829
29 anomalous pulmonary venous return occasional (7.5%) HP:0010772
30 abnormality of the carpal bones HP:0001191
31 triphalangeal thumb HP:0001199
32 abnormality of the vertebrae HP:0003468
33 hypoplastic left heart HP:0004383
34 absent thumb HP:0009777
35 partial duplication of thumb phalanx HP:0009944

UMLS symptoms related to Holt-Oram Syndrome:


cardiac dyskinesia

Drugs & Therapeutics for Holt-Oram Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DoxilApproved June 1999Phase 2167631703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
2
DoxorubicinPhase 2167623214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Doxil in the Treatment of Patients With Refractory Idiopathic Thrombocytopenic PurpuraRecruitingNCT00107913Phase 2

Search NIH Clinical Center for Holt-Oram Syndrome


Cochrane evidence based reviews: holt-oram syndrome

Genetic Tests for Holt-Oram Syndrome

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Genetic tests related to Holt-Oram Syndrome:

id Genetic test Affiliating Genes
1 Holt-Oram Syndrome25

Anatomical Context for Holt-Oram Syndrome

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MalaCards organs/tissues related to Holt-Oram Syndrome:

34
Heart, Bone, Lung, Testes, Prostate

FMA organs/tissues related to Holt-Oram Syndrome:

17
Heart, Upper limb

Animal Models for Holt-Oram Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Holt-Oram Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6SALL4, TBX1, TBX3, TBX5
2MP:00053828.4EP300, NKX2-5, SALL4, TBX1, TBX3
3MP:00028738.3EP300, NKX2-5, TBX1, TBX3, TBX5
4MP:00053807.8EP300, NKX2-5, SALL4, TBX1, TBX3, TBX5
5MP:00053797.5EP300, NKX2-5, SRSF2, TBX1, TBX3
6MP:00053697.3EP300, MYH6, NKX2-5, SRSF2, TBX1, TBX3
7MP:00107686.5EP300, MYH6, NKX2-5, SALL4, SRSF2, TBX1
8MP:00053856.3EP300, MYH6, NKX2-5, SALL4, SRSF2, TBX1

Publications for Holt-Oram Syndrome

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Articles related to Holt-Oram Syndrome:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. (27471727)
2016
2
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. (27652283)
2016
3
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. (27090505)
2016
4
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. (27026770)
2016
5
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
6
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. (25903110)
2015
7
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. (24826304)
2014
8
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. (25274398)
2014
9
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. (24879328)
2014
10
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. (24185902)
2013
11
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
12
Holt-Oram syndrome with aortopulmonary window - a rare association. (24124729)
2013
13
Unusual combination of holt-oram syndrome and persistent left superior vena cava. (22129221)
2012
14
Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. (21752519)
2011
15
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome. (21547188)
2010
16
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. (19648116)
2009
17
Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch. (18685167)
2008
18
Holt-oram syndrome and atrial fibrillation: opening the (T)-box. (18535267)
2008
19
Picture of the month. Holt-Oram syndrome. (17606836)
2007
20
Holt-oram syndrome with hemizygous continuation of inferior vena cava. (16551828)
2006
21
Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome. (16252013)
2005
22
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. (15710732)
2005
23
A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome. (16332960)
2005
24
Mayer-von Rokitansky-KA1ster-Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window. (15070885)
2004
25
Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. (15039979)
2004
26
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. (12499378)
2003
27
Holt-Oram syndrome: is there a "face"? (12687661)
2003
28
Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. (12818525)
2003
29
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. (11555635)
2001
30
Holt-Oram syndrome vs heart-hand syndrome. (10801768)
2000
31
TBX5 mutation in Chinese patients with Holt-Oram syndrome]. (10932003)
2000
32
Holt-Oram syndrome. (9771325)
1998
33
Radial club hand and Holt-Oram syndrome. (7502621)
1995
34
A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. (8054983)
1994
35
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) (8114858)
1994
36
The Holt-Oram syndrome. (1870097)
1991
37
Unusual cardiac malformations in Holt-Oram syndrome: report of two cases. (2063682)
1991
38
Holt-Oram syndrome. (1895500)
1991
39
Holt-Oram syndrome associated with the hypoplastic left heart syndrome. (2766565)
1989
40
Variability of the Holt-Oram syndrome in Saudi individuals. (3400729)
1988
41
Holt-Oram syndrome. (3100237)
1986
42
The antenatal ultrasonographic detection of the Holt-Oram syndrome. (3898414)
1985
43
An unusual case of Holt-Oram syndrome. (6519847)
1984
44
Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). (6335371)
1984
45
Holt-Oram syndrome. (4699901)
1973
46
The upper limb-cardiovascular syndrome (Holt-Oram syndrome). A survey and a report of four cases. (4761183)
1973
47
Holt-Oram syndrome (case report). (4659159)
1972
48
Holt-Oram syndrome. Surgical implications. (5011288)
1972
49
Holt-Oram syndrome. (6040337)
1967
50
Holt-Oram syndrome (Upper limb cardiovascular syndrome). (5917980)
1966

Variations for Holt-Oram Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1TBX5p.Arg237GlnVAR_007456rs104894378
2TBX5p.Gly80ArgVAR_009701rs104894381
3TBX5p.Arg237TrpVAR_009702rs104894382
4TBX5p.Gln49LysVAR_015381rs104894383
5TBX5p.Ile54ThrVAR_015382rs104894384

Clinvar genetic disease variations for Holt-Oram Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBX5TBX5, 1491C-Tsingle nucleotide variantPathogenic
2TBX5NM_000192.3(TBX5): c.205G> T (p.Glu69Ter)single nucleotide variantPathogenicrs104894377GRCh37Chr 12, 114839668: 114839668
3TBX5NM_000192.3(TBX5): c.710G> A (p.Arg237Gln)single nucleotide variantLikely pathogenic, Pathogenicrs104894378GRCh37Chr 12, 114823326: 114823326
4TBX5NM_000192.3(TBX5): c.238G> A (p.Gly80Arg)single nucleotide variantPathogenicrs104894381GRCh37Chr 12, 114839635: 114839635
5TBX5NM_000192.3(TBX5): c.709C> T (p.Arg237Trp)single nucleotide variantPathogenicrs104894382GRCh37Chr 12, 114823327: 114823327
6TBX5TBX5, 1-BP DEL, 416CdeletionPathogenic
7TBX5NM_000192.3(TBX5): c.145C> A (p.Gln49Lys)single nucleotide variantPathogenicrs104894383GRCh37Chr 12, 114841559: 114841559
8TBX5NM_000192.3(TBX5): c.161T> C (p.Ile54Thr)single nucleotide variantPathogenicrs104894384GRCh37Chr 12, 114839712: 114839712
9TBX5NM_000192.3(TBX5): c.408C> A (p.Tyr136Ter)single nucleotide variantPathogenicrs104894379GRCh37Chr 12, 114836480: 114836480

Expression for genes affiliated with Holt-Oram Syndrome

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

Pathways for genes affiliated with Holt-Oram Syndrome

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GO Terms for genes affiliated with Holt-Oram Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.8EP300, NKX2-5, SALL4, SRSF2, TBX1, TBX3

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:003513610.4TBX3, TBX5
2bundle of His developmentGO:000316610.4NKX2-5, TBX5
3positive regulation of cardioblast differentiationGO:005189110.4NKX2-5, TBX5
4embryonic forelimb morphogenesisGO:003511510.3TBX3, TBX5
5ventricular septum morphogenesisGO:006041210.2NKX2-5, TBX3
6sarcomere organizationGO:004521410.2MYH6, NKX2-5
7atrial septum morphogenesisGO:006041310.2NKX2-5, TBX5
8pharyngeal system developmentGO:006003710.2NKX2-5, TBX1
9adult heart developmentGO:000751210.2MYH6, NKX2-5
10embryonic heart tube developmentGO:003505010.2NKX2-5, TBX3
11outflow tract septum morphogenesisGO:000314810.1NKX2-5, TBX1
12thyroid gland developmentGO:003087810.1NKX2-5, TBX1
13heart loopingGO:000194710.1NKX2-5, TBX3
14cardiac muscle contractionGO:006004810.0MYH6, NKX2-5
15pattern specification processGO:000738910.0TBX1, TBX5
16blood vessel developmentGO:000156810.0TBX1, TBX3
17BMP signaling pathwayGO:00305099.9MYH6, NKX2-5
18cardiac muscle cell differentiationGO:00550079.9NKX2-5, TBX3, TBX5
19cellular response to retinoic acidGO:00713009.9EP300, TBX1
20ventricular septum developmentGO:00032819.9SALL4, TBX5
21embryonic limb morphogenesisGO:00303269.8SALL4, TBX5
22outflow tract morphogenesisGO:00031519.6NKX2-5, TBX1, TBX3
23in utero embryonic developmentGO:00017019.6MYH6, SALL4, TBX3
24heart morphogenesisGO:00030079.6NKX2-5, TBX1, TBX3
25stem cell population maintenanceGO:00198279.5SALL4, TBX3
26positive regulation of transcription, DNA-templatedGO:00458938.6EP300, NKX2-5, TBX1, TBX3, TBX5
27negative regulation of transcription from RNA polymerase II promoterGO:00001228.2EP300, NKX2-5, SALL4, TBX3
28heart developmentGO:00075078.1EP300, NKX2-5, SALL4, TBX1, TBX5
29positive regulation of transcription from RNA polymerase II promoterGO:00459448.0EP300, NKX2-5, SALL4, TBX1, TBX5

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:000110210.0EP300, TBX3
2RNA polymerase II transcription factor bindingGO:000108510.0EP300, TBX3
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.4EP300, NKX2-5, TBX3
4transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.4EP300, NKX2-5, TBX5
5transcription factor bindingGO:00081348.9EP300, NKX2-5, TBX5
6transcription factor activity, sequence-specific DNA bindingGO:00037008.2NKX2-5, SALL4, TBX1, TBX3, TBX5
7sequence-specific DNA bindingGO:00435658.2NKX2-5, SALL4, TBX1, TBX3, TBX5

Sources for Holt-Oram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet