HOS
MCID: HLT001
MIFTS: 61

Holt-Oram Syndrome (HOS) malady

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

Aliases & Classifications for Holt-Oram Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 52 11 23 48 25 54 70 27 12 50 39 13 68
Hos 48 25 54 70
Atriodigital Dysplasia 11 48 25
Heart-Hand Syndrome, Type 1 48 25
Ventriculo-Radial Syndrome 48 25
Atrio-Digital Syndrome 11 25
Cardiac-Limb Syndrome 48 25
 
Heart-Hand Syndrome 11 48
Atriodigital Dysplasia Type 1 54
Heart-Hand Syndrome Type 1 54
Atrio Digital Syndrome 48
Holt Oram Syndrome 50
Hearthand Syndrome 23
Hos 1 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
holt-oram syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM52 142900
Disease Ontology11 DOID:0060468
ICD1030 Q87.2
MeSH39 C535326
Orphanet54 ORPHA392
SNOMED-CT62 19092004, 205814003
ICD10 via Orphanet31 Q87.2
MESH via Orphanet40 C535326
UMLS via Orphanet69 C0265264
MedGen37 C0265264

Summaries for Holt-Oram Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box 5), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. 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.

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

UniProtKB/Swiss-Prot:70 Holt-Oram syndrome: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Description from OMIM:52 142900

GeneReviews 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 syndrome12.2
2sall4-related holt-oram syndrome12.2
3duane-radial ray syndrome11.2
4heart-hand syndrome, slovenian type10.9
5heart-hand syndrome, spanish type10.9
6tabatznik syndrome10.9
7atrial fibrillation10.3
8polydactyly10.3
9adamts10-related weill-marchesani syndrome10.2SALL4, TBX5
10myasthenia gravis congenital10.2TBX3, TBX5
11syndactyly, type iv10.2TBX3, TBX5
12tetralogy of fallot10.2
13hypoplastic left heart syndrome10.2
14heart disease10.2
15ventricular septal defect10.2
16optic nerve disease10.1MYH6, NKX2-5, TBX5
17narrow oral fissure short stature cone shaped epiphyses10.1MYH6, MYH7
18pseudohypoparathyroidism ia10.1SALL4, TBX3, TBX5
19joubert syndrome 1310.1TBX1, TBX3, TBX5
20dentine erosion10.1MYH6, NKX2-5, TBX5
21ichthyosis10.1NKX2-5, TBX1, TBX5
22childhood ataxia with central nervous system hypomyelination/vanishing white matter10.1MYH6, MYH7
23rheumatic heart disease10.1MYH6, SHOX2, TBX3
24squamous cell papilloma10.1MYH6, SHOX2, TBX3
25stuttering, familial persistent, 410.0SALL4, SHOX2
26malignant pineal area germ cell neoplasm10.0MYH7, NKX2-5, TBX5
27neuropathy, hereditary sensory and autonomic, type vi10.0EP300, NKX2-5, TBX5
28pheochromocytoma10.0
29prostate cancer10.0
30monilethrix10.0
31duodenal atresia10.0
32lung agenesis10.0
33pulmonary hypertension10.0
34osteonecrosis10.0
35microcephaly10.0
36myopia10.0
37patent ductus arteriosus10.0
38prostatitis10.0
39cerebritis10.0
40malignant hyperthermia10.0
41duodenitis10.0
42lymphosarcoma10.0
43aortic coarctation10.0
44aortopulmonary window10.0
45acro-renal-ocular syndrome10.0
46syncope10.0
47macroglossia10.0MYH7, NKX2-5
48ceroid lipofuscinosis, neuronal, 810.0NKX2-5, TBX1, TBX5
49pericardium disease9.9MYH7, NKX2-5
50xanthogranulomatous pyelonephritis9.8MYH6, MYH7, 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

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Symptoms by clinical synopsis from OMIM:

142900

Clinical features from OMIM:

142900

Human phenotypes related to Holt-Oram Syndrome:

