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encyclopedia of Rare Disease Annotation for Precision Medicine

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	holt oram syndrome

Disease ID	581
Disease	holt oram syndrome
Definition	characterized by malformations of bones of the thumbs, hands and forearms and/or abnormalities of the heart; in many infants, the thumbs and wrists may be absent, underdeveloped or have an extra bone; scapulae, clavicles, and/or other bones may also be abnormal.
Synonym	atrio-digital syndrome atriodigital dysplasia atriodigital dysplasia type 1 cardiac-limb syndrome heart-hand syndrome heart-hand syndrome type 1 heart-hand syndrome, type 1 holt-oram syndrome holt-oram syndrome (disorder) holt-oram syndrome [dup] (disorder) hos1 ventriculo-radial syndrome
Orphanet	ORPHANET:392 ORPHANET:228184
OMIM	OMIM:142900
DOID	DOID:0060468
UMLS	C0265264
SNOMED-CT	SNOMEDCT_US_2016_09_01:19092004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0018818 \| ventricular septal defects \| 1 C0152021 \| congenital heart disease \| 1 C0013069 \| double outlet right ventricle \| 1 C0018799 \| heart diseases \| 1 C0265308 \| baller-gerold syndrome \| 1 C0018818 \| ventricular septal defect \| 1 C0018799 \| heart disease \| 1 C0018816 \| septal defects \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6910 \| TBX5 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 6926 \| TBX3 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6910 \| TBX5 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:33) 488 \| ATP2A2 \| 1.216 \| DISEASES 655 \| BMP7 \| 1.037 \| DISEASES 92211 \| CDHR1 \| 2.892 \| DISEASES 1123 \| CHN1 \| 2.527 \| DISEASES 22862 \| FNDC3A \| 2.265 \| DISEASES 2626 \| GATA4 \| 4.231 \| DISEASES 2737 \| GLI3 \| 1.09 \| DISEASES 64327 \| LMBR1 \| 2.1 \| DISEASES 4000 \| LMNA \| 2.352 \| DISEASES 4205 \| MEF2A \| 1.469 \| DISEASES 4208 \| MEF2C \| 1.564 \| DISEASES 407975 \| MIR17HG \| 1.427 \| DISEASES 4629 \| MYH11 \| 1.187 \| DISEASES 4624 \| MYH6 \| 2.965 \| DISEASES 4625 \| MYH7 \| 1.313 \| DISEASES 4626 \| MYH8 \| 2.693 \| DISEASES 93649 \| MYOCD \| 1.906 \| DISEASES 1482 \| NKX2-5 \| 5.197 \| DISEASES 4878 \| NPPA \| 3.133 \| DISEASES 5573 \| PRKAR1A \| 1.37 \| DISEASES 9939 \| RBM8A \| 1.383 \| DISEASES 4920 \| ROR2 \| 2.434 \| DISEASES 6474 \| SHOX2 \| 2.437 \| DISEASES 9353 \| SLIT2 \| 1.807 \| DISEASES 6586 \| SLIT3 \| 1.674 \| DISEASES 503542 \| SPRN \| 2.249 \| DISEASES 6427 \| SRSF2 \| 1.576 \| DISEASES 10716 \| TBR1 \| 2.466 \| DISEASES 6899 \| TBX1 \| 3.149 \| DISEASES 9096 \| TBX18 \| 3.042 \| DISEASES 9095 \| TBX19 \| 2.527 \| DISEASES 50945 \| TBX22 \| 2.255 \| DISEASES 7021 \| TFAP2B \| 3.158 \| DISEASES
Locus	(Waiting for update.)

Disease ID	581
Disease	holt oram syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0001636 \| Tetrology of fallot \| 2 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0001671 \| Abnormality of the cardiac septa \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0011604 \| Aortopulmonary window \| 1 HP:0011576 \| Intermediate atrioventricular canal defect \| 1 HP:0001674 \| Complete atrioventricular septal defect \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0001629 \| Ventricular septal defects \| 1

Disease ID	581
Disease	holt oram syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0018818 \| ventricular septal defect \| 1 C0018816 \| septal defects \| 1

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
TBX5	chr12:g.114841599delG, heterozygous;NM_000192.3, NP_000183.2;c.105delC, p.(Ser36Alafs*30)	doi:10.1038/gim.2016.1	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
TBX5	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894377	15039979	6910	TBX5	umls:C0265264	BeFree	Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter-TBX5 mutation and then underwent embryo biopsy and genotyping.	0.576677506	2004	TBX5	12	114401863	C	A
rs104894377	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114401863	C	A
rs104894378	11431700	6910	TBX5	umls:C0265264	BeFree	A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.	0.576677506	2001	TBX5	12	114385521	C	T
rs104894378	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114385521	C	T
rs104894379	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114398675	G	T
rs104894381	11431700	6910	TBX5	umls:C0265264	BeFree	A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.	0.576677506	2001	TBX5	12	114401830	C	T
rs104894381	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114401830	C	T
rs104894382	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114385522	G	A
rs104894383	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5;LOC105369997	12	114403754	G	T
rs104894384	NA	6910	TBX5	umls:C0265264	CLINVAR	NA	0.576677506	NA	TBX5	12	114401907	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	581
Disease	holt oram syndrome
Case	(Waiting for update.)

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