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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 51 11 23 47 25 53 69 26 12 49 38 13 67
Hos 47 25 53 69
Atriodigital Dysplasia 11 47 25
Heart-Hand Syndrome, Type 1 47 25
Ventriculo-Radial Syndrome 47 25
Atrio-Digital Syndrome 11 25
Cardiac-Limb Syndrome 47 25
 
Heart-Hand Syndrome 11 47
Atriodigital Dysplasia Type 1 53
Heart-Hand Syndrome Type 1 53
Atrio Digital Syndrome 47
Holt Oram Syndrome 49
Hearthand Syndrome 23
Hos 1 47

Characteristics:

Orphanet epidemiological data:

53
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:

63
holt-oram syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 142900
Disease Ontology11 DOID:0060468
ICD1029 Q87.2
MeSH38 C535326
Orphanet53 ORPHA392
SNOMED-CT61 19092004, 205814003
ICD10 via Orphanet30 Q87.2
MESH via Orphanet39 C535326
UMLS via Orphanet68 C0265264
MedGen36 C0265264

Summaries for Holt-Oram Syndrome

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NIH Rare Diseases:47 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 embryo and limbs/digits/tail.

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:69 Holt-Oram syndrome: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

Description from OMIM:51 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 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:

 63 53 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the wrist63 hallmark (90%) HP:0003019
2 abnormality of the metacarpal bones63 53 typical (50%) Frequent (79-30%) HP:0001163
3 triphalangeal thumb63 53 typical (50%) Frequent (79-30%) HP:0001199
4 ventricular septal defect63 53 typical (50%) Frequent (79-30%) HP:0001629
5 atria septal defect63 typical (50%) HP:0001631
6 aplasia/hypoplasia of the radius63 53 typical (50%) Frequent (79-30%) HP:0006501
7 aplasia/hypoplasia of the thumb63 typical (50%) HP:0009601
8 arrhythmia63 typical (50%) HP:0011675
9 hypoplasia of the radius63 37.8049% HP:0002984
10 phocomelia63 53 10.9756% Occasional (29-5%) HP:0009829
11 abnormality of the sternum63 occasional (7.5%) HP:0000766
12 pectus excavatum63 53 occasional (7.5%) Occasional (29-5%) HP:0000767
13 abnormality of the ribs63 53 occasional (7.5%) Occasional (29-5%) HP:0000772
14 sprengel anomaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000912
15 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
16 complete atrioventricular canal defect63 occasional (7.5%) HP:0001674
17 abnormality of the aorta63 53 occasional (7.5%) Occasional (29-5%) HP:0001679
18 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
19 thoracic scoliosis63 occasional (7.5%) HP:0002943
20 radioulnar synostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002974
21 abnormality of the shoulder63 occasional (7.5%) HP:0003043
22 abnormality of the humerus63 53 occasional (7.5%) Occasional (29-5%) HP:0003063
23 hypoplastic left heart63 53 occasional (7.5%) Occasional (29-5%) HP:0004383
24 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
25 aplasia of the pectoralis major muscle63 occasional (7.5%) HP:0009751
26 anomalous pulmonary venous return63 53 occasional (7.5%) Occasional (29-5%) HP:0010772
27 abnormality of the carpal bones63 HP:0001191
28 abnormality of the vertebrae63 HP:0003468
29 absent thumb63 53 Frequent (79-30%) HP:0009777
30 partial duplication of thumb phalanx63 HP:0009944
31 defect in the atrial septum53 Frequent (79-30%)
32 atrioventricular block53 Frequent (79-30%)
33 paroxysmal atrial fibrillation53 Frequent (79-30%)
34 atrioventricular canal defect53 Occasional (29-5%)
35 broad thumb53 Occasional (29-5%)
36 first degree atrioventricular block53 Frequent (79-30%)
37 down-sloping shoulders53 Occasional (29-5%)

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
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 Syndrome26

Anatomical Context for Holt-Oram Syndrome

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MalaCards organs/tissues related to Holt-Oram Syndrome:

35
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:

40
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

Publications for Holt-Oram Syndrome

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Articles related to Holt-Oram Syndrome:

(show top 50)    (show all 201)
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
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. (27695215)
2016
5
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome. (27026770)
2016
6
Monilethrix with holt-oram syndrome: case report of a rare association. (25878448)
2015
7
Tetralogy of Fallot with Holt-Oram syndrome: case report and review. (25903110)
2015
8
Holt-oram syndrome in adult presenting with heart failure: a rare presentation. (24826304)
2014
9
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome. (25274398)
2014
10
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome. (24879328)
2014
11
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. (24185902)
2013
12
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
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:

69
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:003513610.4TBX3, TBX5
2bundle of His developmentGO:000316610.4NKX2-5, TBX5
3positive regulation of cardioblast differentiationGO:005189110.4NKX2-5, TBX5
4ventricular septum morphogenesisGO:006041210.2NKX2-5, TBX3
5sarcomere organizationGO:004521410.2MYH6, NKX2-5
6adult heart developmentGO:000751210.2MYH6, NKX2-5
7atrial septum morphogenesisGO:006041310.2NKX2-5, TBX5
8embryonic heart tube developmentGO:003505010.1NKX2-5, TBX3
9canonical Wnt signaling pathwayGO:006007010.1MYH6, NKX2-5
10outflow tract septum morphogenesisGO:000314810.0NKX2-5, TBX1
11muscle tissue morphogenesisGO:006041510.0SHOX2, TBX1
12pharyngeal system developmentGO:006003710.0NKX2-5, TBX1
13BMP signaling pathwayGO:003050910.0MYH6, NKX2-5
14heart loopingGO:000194710.0NKX2-5, TBX3
15thyroid gland developmentGO:003087810.0NKX2-5, TBX1
16pattern specification processGO:000738910.0TBX1, TBX5
17ventricular septum developmentGO:00032819.9SALL4, TBX5
18cardiac muscle cell differentiationGO:00550079.9NKX2-5, TBX3, TBX5
19blood vessel developmentGO:00015689.9TBX1, TBX3
20stem cell population maintenanceGO:00198279.9SALL4, TBX3
21cardiac muscle contractionGO:00600489.9MYH6, NKX2-5
22positive regulation of mesenchymal cell proliferationGO:00020539.8SHOX2, TBX1
23embryonic forelimb morphogenesisGO:00351159.7SHOX2, TBX3, TBX5
24in utero embryonic developmentGO:00017019.7MYH6, SALL4, TBX3
25embryonic limb morphogenesisGO:00303269.5SALL4, SHOX2, TBX5
26outflow tract morphogenesisGO:00031519.5NKX2-5, TBX1, TBX3
27heart morphogenesisGO:00030079.4NKX2-5, TBX1, TBX3
28positive regulation of transcription, DNA-templatedGO:00458939.0NKX2-5, TBX1, TBX3, TBX5
29negative regulation of transcription from RNA polymerase II promoterGO:00001228.3NKX2-5, SALL4, SHOX2, TBX3
30heart developmentGO:00075078.1NKX2-5, SALL4, SHOX2, TBX1, TBX5
31positive regulation of transcription from RNA polymerase II promoterGO:00459448.0NKX2-5, SALL4, SHOX2, TBX1, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, sequence-specific DNA bindingGO:00037007.9NKX2-5, SALL4, TBX1, TBX3, TBX5
2sequence-specific DNA bindingGO:00435657.6NKX2-5, SALL4, SHOX2, TBX1, TBX3, TBX5

Sources for Holt-Oram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet