MCID: HLT001
MIFTS: 58

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:
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 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 Cardiac Progenitor Differentiation and Heart Development. Affiliated tissues include heart, upper limb and heart, and related mouse phenotypes are Decreased Aire reporter expression and embryo.

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

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.

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

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 54)
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
9knobloch syndrome10.3TBX3, TBX5
10polydactyly, preaxial type ii10.3TBX3, TBX5
11acta1-related nemaline myopathy10.2SALL4, TBX5
12keratosis follicularis, dwarfism, and cerebral atrophy10.2TBX3, TBX5
13pseudohypoparathyroidism ia10.2SALL4, TBX5
14tetralogy of fallot10.2
15hypoplastic left heart syndrome10.2
16heart disease10.2
17ventricular septal defect10.2
18tricuspid valve disease10.2MYH6, TBX3
19fetal alcohol syndrome10.1NKX2-5, TBX5
20colonic disease10.1NKX2-5, SALL4
21second-degree atrioventricular block10.1NKX2-5, TBX5
22focal epithelial hyperplasia10.1NKX2-5, SALL4
23bird fancier's lung10.1MYH6, TBX3
24pheochromocytoma10.0
25prostate cancer10.0
26monilethrix10.0
27duodenal atresia10.0
28lung agenesis10.0
29pulmonary hypertension10.0
30osteonecrosis10.0
31microcephaly10.0
32myopia10.0
33patent ductus arteriosus10.0
34prostatitis10.0
35cerebritis10.0
36malignant hyperthermia10.0
37duodenitis10.0
38lymphosarcoma10.0
39aortic coarctation10.0
40aortopulmonary window10.0
41acro-renal-ocular syndrome10.0
42syncope10.0
43viral hepatitis10.0MYH6, NKX2-5, TBX5
44photokeratitis10.0MYH6, NKX2-5, TBX5
45melanotic neuroectodermal tumor9.9NKX2-5, SALL4, TBX5
46allergic rhinitis9.7
47oligodendroglioma9.7
48rhinitis9.7
49neovascular glaucoma9.7NKX2-5, TBX1, TBX5
50neuroendocrine tumor9.6NKX2-5, 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:

 64 54 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the wrist64 hallmark (90%) HP:0003019
2 abnormality of the metacarpal bones64 54 typical (50%) Frequent (79-30%) HP:0001163
3 triphalangeal thumb64 54 typical (50%) Frequent (79-30%) HP:0001199
4 ventricular septal defect64 54 typical (50%) Frequent (79-30%) HP:0001629
5 atria septal defect64 typical (50%) HP:0001631
6 aplasia/hypoplasia of the radius64 54 typical (50%) Frequent (79-30%) HP:0006501
7 aplasia/hypoplasia of the thumb64 typical (50%) HP:0009601
8 arrhythmia64 typical (50%) HP:0011675
9 hypoplasia of the radius64 37.8049% HP:0002984
10 phocomelia64 54 10.9756% Occasional (29-5%) HP:0009829
11 abnormality of the sternum64 occasional (7.5%) HP:0000766
12 pectus excavatum64 54 occasional (7.5%) Occasional (29-5%) HP:0000767
13 abnormality of the ribs64 54 occasional (7.5%) Occasional (29-5%) HP:0000772
14 sprengel anomaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000912
15 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
16 complete atrioventricular canal defect64 occasional (7.5%) HP:0001674
17 abnormality of the aorta64 54 occasional (7.5%) Occasional (29-5%) HP:0001679
18 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
19 thoracic scoliosis64 occasional (7.5%) HP:0002943
20 radioulnar synostosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002974
21 abnormality of the shoulder64 occasional (7.5%) HP:0003043
22 abnormality of the humerus64 54 occasional (7.5%) Occasional (29-5%) HP:0003063
23 hypoplastic left heart64 54 occasional (7.5%) Occasional (29-5%) HP:0004383
24 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
25 aplasia of the pectoralis major muscle64 occasional (7.5%) HP:0009751
26 anomalous pulmonary venous return64 54 occasional (7.5%) Occasional (29-5%) HP:0010772
27 abnormality of the carpal bones64 HP:0001191
28 abnormality of the vertebrae64 HP:0003468
29 absent thumb64 54 Frequent (79-30%) HP:0009777
30 partial duplication of thumb phalanx64 HP:0009944
31 defect in the atrial septum54 Frequent (79-30%)
32 atrioventricular block54 Frequent (79-30%)
33 paroxysmal atrial fibrillation54 Frequent (79-30%)
34 atrioventricular canal defect54 Occasional (29-5%)
35 broad thumb54 Occasional (29-5%)
36 first degree atrioventricular block54 Frequent (79-30%)
37 down-sloping shoulders54 Occasional (29-5%)

UMLS symptoms related to Holt-Oram Syndrome:


cardiac dyskinesia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00304-A10.0NKX2-5, SALL4, TBX3

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.0NKX2-5, SALL4, TBX1, TBX3, TBX5
2MP:00053718.9SALL4, SHOX2, TBX1, TBX3, TBX5
3MP:00053828.8NKX2-5, SALL4, SHOX2, TBX1, TBX3
4MP:00053788.5NKX2-5, SALL4, SHOX2, TBX1, TBX3, TBX5
5MP:00053698.2MYH6, NKX2-5, SRSF2, TBX1, TBX3, TBX5
6MP:00053908.1SALL4, SHOX2, TBX1, TBX3, TBX5
7MP:00053857.2MYH6, NKX2-5, SALL4, SHOX2, SRSF2, TBX1
8MP:00107687.2MYH6, NKX2-5, SALL4, SHOX2, SRSF2, TBX1

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 2171423214-92-831703
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 2171431703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
3Topoisomerase InhibitorsPhase 24945
4Antibiotics, AntitubercularPhase 26972
5Anti-Bacterial AgentsPhase 210884

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 201)
idTitleAuthorsYear
1
Holt-Oram syndrome: Anesthetic challenges and safe outcome. (28074809)
2017
2
Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. (27471727)
2016
3
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. (27652283)
2016
4
A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome. (27090505)
2016
5
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. (27695215)
2016
6
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. (27026770)
2016
7
Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C. (27552067)
2016
8
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. (27035640)
2016
9
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research. (26990964)
2016
10
Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction. (26882979)
2016
11
Left Ventricular Non-compaction in Holt-Oram Syndrome. (26874791)
2016
12
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis. (27958623)
2016
13
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report. (27495810)
2016
14
Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association. (27293527)
2016
15
Holt Oram syndrome: a case report and review of the literature. (27048037)
2016
16
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
17
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. (25903110)
2015
18
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
19
Horseshoe Lung Associated With Holt-Oram Syndrome. (26195995)
2015
20
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. (26780237)
2015
21
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome. (26219450)
2015
22
Defining Features of the Upper Extremity in Holt-Oram Syndrome. (26243320)
2015
23
MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. (26657204)
2015
24
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. (24826304)
2014
25
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. (25274398)
2014
26
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. (24879328)
2014
27
Holt Oram syndrome: a registry-based study in Europe. (25344219)
2014
28
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. (24664498)
2014
29
Holt-Oram syndrome: a case report. (25455949)
2014
30
A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis. (24408148)
2014
31
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. (25216260)
2014
32
Holt-Oram syndrome. (24656395)
2014
33
Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision. (25886110)
2014
34
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. (24185902)
2013
35
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
36
Holt-Oram syndrome with aortopulmonary window - a rare association. (24124729)
2013
37
Anesthetic implications in Holt-Oram Syndrome. (23545878)
2013
38
Holt-oram syndrome associated with double outlet right ventricle: A rare association. (23626447)
2013
39
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation. (23984174)
2013
40
Unusual combination of holt-oram syndrome and persistent left superior vena cava. (22129221)
2012
41
Rare cardiac defect in Holt-Oram syndrome. (22447508)
2012
42
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
43
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. (22333898)
2012
44
Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. (21752519)
2011
45
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene. (22190901)
2011
46
Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery. (21272410)
2011
47
A case report on holt-oram syndrome (heart-hand). (22577452)
2011
48
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome. (21547188)
2010
49
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. (21637475)
2010
50
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. (20519243)
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
id Gene Variation Type Significance SNP ID Assembly Location
1TBX5NM_000192.3(TBX5): c.105delC (p.Ser36Alafs)deletionPathogenicGRCh38Chr 12, 114403794: 114403794
2TBX5TBX5, 1491C-TSNVPathogenicChr na, -1: -1
3TBX5NM_000192.3(TBX5): c.205G> T (p.Glu69Ter)SNVPathogenicrs104894377GRCh37Chr 12, 114839668: 114839668
4TBX5NM_000192.3(TBX5): c.710G> A (p.Arg237Gln)SNVLikely pathogenic, Pathogenicrs104894378GRCh37Chr 12, 114823326: 114823326
5TBX5NM_000192.3(TBX5): c.238G> A (p.Gly80Arg)SNVPathogenicrs104894381GRCh37Chr 12, 114839635: 114839635
6TBX5NM_000192.3(TBX5): c.709C> T (p.Arg237Trp)SNVPathogenicrs104894382GRCh37Chr 12, 114823327: 114823327
7TBX5TBX5, 1-BP DEL, 416CdeletionPathogenicChr na, -1: -1
8TBX5NM_000192.3(TBX5): c.145C> A (p.Gln49Lys)SNVPathogenicrs104894383GRCh37Chr 12, 114841559: 114841559
9TBX5NM_000192.3(TBX5): c.161T> C (p.Ile54Thr)SNVPathogenicrs104894384GRCh37Chr 12, 114839712: 114839712
10TBX5NM_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:

idSuper pathwaysScoreTop Affiliating Genes
19.3MYH6, NKX2-5, TBX5
29.1NKX2-5, TBX1, 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
1nucleusGO:00056346.8NKX2-5, SALL4, SHOX2, SRSF2, TBX1, TBX3

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:003513610.5TBX3, TBX5
2atrial septum morphogenesisGO:006041310.4NKX2-5, TBX5
3bundle of His developmentGO:000316610.4NKX2-5, TBX5
4embryonic heart tube developmentGO:003505010.4NKX2-5, TBX3
5positive regulation of cardioblast differentiationGO:005189110.4NKX2-5, TBX5
6heart loopingGO:000194710.4NKX2-5, TBX3
7adult heart developmentGO:000751210.4MYH6, NKX2-5
8BMP signaling pathwayGO:003050910.4MYH6, NKX2-5
9canonical Wnt signaling pathwayGO:006007010.4MYH6, NKX2-5
10cardiac muscle contractionGO:006004810.4MYH6, NKX2-5
11blood vessel developmentGO:000156810.3TBX1, TBX3
12pattern specification processGO:000738910.2TBX1, TBX5
13sarcomere organizationGO:004521410.2MYH6, NKX2-5
14outflow tract septum morphogenesisGO:000314810.1NKX2-5, TBX1
15pharyngeal system developmentGO:006003710.1NKX2-5, TBX1
16stem cell population maintenanceGO:001982710.1SALL4, TBX3
17muscle tissue morphogenesisGO:006041510.1SHOX2, TBX1
18cardiac muscle cell differentiationGO:005500710.1NKX2-5, TBX3, TBX5
19positive regulation of mesenchymal cell proliferationGO:000205310.1SHOX2, TBX1
20ventricular septum developmentGO:000328110.0SALL4, TBX5
21embryonic forelimb morphogenesisGO:003511510.0SHOX2, TBX3, TBX5
22in utero embryonic developmentGO:00017019.9MYH6, SALL4, TBX3
23thyroid gland developmentGO:00308789.9NKX2-5, TBX1
24embryonic limb morphogenesisGO:00303269.9SALL4, SHOX2, TBX5
25heart morphogenesisGO:00030079.8NKX2-5, TBX1, TBX3
26outflow tract morphogenesisGO:00031519.8NKX2-5, TBX1, TBX3
27ventricular septum morphogenesisGO:00604129.6NKX2-5, TBX3
28negative regulation of transcription from RNA polymerase II promoterGO:00001229.3NKX2-5, SALL4, SHOX2, TBX3
29positive regulation of transcription, DNA-templatedGO:00458939.3NKX2-5, TBX1, TBX3, TBX5
30heart developmentGO:00075078.8NKX2-5, SALL4, SHOX2, TBX1, TBX5
31positive regulation of transcription from RNA polymerase II promoterGO:00459448.7NKX2-5, SALL4, SHOX2, TBX1, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435658.3NKX2-5, SALL4, SHOX2, TBX1, TBX3, TBX5
2transcription factor activity, sequence-specific DNA bindingGO:00037008.2NKX2-5, SALL4, TBX1, TBX3, TBX5

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
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet