MCID: HLT001
MIFTS: 60

Holt-Oram Syndrome malady

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

Aliases & Classifications for Holt-Oram Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Holt-Oram Syndrome:

Name: Holt-Oram Syndrome 49 10 11 21 45 23 47 12 51 67 36 65
Hos 45 23 51 67
Atriodigital Dysplasia 10 45 23
Heart-Hand Syndrome, Type 1 45 23
Ventriculo-Radial Syndrome 45 23
Atrio-Digital Syndrome 10 23
Cardiac-Limb Syndrome 45 23
 
Heart-Hand Syndrome 10 45
Holt Oram Syndrome 47 24
Atriodigital Dysplasia Type 1 51
Heart-Hand Syndrome Type 1 51
Atrio Digital Syndrome 45
Hearthand Syndrome 21
Hos 1 45

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

HPO:

61
holt-oram syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 142900
Disease Ontology10 DOID:0060468
ICD1027 Q87.2
MeSH36 C535326
Orphanet51 392
MESH via Orphanet37 C535326
UMLS via Orphanet66 C0265264
ICD10 via Orphanet28 Q87.2
MedGen34 C0265264
UMLS65 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 polyneuropathy and congenital heart disease, and has symptoms including abnormality of the wrist, arrhythmia and aplasia/hypoplasia of the thumb. An important gene associated with Holt-Oram Syndrome is TBX5 (T-Box 5), and among its related pathways are Regulation of nuclear SMAD2/3 signaling and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include heart, upper limb and heart, and related mouse phenotypes are limbs/digits/tail and normal.

Disease Ontology:10 An autosomal dominant disease characterized by congenital anomalies located in heart and located in upper limb.

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.

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

Description from OMIM:49 142900

GeneReviews summary for NBK1111

Related Diseases for Holt-Oram Syndrome

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Diseases in the Holt-Oram Syndrome family:

Tbx5-Related Holt-Oram Syndrome Sall4-Related Holt-Oram Syndrome

Diseases related to Holt-Oram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1polyneuropathy30.6MYH6, TBX3
2congenital heart disease30.2NKX2-5, TBX1, TBX5
3tbx5-related holt-oram syndrome12.7
4sall4-related holt-oram syndrome12.7
5heart-hand syndrome, slovenian type11.4
6tabatznik syndrome11.4
7heart-hand syndrome type 311.4
8duane-radial ray syndrome10.8
9pulpitis10.6
10cerebritis10.6
11colorectal cancer10.5
12hepatocellular carcinoma10.5
13breast cancer10.5
14colorectal adenoma10.5
15lymphoma10.5
16tonsillitis10.5
17pancreatitis10.5
18adenoma10.5
19intestinal obstruction10.5
20glioblastoma10.5
21cardiomyopathy10.5
22hypoxia10.5
23rheumatoid arthritis10.4
24malaria10.4
25asthma10.4
26achondroplasia10.4
27alzheimer disease10.4
28saethre-chotzen syndrome10.4
29crouzon syndrome10.4
30myxoid liposarcoma10.4
31retinoblastoma10.4
32pancreatic cancer10.4
33creutzfeldt-jakob disease10.4
34hemochromatosis10.4
35alpha 1-antitrypsin deficiency10.4
36arthritis10.4
37chronic inflammatory demyelinating polyneuropathy10.4
38craniosynostosis10.4
39glomerulonephritis10.4
40leukemia10.4
41liver cirrhosis10.4
42liver disease10.4
43mantle cell lymphoma10.4
44pemphigus vulgaris10.4
45pulmonary emphysema10.4
46sinusitis10.4
47thalassemia10.4
48lymphoid interstitial pneumonia10.4
49asphyxiating thoracic dystrophy10.4
50artery disease10.4

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

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 2158223214-92-831703
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 2158231703
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


Cochrane evidence based reviews: holt-oram syndrome

Genetic Tests for Holt-Oram Syndrome

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Anatomical Context for Holt-Oram Syndrome

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MalaCards organs/tissues related to Holt-Oram Syndrome:

33
Heart, Bone, Prostate, Endothelial, Lung, Brain, T cells

FMA organs/tissues related to Holt-Oram Syndrome:

16
Heart, Upper limb

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:00053719.1SALL4, TBX1, TBX3, TBX5
2MP:00028738.6EP300, NKX2-5, TBX1, TBX3, TBX5
3MP:00053798.4EP300, NKX2-5, SRSF2, TBX1, TBX3
4MP:00053808.2EP300, NKX2-5, SALL4, TBX1, TBX3, TBX5
5MP:00053828.2EP300, NKX2-5, SALL4, TBX1, TBX3
6MP:00053787.5EP300, NKX2-5, SALL4, TBX1, TBX3, TBX5
7MP:00053696.9EP300, MYH6, NKX2-5, SRSF2, TBX1, TBX3
8MP:00053856.4EP300, MYH6, NKX2-5, SALL4, SRSF2, TBX1
9MP:00107686.3EP300, MYH6, NKX2-5, SALL4, SRSF2, TBX1

Publications for Holt-Oram Syndrome

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Articles related to Holt-Oram Syndrome:

(show top 50)    (show all 184)
idTitleAuthorsYear
1
Severe adult respiratory distress syndrome from Goodpasture syndrome. Survival using extracorporeal membrane oxygenation. (25590156)
2015
2
Aldehyde dehydrogenase 2 as a potential protective factor for renal insufficiency in Japanese subjects with heart failure: a pilot study. (24067347)
2014
3
Long-term efficacy and safety of arsenic trioxide for first-line treatment of elderly patients with newly diagnosed acute promyelocytic leukemia. (22930197)
2013
4
Teaching children with dyslexia to spell in a reading-writers' workshop. (21845501)
2013
5
Estrogen receptor I+ gene analysis in girls with central precocious puberty. (23585209)
2013
6
Current understanding of the role of the Brd4 protein in the papillomavirus lifecycle. (23722886)
2013
7
Lipid lowering and imaging protease activation in atherosclerosis. (24368425)
2013
8
Multifaceted activities of CCR7 regulate T-cell homeostasis in health and disease. (22700449)
2012
9
Posterior Reversible Encephalopathy Syndrome during Recovery from Acute Kidney Injury after Hepatitis A Infection. (23197953)
2012
10
Primary disseminated extrapulmonary multidrug resistant tuberculosis. (22885212)
2012
11
Association of TSC gene variants and hypertension in Mongolian and Han populations. (21644207)
2011
12
Schizophrenia, brain disease and meta-analyses: integrating the pieces and testing Fusar-Poli's hypothesis. (19651477)
2010
13
EF1alpha and RPL13a represent normalization genes suitable for RT-qPCR analysis of bone marrow derived mesenchymal stem cells. (20716364)
2010
14
The FagerstrAPm test for nicotine dependence in an Indian sample of daily smokers with poly drug use. (20837653)
2010
15
Reduced facial nerve hyperexcitability from contralateral cerebral stroke in hemifacial spasm. (20310047)
2010
16
15-Lipoxygenase-1 expression suppresses the invasive properties of colorectal carcinoma cell lines HCT-116 and HT-29. (19775287)
2009
17
McCune-Albright Syndrome: intensely hypermetabolic polyostotic fibrous dysplasia on F-18 FDG-PET. (19851179)
2009
18
Rates of glucose uptake in adipose tissue and muscle in vivo after a mixed meal in women with morbid obesity. (19435828)
2009
19
Mechanical force augments the anti-osteoclastogenic potential of human gingival fibroblasts in vitro. (18842115)
2009
20
Enhanced interaction between focal adhesion and adherens junction proteins: involvement in sphingosine 1-phosphate-induced endothelial barrier enhancement. (19323978)
2009
21
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. (18339181)
2008
22
Ranibizumab for treatment of exudative age-related macular degeneration--own experience]. (18488382)
2007
23
Etiology of early-onset type 2 diabetes in Indians: islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene. (17440016)
2007
24
Fank1 is a testis-specific gene encoding a nuclear protein exclusively expressed during the transition from the meiotic to the haploid phase of spermatogenesis. (17604233)
2007
25
Altered ghrelin and peptide YY responses to meals in bulimia nervosa. (15638873)
2005
26
A discrepancy between cystic echinococcosis confirmed by ultrasound and seropositivity in Turkish children. (15652335)
2005
27
Investigating genetic damage of workers occupationally exposed to methotrexate]. (16405770)
2005
28
Autophosphorylation suppresses whereas kinase inhibition augments the translocation of protein kinase Calpha in response to diacylglycerol. (15277524)
2004
29
Ral and phospholipase D2-dependent pathway for constitutive metabotropic glutamate receptor endocytosis. (15470141)
2004
30
Progress report on hair keratin research. (18498508)
2002
31
Spontaneous coronary artery dissection in a healthy postmenopausal woman. (12033466)
2002
32
Lack of association between an estrogen receptor 1 gene polymorphism and Parkinson's disease with dementia. (12174171)
2002
33
Rac is activated by tumor necrosis factor alpha and is involved in activation of Erk. (11453646)
2001
34
No BCL-2 protein over expression but BCL-2/IgH rearrangements in B cells of patients with persistent polyclonal B-cell lymphocytosis. (11920254)
2001
35
Acid-dependent dismutation of nitrogen oxides may be a critical source of nitric oxide in human macrophages. (10859695)
2000
36
Systemic findings associated with central serous chorioretinopathy. (10482095)
1999
37
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
38
Unique DNA binding mode of the N-terminal zinc finger of transcription factor Sp1. (9578568)
1998
39
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. (9199352)
1997
40
Analysis of T cell activation pathways in patients with liver cirrhosis, impaired delayed hypersensitivity and other T cell-dependent functions. (9097923)
1997
41
Acral dysostosis dyserythropoiesis syndrome. (7641772)
1995
42
Osteomalacia with hypophosphatemia and hypercalciuria: a possible new variant of osteomalacia. (7608793)
1995
43
Pathophysiology and treatment of the anemia of prematurity. (7743231)
1995
44
Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain. (7633419)
1995
45
Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. (7911873)
1994
46
Plutonium-induced mycosis fungoides and parapsoriasis en plaques--a new entity? (2298035)
1990
47
Clinical spectrum of sinus node disease: sick sinus syndrome. (4596503)
1974
48
Double-blind studies on the use of steroids in the treatment of acute hemarthrosis in patients with hemophilia. (4907066)
1970
49
Erythema elevatum diutinum; report of a case. (13616718)
1959
50

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1bundle of His developmentGO:000316610.4NKX2-5, TBX5
2forelimb morphogenesisGO:003513610.3TBX3, TBX5
3ventricular septum developmentGO:000328110.2SALL4, TBX5
4embryonic heart tube developmentGO:003505010.2NKX2-5, TBX3
5atrial septum morphogenesisGO:006041310.2NKX2-5, TBX5
6heart loopingGO:000194710.2NKX2-5, TBX3
7blood vessel developmentGO:000156810.1TBX1, TBX3
8heart morphogenesisGO:000300710.1NKX2-5, TBX3
9stem cell population maintenanceGO:001982710.1SALL4, TBX3
10outflow tract septum morphogenesisGO:000314810.1NKX2-5, TBX1
11thyroid gland developmentGO:003087810.1NKX2-5, TBX1
12pharyngeal system developmentGO:006003710.0NKX2-5, TBX1
13pattern specification processGO:000738910.0TBX1, TBX5
14organ morphogenesisGO:000988710.0EP300, TBX3
15cardiac muscle cell differentiationGO:00550079.9NKX2-5, TBX3, TBX5
16cellular response to retinoic acidGO:00713009.5EP300, TBX1
17lung developmentGO:00303249.5EP300, TBX5
18transcription from RNA polymerase II promoterGO:00063669.3NKX2-5, SRSF2, TBX5
19positive regulation of cell proliferationGO:00082849.2NKX2-5, TBX1, TBX3
20heart developmentGO:00075078.9EP300, NKX2-5, SALL4, TBX1
21negative regulation of transcription from RNA polymerase II promoterGO:00001228.8EP300, NKX2-5, SALL4, TBX3
22positive regulation of transcription, DNA-templatedGO:00458938.7EP300, NKX2-5, TBX1, TBX3, TBX5
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.2EP300, NKX2-5, SALL4, TBX1, TBX5

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.6EP300, TBX3
2protein kinase bindingGO:00199019.1EP300, MYH6

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