MCID: HLT001
MIFTS: 58

Holt-Oram Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Holt-Oram Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 49 11 21 45 23 47 51 65 67
Hos 45 23 51 67
Heart-Hand Syndrome, Type 1 45 23
Ventriculo-Radial Syndrome 45 23
Atriodigital Dysplasia 45 23
Cardiac-Limb Syndrome 45 23
Holt Oram Syndrome 47 24
 
Atriodigital Dysplasia Type 1 51
Heart-Hand Syndrome Type 1 51
Atrio Digital Syndrome 45
Atrio-Digital Syndrome 23
Heart-Hand Syndrome 45
Hearthand Syndrome 21
Hos 1 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
holt-oram syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Hungary); Age of onset: Neonatal; Age of death: any age


External Ids:

OMIM49 142900
Orphanet51 392
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 C535326
UMLS via Orphanet66 C0265264
MedGen34 C0265264

Summaries for Holt-Oram Syndrome

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NIH Rare Diseases:45 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 tetralogy of fallot and myopia, 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 Cardiomyocyte Differentiation through BMP Receptors and Cardiac Progenitor Differentiation. Affiliated tissues include heart, bone and lung, and related mouse phenotypes are craniofacial and muscle.

Genetics Home Reference:23 Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

UniProtKB/Swiss-Prot:67 Holt-Oram syndrome: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Description from OMIM:49 142900

GeneReviews summary for hos

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 63)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot30.7NKX2-5, TBX1, TBX5
2myopia30.7MYH6, MYH7
3polydactyly10.7
4atrial fibrillation10.6
5tbx5-related holt-oram syndrome10.6
6sall4-related holt-oram syndrome10.6
7heart-hand syndrome, slovenian type10.5
8hypoplastic left heart syndrome10.5
9congenital heart disease10.5
10ventricular septal defect10.5
11pheochromocytoma10.4
12prostate cancer10.4
13monilethrix10.4
14duane-radial ray syndrome10.4
15pulmonary hypertension10.4
16osteonecrosis10.4
17patent ductus arteriosus10.4
18malignant hyperthermia10.4
19lymphosarcoma10.4
20cerebritis10.4
21prostatitis10.4
22aortic coarctation10.4
23aortopulmonary window10.4
24lung agenesis10.4
25acro-renal-ocular syndrome10.4
26syncope10.4
27multiple ventricular septal defects10.4
28heart-hand syndrome,spanish type10.3
29muscle eye brain disease10.2TBX3, TBX5
30tabatznik syndrome10.2
31heart-hand syndrome type 310.2
32acta1-related congenital fiber-type disproportion10.2SALL4, TBX5
33ivic syndrome10.2SALL4, TBX5
34brachydactyly10.2
35endometrial mucinous adenocarcinoma10.2MYH7, NKX2-5
36trigeminal nerve disease10.2MYH7, NKX2-5
37mccallum macadam johnston syndrome10.2TBX3, TBX5
38skin benign neoplasm10.1MYH6, TBX3
39cerebral cavernous malformation, familial10.1MYH6, MYH7
40ovarian endometrioid adenofibroma10.1NKX2-5, SALL4
41dystonia, dopa-responsive, with or without hyperphenylalaninemia10.1MYH6, MYH7
42atrioventricular block10.1MYH6, NKX2-5, TBX5
43organic acidemia10.1MYH6, MYH7
44biliary atresia10.1MYH6, NKX2-5, TBX5
45arteriovenous malformation10.1MYH6, TBX3
46hemolytic disease of the newborn with kell alloimmunization10.1NKX2-5, TBX1
47vesiculobullous skin disease10.1MYH7, NKX2-5, TBX5
48allergic rhinitis10.1
49oligodendroglioma10.1
50rhinitis10.1

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:

 51 (show all 24)
  • wrist/carpal anomalies
  • autosomal dominant inheritance
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • metacarpal anomalies/archibald's sign
  • thumb hypoplasia/aplasia/absence
  • fingerlike/triphalangeal thumb
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • narrow/sloping shoulders
  • pectus excavatum
  • anomalies of the ribs
  • scoliosis
  • phocomelia
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radioulnar synostosis
  • syndactyly of fingers/interdigital palm
  • broad/bifid thumb
  • anomalous pulmonary venous return
  • hypoplastic left heart/ventricle
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • atrioventricular canal
  • patent ductus arteriosus

HPO human phenotypes related to Holt-Oram Syndrome:

(show all 36)
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 autosomal dominant inheritance HP:0000006
31 abnormality of the carpal bones HP:0001191
32 triphalangeal thumb HP:0001199
33 abnormality of the vertebrae HP:0003468
34 hypoplastic left heart HP:0004383
35 absent thumb HP:0009777
36 partial duplication of thumb phalanx HP:0009944

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
Doxorubicinapproved, investigationalPhase 2152523214-92-831703
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
2
DoxilApproved June 1999Phase 2152531703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin

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

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 Syndrome24

Anatomical Context for Holt-Oram Syndrome

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MalaCards organs/tissues related to Holt-Oram Syndrome:

33
Heart, Bone, Lung, Testes, Prostate

Animal Models for Holt-Oram Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Holt-Oram Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8EP300, NKX2-5, SALL4, TBX1, TBX3
2MP:00053697.7EP300, MYH6, NKX2-5, SRSF2, TBX1, TBX3
3MP:00053807.6EP300, KAT2B, NKX2-5, SALL4, TBX1, TBX3
4MP:00053857.0EP300, MYH6, NKX2-5, SALL4, SRSF2, TBX1
5MP:00107686.8EP300, KAT2B, MYH6, NKX2-5, SALL4, SRSF2

Publications for Holt-Oram Syndrome

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Articles related to Holt-Oram Syndrome:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Horseshoe Lung Associated With Holt-Oram Syndrome. (26195995)
2015
2
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. (24826304)
2014
3
A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis. (24408148)
2014
4
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. (24185902)
2013
5
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
6
Anesthetic implications in Holt-Oram Syndrome. (23545878)
2013
7
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
8
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. (22333898)
2012
9
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene. (22190901)
2011
10
Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery. (21272410)
2011
11
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome. (21547188)
2010
12
Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch. (18685167)
2008
13
Picture of the month. Holt-Oram syndrome. (17606836)
2007
14
Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. (17366586)
2007
15
Holt-oram syndrome with hemizygous continuation of inferior vena cava. (16551828)
2006
16
Molecular genetic and ocular findings in patients with holt-oram syndrome. (15823919)
2005
17
Abnormal cardiac inflow patterns during postnatal development in a mouse model of Holt-Oram syndrome. (15849237)
2005
18
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
19
Holt-Oram syndrome with hypoplastic left heart syndrome in an African child. (15505648)
2004
20
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. (12843316)
2003
21
Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome. (12624158)
2003
22
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. (12499378)
2003
23
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. (11572777)
2001
24
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. (11555635)
2001
25
Holt-Oram syndrome vs heart-hand syndrome. (10801768)
2000
26
Holt-Oram syndrome. (9771325)
1998
27
Holt-Oram syndrome. (9843474)
1998
28
Variation in severity of cardiac disease in Holt-Oram syndrome. (8911604)
1996
29
A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. (8054983)
1994
30
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) (8114858)
1994
31
The Holt-Oram syndrome. (1870097)
1991
32
Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report. (2070544)
1991
33
Unusual cardiac malformations in Holt-Oram syndrome: report of two cases. (2063682)
1991
34
Holt-Oram syndrome. (3100237)
1986
35
The antenatal ultrasonographic detection of the Holt-Oram syndrome. (3898414)
1985
36
Holt-Oram syndrome. (480027)
1979
37
Holt-Oram syndrome: an observation in a father and a son. (438692)
1979
38
An operated case of Holt-Oram syndrome with autosomal dominant inheritance. (1259686)
1976
39
J--holt-oram syndrome. (4469991)
1974
40
Association of Holt-Oram syndrome and lymphosarcoma. (4479617)
1974
41
Holt-Oram syndrome. (4699901)
1973
42
The upper limb-cardiovascular syndrome (Holt-Oram syndrome). A survey and a report of four cases. (4761183)
1973
43
Holt-Oram syndrome (case report). (4659159)
1972
44
Holt-Oram syndrome. Surgical implications. (5011288)
1972
45
Holt Oram syndrome associated with carcinoma. (5559104)
1971
46
The Holt-Oram syndrome: the long and the short of it. (5413182)
1970
47
Associated skeletal and cardiac abnormalities: the Holt-Oram syndrome. (5343603)
1969
48
Holt-Oram syndrome. (6040337)
1967
49
The syndrome of familial defects of heart and upper extremities (Holt-Oram syndrome). (5940244)
1966
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:

67
id Symbol AA change Variation ID SNP ID
1TBX5p.Arg237GlnVAR_007456
2TBX5p.Gly80ArgVAR_009701
3TBX5p.Arg237TrpVAR_009702
4TBX5p.Gln49LysVAR_015381
5TBX5p.Ile54ThrVAR_015382

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
1myosin filamentGO:003298210.4MYH6, MYH7
2muscle myosin complexGO:000585910.4MYH6, MYH7
3myofibrilGO:003001610.3MYH6, MYH7
4histone acetyltransferase complexGO:000012310.1EP300, KAT2B
5nucleoplasmGO:00056546.4EP300, HIST1H4A, KAT2B, MYH6, MYH7, SALL4
6nucleusGO:00056346.3EP300, HIST1H4A, KAT2B, NKX2-5, SALL4, SRSF2

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1bundle of His developmentGO:000316610.6NKX2-5, TBX5
2forelimb morphogenesisGO:003513610.6TBX3, TBX5
3embryonic forelimb morphogenesisGO:003511510.5TBX3, TBX5
4positive regulation of secondary heart field cardioblast proliferationGO:007251310.5TBX1, TBX5
5positive regulation of cardioblast differentiationGO:005189110.5NKX2-5, TBX5
6embryonic heart tube developmentGO:003505010.5NKX2-5, TBX3
7ventricular septum morphogenesisGO:006041210.4NKX2-5, TBX3
8outflow tract septum morphogenesisGO:000314810.4NKX2-5, TBX1
9pharyngeal system developmentGO:006003710.4NKX2-5, TBX1
10sarcomere organizationGO:004521410.3MYH6, NKX2-5
11regulation of the force of heart contractionGO:000202610.3MYH6, MYH7
12striated muscle contractionGO:000694110.3MYH6, MYH7
13atrial septum morphogenesisGO:006041310.2NKX2-5, TBX5
14ventricular septum developmentGO:000328110.2SALL4, TBX5
15ventricular cardiac muscle tissue morphogenesisGO:005501010.2MYH6, MYH7
16N-terminal peptidyl-lysine acetylationGO:001807610.2EP300, KAT2B
17protein acetylationGO:000647310.1EP300, KAT2B
18ATP metabolic processGO:004603410.1MYH6, MYH7
19cardiac muscle cell differentiationGO:005500710.1NKX2-5, TBX3, TBX5
20thyroid gland developmentGO:003087810.0NKX2-5, TBX1
21internal peptidyl-lysine acetylationGO:00183939.9EP300, KAT2B
22histone acetylationGO:00165739.9EP300, KAT2B
23in utero embryonic developmentGO:00017019.9MYH6, SALL4, TBX3
24regulation of heart rateGO:00020279.8MYH6, MYH7
25adult heart developmentGO:00075129.8MYH6, MYH7, NKX2-5
26outflow tract morphogenesisGO:00031519.8NKX2-5, TBX1, TBX3
27muscle filament slidingGO:00300499.8MYH6, MYH7
28histone H3 acetylationGO:00439669.7EP300, KAT2B
29heart morphogenesisGO:00030079.7NKX2-5, TBX1, TBX3
30cardiac muscle contractionGO:00600489.3MYH6, MYH7, NKX2-5
31heart developmentGO:00075078.7EP300, NKX2-5, SALL4, TBX1, TBX5
32positive regulation of transcription, DNA-templatedGO:00458938.5EP300, KAT2B, NKX2-5, TBX1, TBX3, TBX5
33positive regulation of transcription from RNA polymerase II promoterGO:00459448.0EP300, KAT2B, NKX2-5, SALL4, TBX1, TBX5
34transcription from RNA polymerase II promoterGO:00063668.0EP300, NKX2-5, SALL4, SRSF2, TBX5
35regulation of transcription, DNA-templatedGO:00063557.6EP300, KAT2B, NKX2-5, SALL4, TBX1, TBX3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:003089810.4MYH6, MYH7
2microfilament motor activityGO:000014610.4MYH6, MYH7
3RNA polymerase II transcription factor bindingGO:000108510.3EP300, TBX3
4lysine N-acetyltransferase activity, acting on acetyl phosphate as donorGO:000446810.2EP300, KAT2B
5RNA polymerase II activating transcription factor bindingGO:000110210.2EP300, TBX3
6acetyltransferase activityGO:001640710.1EP300, KAT2B
7transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.2EP300, NKX2-5, TBX5
8transcription factor bindingGO:00081349.0EP300, KAT2B, NKX2-5, TBX5
9sequence-specific DNA bindingGO:00435658.8NKX2-5, SALL4, TBX1, TBX3, TBX5
10transcription factor activity, sequence-specific DNA bindingGO:00037007.9EP300, NKX2-5, SALL4, TBX1, TBX3, TBX5
11DNA bindingGO:00036777.4EP300, HIST1H4A, NKX2-5, SALL4, TBX1, TBX3

Sources for Holt-Oram Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet