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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Heart Septal Defects, Atrial (D006344)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Holt-Oram syndrome (C535326)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5252

Name:

Holt-Oram syndrome

Definition:

Alternative IDs:

OMIM:142900

ParentIDs:

MESH:D000015|MESH:D006330|MESH:D006344|MESH:D038061|MESH:D038062

TreeNumbers:

C05.660.585.512/C535326 |C05.660.585.988/C535326 |C14.240.400.560.375/C535326 |C14.240.400/C535326 |C14.280.400.560.375/C535326 |C14.280.400/C535326 |C16.131.077/C535326 |C16.131.240.400.560.375/C535326 |C16.131.240.400/C535326 |C16.131.621.585.512/C535326 |C16.13

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535326
MeSH: C535326
OMIM: 142900;

Genes: TBX5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003468	Abnormal vertebral morphology
3	HP:0001191	Abnormality of the carpal bones
4	HP:0003974	Absent radius	HP:0040284
5	HP:0009777	Absent thumb	HP:0040284
6	HP:0009751	Aplasia of the pectoralis major muscle	HP:0040284
7	HP:0003982	Aplasia of the ulna	HP:0040284
8	HP:0040019	Finger clinodactyly	HP:0040284
9	HP:0002984	Hypoplasia of the radius	HP:0040284
10	HP:0003022	Hypoplasia of the ulna	HP:0040284
11	HP:0004383	Hypoplastic left heart
12	HP:0001377	Limited elbow extension	HP:0040284
13	HP:0009944	Partial duplication of thumb phalanx
14	HP:0001643	Patent ductus arteriosus	HP:0040284
15	HP:0000767	Pectus excavatum	HP:0040284
16	HP:0009829	Phocomelia
17	HP:0001684	Secundum atrial septal defect	HP:0040284
18	HP:0000894	Short clavicles	HP:0040284
19	HP:0011927	Short digit	HP:0040284
20	HP:0005792	Short humerus	HP:0040284
21	HP:0001245	Small thenar eminence	HP:0040284
22	HP:0001159	Syndactyly	HP:0040284
23	HP:0002943	Thoracic scoliosis
24	HP:0001199	Triphalangeal thumb	HP:0040284
25	HP:0001629	Ventricular septal defect	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln)	6910	TBX5	Likely pathogenic;Pathogenic	104894378	RCV000008457; RCV000196777;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004; MedGen:CN221809	12	114823326	114823326	NM_000192.3:c.710G>A	NP_000183.2:p.Arg237Gln	NC_000012.11:g.114823326C>T	OMIM Allelic Variant:601620.0003	C0265264 142900 Holt-Oram syndrome; CN221809 not provided
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp)	6910	TBX5	Pathogenic	104894382	RCV000008459; RCV000200682; RCV000128627;	N	MedGen:C0018798,OMIM:140500,OMIM:234750; MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004; MedGen:CN221809	12	114823327	114823327	NM_000192.3:c.709C>T	NP_000183.2:p.Arg237Trp	NC_000012.11:g.114823327G>A	OMIM Allelic Variant:601620.0005	C0265264 142900 Holt-Oram syndrome; C0018798 140500 Malformation of the heart; C0018798 234750 Malformation of the heart; CN221809 not provided
NM_000192.3(TBX5):c.408C>A (p.Tyr136Ter)	6910	TBX5	Pathogenic	104894379	RCV000008463;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004	12	114836480	114836480	NM_000192.3:c.408C>A	NP_000183.2:p.Tyr136Ter	NC_000012.11:g.114836480G>T	OMIM Allelic Variant:601620.0009	C0265264 142900 Holt-Oram syndrome
NM_000192.3(TBX5):c.238G>A (p.Gly80Arg)	6910	TBX5	Pathogenic	104894381	RCV000008458;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004	12	114839635	114839635	NM_000192.3:c.238G>A	NP_000183.2:p.Gly80Arg	NC_000012.11:g.114839635C>T	OMIM Allelic Variant:601620.0004	C0265264 142900 Holt-Oram syndrome
NM_000192.3(TBX5):c.205G>T (p.Glu69Ter)	6910	TBX5	Pathogenic	104894377	RCV000008456;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004	12	114839668	114839668	NM_000192.3:c.205G>T	NP_000183.2:p.Glu69Ter	NC_000012.11:g.114839668C>A	OMIM Allelic Variant:601620.0002	C0265264 142900 Holt-Oram syndrome
NM_000192.3(TBX5):c.161T>C (p.Ile54Thr)	6910	TBX5	Pathogenic	104894384	RCV000008462;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004	12	114839712	114839712	NM_000192.3:c.161T>C	NP_000183.2:p.Ile54Thr	NC_000012.11:g.114839712A>G	OMIM Allelic Variant:601620.0008	C0265264 142900 Holt-Oram syndrome
NM_000192.3(TBX5):c.145C>A (p.Gln49Lys)	6910	TBX5	Pathogenic	104894383	RCV000008461;	N	MedGen:C0265264,OMIM:142900,ORPHA:392,SNOMED CT:19092004	12	114841559	114841559	NM_000192.3:c.145C>A	NP_000183.2:p.Gln49Lys	NC_000012.11:g.114841559G>T	OMIM Allelic Variant:601620.0007	C0265264 142900 Holt-Oram syndrome