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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: Brachydactyly (D059327)
..Starting node ..Brachydactyly type A1 (C537088)
Child Nodes:
Sister Nodes:
..Acrocapitofemoral Dysplasia (C564334)
..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Berk-Tabatznik syndrome (C535432)
..Bork Stender Schmidt syndrome (C536576)
..Brachydactyly preaxial with hallux varus and thumb abduction (C537087)
..Brachydactyly type A1 (C537088)
..Brachydactyly type A2 (C537089)
..Brachydactyly type A3 (C537090)
..Brachydactyly type A5 nail dysplasia (C537091)
..Brachydactyly type A6 (C537092)
..Brachydactyly type C (C537093)
..Brachydactyly types B and E combined (C537094)
..Brachydactyly with hypertension (C537095)
..Brachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Brachydactyly, Long-Thumb Type (C566204)
..Brachydactyly, Type A1, B (C564635)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Brachydactyly, Type B1 (C566196)
..BRACHYDACTYLY, TYPE B2 (OMIM:611377)
..Brachydactyly, Type D (C562420)
..Brachydactyly, Type E (C566194) 1
..Brachydactyly, Type E, with Atrial Septal Defect, Type II (C566193)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Brachydactyly-Syndactyly Syndrome (C565193)
..Brachymesophalangy 2 and 5 (C537097)
..Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly (C566119)
..Coloboma of Macula and Skeletal Anomalies (C565686)
..Coloboma of macula type B brachydactyly (C535969)
..Cryptomicrotia brachydactyly syndrome (C536219)
..Digital Arthropathy-Brachydactyly, Familial (C564656)
..Exostoses with Anetodermia and Brachydactyly, Type E (C565034)
..Fibular aplasia ectrodactyly (C537930)
..Fibular hypoplasia and complex brachydactyly (C537931)
..Fitzsimmons-Guilbert syndrome (C537938)
..GOMBO syndrome (C537284)
..Heart-hand syndrome, Spanish type (C535853)
..Hirschsprung disease type d brachydactyly (C538319)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Prata Libéral Gonçalves syndrome (C538277)
..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..Sillence syndrome (C537338)
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay (C566053)
..Tonoki syndrome (C536967)
..Ulnar/Fibular Ray Defect and Brachydactyly (C563905)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1413

Name:

Brachydactyly type A1

Definition:

Alternative IDs:

OMIM:112500

ParentIDs:

MESH:D059327

TreeNumbers:

C05.660.585.262/C537088 |C16.131.621.585.262/C537088

Synonyms:

BDA1 |Brachydactyly, Farabee type |Brachydactyly, Type A1 |Farabee-Type Brachydactyly

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C537088
MeSH: C537088
OMIM: 112500;

Genes: IHH;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001032	Absent distal interphalangeal creases
3	HP:0001156	Brachydactyly
4	HP:0006146	Broad metacarpal epiphyses
5	HP:0001169	Broad palm
6	HP:0004209	Clinodactyly of the 5th finger
7	HP:0001204	Distal symphalangism of hands
8	HP:0005194	Flattened metatarsal heads
9	HP:0001425	Heterogeneous
10	HP:0006165	Proportionate shortening of all digits
11	HP:0009467	Radial deviation of the 2nd finger
12	HP:0009462	Radial deviation of the 3rd finger
13	HP:0009279	Radial deviation of the 4th finger
14	HP:0009882	Short distal phalanx of finger
15	HP:0010049	Short metacarpal
16	HP:0004279	Short palm
17	HP:0010107	Short proximal phalanx of hallux
18	HP:0009638	Short proximal phalanx of thumb
19	HP:0004322	Short stature
20	HP:0006236	Slender metacarpals
21	HP:0006213	Thin proximal phalanges with broad epiphyses of the hand

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_002181.3(IHH):c.461C>T (p.Thr154Ile)	3549	IHH	Pathogenic	121917861	RCV000009423;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219922271	219922271	NM_002181.3:c.461C>T	NP_002172.2:p.Thr154Ile	NC_000002.11:g.219922271G>A	OMIM Allelic Variant:600726.0008	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.391G>A (p.Glu131Lys)	3549	IHH	Pathogenic	121917853	RCV000009417;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219922341	219922341	NM_002181.3:c.391G>A	NP_002172.2:p.Glu131Lys	NC_000002.11:g.219922341C>T	OMIM Allelic Variant:600726.0002	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.389C>A (p.Thr130Asn)	3549	IHH	Pathogenic	267606872	RCV000009426;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219922343	219922343	NM_002181.3:c.389C>A	NP_002172.2:p.Thr130Asn	NC_000002.11:g.219922343G>T	OMIM Allelic Variant:600726.0011	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.383G>A (p.Arg128Gln)	3549	IHH	Pathogenic	267606873	RCV000009425;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219922349	219922349	NM_002181.3:c.383G>A	NP_002172.2:p.Arg128Gln	NC_000002.11:g.219922349C>T	OMIM Allelic Variant:600726.0010	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.300C>A (p.Asp100Glu)	3549	IHH	Pathogenic	121917854	RCV000009418;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219924890	219924890	NM_002181.3:c.300C>A	NP_002172.2:p.Asp100Glu	NC_000002.11:g.219924890G>T	OMIM Allelic Variant:600726.0003	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.298G>A (p.Asp100Asn)	3549	IHH	Pathogenic	121917855	RCV000009419;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219924892	219924892	NM_002181.3:c.298G>A	NP_002172.2:p.Asp100Asn	NC_000002.11:g.219924892C>T	OMIM Allelic Variant:600726.0004	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.284A>G (p.Glu95Gly)	3549	IHH	Pathogenic	121917859	RCV000009422;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219924906	219924906	NM_002181.3:c.284A>G	NP_002172.2:p.Glu95Gly	NC_000002.11:g.219924906T>C	OMIM Allelic Variant:600726.0007	C1862151 112500 Brachydactyly type A1
NM_002181.3(IHH):c.283G>A (p.Glu95Lys)	3549	IHH	Pathogenic	121917852	RCV000009416;	N	MedGen:C1862151,OMIM:112500,ORPHA:93388	2	219924907	219924907	NM_002181.3:c.283G>A	NP_002172.2:p.Glu95Lys	NC_000002.11:g.219924907C>T	OMIM Allelic Variant:600726.0001	C1862151 112500 Brachydactyly type A1