 54 64 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum64 54 Occasional (29-5%) HP:0000767
2 abnormality of the ribs64 54 Occasional (29-5%) HP:0000772
3 sprengel anomaly64 54 Occasional (29-5%) HP:0000912
4 abnormality of the metacarpal bones64 54 Frequent (79-30%) HP:0001163
5 triphalangeal thumb64 54 Frequent (79-30%) HP:0001199
6 ventricular septal defect64 54 Frequent (79-30%) HP:0001629
7 atria septal defect54 Frequent (79-30%)
8 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
9 atrioventricular block54 Frequent (79-30%)
10 abnormality of the aorta64 54 Occasional (29-5%) HP:0001679
11 scoliosis64 54 Occasional (29-5%) HP:0002650
12 radioulnar synostosis64 54 Occasional (29-5%) HP:0002974
13 abnormality of the humerus64 54 Occasional (29-5%) HP:0003063
14 hypoplastic left heart64 54 Occasional (29-5%) HP:0004383
15 paroxysmal atrial fibrillation64 54 Frequent (79-30%) HP:0004757
16 finger syndactyly64 54 Occasional (29-5%) HP:0006101
17 aplasia/hypoplasia of the radius64 54 Frequent (79-30%) HP:0006501
18 atrioventricular canal defect64 54 Occasional (29-5%) HP:0006695
19 absent thumb64 54 Frequent (79-30%) HP:0009777
20 phocomelia64 54 Occasional (29-5%) HP:0009829
21 anomalous pulmonary venous return64 54 Occasional (29-5%) HP:0010772
22 broad thumb64 54 Occasional (29-5%) HP:0011304
23 first degree atrioventricular block64 54 Frequent (79-30%) HP:0011705
24 down-sloping shoulders64 54 Occasional (29-5%) HP:0200021
25 abnormality of the sternum64 HP:0000766
26 abnormality of the carpal bones64 HP:0001191
27 atrial septal defect64 HP:0001631
28 thoracic scoliosis64 HP:0002943
29 hypoplasia of the radius64 HP:0002984
30 abnormality of the vertebrae64 HP:0003468
31 aplasia of the pectoralis major muscle64 HP:0009751
32 partial duplication of thumb phalanx64 HP:0009944

MGI Mouse Phenotypes related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1SALL4, SHOX2, TBX1, TBX3, TBX5, TGFB2
2MP:00053828.3EP300, NKX2-5, SALL4, SHOX2, TBX1, TBX3
3MP:00053818.3EP300, NKX2-5, SALL4, SHOX2, TBX1, TBX3
4MP:00053808.0EP300, KAT2B, NKX2-5, SALL4, TBX1, TBX3
5MP:00053787.4EP300, KAT2B, NKX2-5, SALL4, SHOX2, TBX1
6MP:00053696.6EP300, MYH6, MYH7, NKX2-5, SRSF2, TBX1
7MP:00053856.6EP300, MYH6, MYH7, NKX2-5, SALL4, SHOX2
8MP:00107686.6EP300, KAT2B, MYH6, NKX2-5, SALL4, SHOX2

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 2175123214-92-831703
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 2175131703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
3Topoisomerase InhibitorsPhase 25069
4Antibiotics, AntitubercularPhase 27180
5Anti-Bacterial AgentsPhase 211226

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Doxil in the Treatment of Patients With Refractory Idiopathic Thrombocytopenic PurpuraUnknown statusNCT00107913Phase 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 Syndrome27

Anatomical Context for Holt-Oram Syndrome

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MalaCards organs/tissues related to Holt-Oram Syndrome:

36
Heart, Bone, Lung, Testes, Prostate

FMA organs/tissues related to Holt-Oram Syndrome:

17
Heart, Upper limb

Publications for Holt-Oram Syndrome

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Articles related to Holt-Oram Syndrome:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Holt-Oram syndrome: Anesthetic challenges and safe outcome. (28074809)
2017
2
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5. (28164238)
2017
3
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. (27495810)
2016
4
Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association. (27293527)
2016
5
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research. (26990964)
2016
6
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. (27695215)
2016
7
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. (27090505)
2016
8
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. (27958623)
2016
9
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. (27035640)
2016
10
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. (27026770)
2016
11
Left Ventricular Non-compaction in Holt-Oram Syndrome. (26874791)
2016
12
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
13
Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C. (27552067)
2016
14
Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. (27471727)
2016
15
Holt Oram syndrome: a case report and review of the literature. (27048037)
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
Horseshoe Lung Associated With Holt-Oram Syndrome. (26195995)
2015
18
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome. (26219450)
2015
19
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. (25903110)
2015
20
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
21
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
22
Defining Features of the Upper Extremity in Holt-Oram Syndrome. (26243320)
2015
23
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. (26780237)
2015
24
MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. (26657204)
2015
25
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. (25216260)
2014
26
Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision. (25886110)
2014
27
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. (25274398)
2014
28
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. (24664498)
2014
29
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. (24879328)
2014
30
Holt-Oram syndrome. (24656395)
2014
31
Holt-Oram syndrome: a case report. (25455949)
2014
32
A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis. (24408148)
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 implications in Holt-Oram Syndrome. (23545878)
2013
36
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. (24185902)
2013
37
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation. (23984174)
2013
38
Holt-oram syndrome associated with double outlet right ventricle: A rare association. (23626447)
2013
39
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
40
Holt-Oram syndrome with aortopulmonary window - a rare association. (24124729)
2013
41
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. (22333898)
2012
42
Unusual combination of holt-oram syndrome and persistent left superior vena cava. (22129221)
2012
43
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
44
Rare cardiac defect in Holt-Oram syndrome. (22447508)
2012
45
Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery. (21272410)
2011
46
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene. (22190901)
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
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. (20519243)
2010
50
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome. (21547188)
2010

Variations for Holt-Oram Syndrome

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

70
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 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TBX5NM_ 000192.3(TBX5): c.105delC (p.Ser36Alafs)deletionPathogenicrs1057516042GRCh38Chr 12, 114403794: 114403794
2TBX5TBX5, 48-KB DUP, EX2-9DUPduplicationPathogenic
3TGFB2NM_ 003238.4(TGFB2): c.252dupG (p.Arg85Glufs)duplicationPathogenicGRCh38Chr 1, 218346953: 218346953
4TBX5TBX5, 1491C-TSNVPathogenic
5TBX5NM_ 000192.3(TBX5): c.205G> T (p.Glu69Ter)SNVPathogenicrs104894377GRCh37Chr 12, 114839668: 114839668
6TBX5NM_ 000192.3(TBX5): c.710G> A (p.Arg237Gln)SNVPathogenic/ Likely pathogenicrs104894378GRCh37Chr 12, 114823326: 114823326
7TBX5NM_ 000192.3(TBX5): c.238G> A (p.Gly80Arg)SNVPathogenicrs104894381GRCh37Chr 12, 114839635: 114839635
8TBX5NM_ 000192.3(TBX5): c.709C> T (p.Arg237Trp)SNVPathogenicrs104894382GRCh37Chr 12, 114823327: 114823327
9TBX5TBX5, 1-BP DEL, 416CdeletionPathogenic
10TBX5NM_ 000192.3(TBX5): c.145C> A (p.Gln49Lys)SNVPathogenicrs104894383GRCh37Chr 12, 114841559: 114841559
11TBX5NM_ 000192.3(TBX5): c.161T> C (p.Ile54Thr)SNVPathogenicrs104894384GRCh37Chr 12, 114839712: 114839712
12TBX5NM_ 000192.3(TBX5): c.408C> A (p.Tyr136Ter)SNVPathogenicrs104894379GRCh37Chr 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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Pathways related to Holt-Oram Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.6NKX2-5, TBX5, TGFB2
29.5MYH6, NKX2-5, TBX5
39.5MYH7, NKX2-5
49.5NKX2-5, TBX1, TBX5
5
Show member pathways
9.2MYH6, MYH7, TGFB2
6
Show member pathways
9.0KAT2B, MYH6, NKX2-5, TBX5
7
Show member pathways
9.0MYH7, NKX2-5, TBX5, TGFB2
88.8EP300, KAT2B, TGFB2
98.8EP300, KAT2B, MYH6
108.8EP300, KAT2B, NKX2-5
11
Show member pathways
8.5EP300, KAT2B, NKX2-5, TBX5

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
1muscle myosin complexGO:00058599.9MYH6, MYH7
2myosin filamentGO:00329829.5MYH6, MYH7

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

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1atrioventricular valve morphogenesisGO:000318110.7TBX5, TGFB2
2forelimb morphogenesisGO:003513610.7TBX3, TBX5
3bundle of His developmentGO:000316610.7NKX2-5, TBX5
4cardiac muscle cell proliferationGO:006003810.7NKX2-5, TGFB2
5embryonic heart tube developmentGO:003505010.6NKX2-5, TBX3
6positive regulation of heart contractionGO:004582310.6NKX2-5, TGFB2
7face morphogenesisGO:006032510.6TBX1, TGFB2
8pharyngeal system developmentGO:006003710.5NKX2-5, TBX1
9atrial septum morphogenesisGO:006041310.4NKX2-5, TBX5, TGFB2
10cardiac muscle cell differentiationGO:005500710.4NKX2-5, TBX3, TBX5
11positive regulation of cardioblast differentiationGO:005189110.4NKX2-5, TBX5, TGFB2
12ATP metabolic processGO:004603410.3MYH6, MYH7
13cardiac muscle hypertrophy in response to stressGO:001489810.3MYH6, MYH7
14muscle tissue morphogenesisGO:006041510.3SHOX2, TBX1
15BMP signaling pathwayGO:003050910.3MYH6, NKX2-5, TGFB2
16positive regulation of mesenchymal cell proliferationGO:000205310.3SHOX2, TBX1
17blood vessel developmentGO:000156810.3TBX1, TBX3, TGFB2
18regulation of heart rateGO:000202710.3MYH6, MYH7
19regulation of the force of heart contractionGO:000202610.3MYH6, MYH7
20in utero embryonic developmentGO:000170110.3MYH6, SALL4, TBX3
21ventricular septum developmentGO:000328110.3SALL4, TBX5
22thyroid gland developmentGO:003087810.2NKX2-5, TBX1
23outflow tract septum morphogenesisGO:000314810.2NKX2-5, TBX1, TGFB2
24outflow tract morphogenesisGO:000315110.2NKX2-5, TBX1, TBX3
25embryonic forelimb morphogenesisGO:003511510.2SHOX2, TBX3, TBX5
26striated muscle contractionGO:000694110.1MYH6, MYH7
27ventricular cardiac muscle tissue morphogenesisGO:005501010.0MYH6, MYH7
28adult heart developmentGO:000751210.0MYH6, MYH7, NKX2-5
29cardiac muscle contractionGO:006004810.0MYH6, MYH7, NKX2-5
30heart morphogenesisGO:00030079.9NKX2-5, TBX1, TBX3, TGFB2
31internal peptidyl-lysine acetylationGO:00183939.9EP300, KAT2B
32skeletal system developmentGO:00015019.9SHOX2, TBX3, TGFB2
33N-terminal peptidyl-lysine acetylationGO:00180769.9EP300, KAT2B
34positive regulation of cell proliferationGO:00082849.9NKX2-5, TBX1, TBX3, TGFB2
35protein acetylationGO:00064739.9EP300, KAT2B
36ventricular septum morphogenesisGO:00604129.9NKX2-5, TBX3, TGFB2
37ventricular trabecula myocardium morphogenesisGO:00032229.8NKX2-5, TGFB2
38embryonic limb morphogenesisGO:00303269.8SALL4, SHOX2, TBX5, TGFB2
39multicellular organism developmentGO:00072759.4NKX2-5, SHOX2, TBX1, TBX3, TBX5
40negative regulation of transcription from RNA polymerase II promoterGO:00001228.9EP300, NKX2-5, SALL4, SHOX2, TBX3
41positive regulation of transcription, DNA-templatedGO:00458938.6EP300, KAT2B, NKX2-5, TBX1, TBX3, TBX5
42heart developmentGO:00075078.3EP300, NKX2-5, SALL4, SHOX2, TBX1, TBX5
43positive regulation of transcription from RNA polymerase II promoterGO:00459448.0EP300, KAT2B, NKX2-5, SALL4, SHOX2, TBX1
44regulation of transcription, DNA-templatedGO:00063557.5EP300, KAT2B, NKX2-5, SALL4, SHOX2, TBX1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:003089810.3MYH6, MYH7
2microfilament motor activityGO:000014610.3MYH6, MYH7
3acetyltransferase activityGO:00164079.9EP300, KAT2B
4lysine N-acetyltransferase activity, acting on acetyl phosphate as donorGO:00044689.9EP300, KAT2B
5transcription factor activity, sequence-specific DNA bindingGO:00037009.4NKX2-5, SALL4, TBX1, TBX3, TBX5
6transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.0EP300, NKX2-5, TBX5
7sequence-specific DNA bindingGO:00435659.0NKX2-5, SALL4, SHOX2, TBX1, TBX3, TBX5
8transcription factor bindingGO:00081348.7EP300, KAT2B, NKX2-5, SALL4, TBX5
9DNA bindingGO:00036778.2EP300, NKX2-5, SALL4, SHOX2, TBX1, TBX3

Sources for Holt-Oram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
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67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet