BDA2
MCID: BRC079
MIFTS: 45

Brachydactyly, Type A2 (BDA2) malady

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

Aliases & Classifications for Brachydactyly, Type A2

Aliases & Descriptions for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 54 13 52 69
Brachydactyly Type A2 12 50 24 56 42
Bda2 12 50 24 66
Mohr-Wriedt Type Brachydactyly 12 50 66
Brachymesophalangy Ii 12 66
Brachydactyly A2 66 29
Brachydactyly, Mohr-Wriedt Type 56
Brachymesophalangy Type 2 50
Brachymesophalangy 2 50

Characteristics:

Orphanet epidemiological data:

56
brachydactyly type a2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
brachydactyly, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 112600
Disease Ontology 12 DOID:0110965
ICD10 33 Q73.8
Orphanet 56 ORPHA93396
MESH via Orphanet 43 C537089
UMLS via Orphanet 70 C1832702
ICD10 via Orphanet 34 Q73.8
MedGen 40 C1832702
UMLS 69 C1832702

Summaries for Brachydactyly, Type A2

NIH Rare Diseases : 50 brachydactyly type a2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. typically, people affected by brachydactyly type a2 have very short (hypoplastic) middle bones of these digits. in some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that the fingers and toes may look misshapen. there have not been reports of other symptoms associated with brachydactyly type a2. typically, brachydactyly type a2 does not require surgery, and affected individuals are able to use their hands normally. last updated: 10/31/2016

MalaCards based summary : Brachydactyly, Type A2, also known as brachydactyly type a2, is related to brachydactyly, type a4 and brachydactyly, and has symptoms including short foot, clinodactyly of the 5th finger and short middle phalanx of the 5th finger. An important gene associated with Brachydactyly, Type A2 is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include bone, and related phenotypes are Decreased substrate adherent cell growth and limbs/digits/tail

Disease Ontology : 12 A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has material basis in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.

OMIM : 54 Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the... (112600) more...

UniProtKB/Swiss-Prot : 66 Brachydactyly A2: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.

Related Diseases for Brachydactyly, Type A2

Graphical network of the top 20 diseases related to Brachydactyly, Type A2:



Diseases related to Brachydactyly, Type A2

Symptoms & Phenotypes for Brachydactyly, Type A2

Symptoms by clinical synopsis from OMIM:

112600

Clinical features from OMIM:

112600

Human phenotypes related to Brachydactyly, Type A2:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot 56 32 Frequent (79-30%) HP:0001773
2 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
3 short middle phalanx of the 5th finger 56 32 Occasional (29-5%) HP:0004220
4 short 2nd metacarpal 56 32 Occasional (29-5%) HP:0010038
5 type a2 brachydactyly 56 32 Very frequent (99-80%) HP:0009372
6 aplasia/hypoplasia of the middle phalanx of the 2nd finger 56 32 Occasional (29-5%) HP:0009568
7 short stature 32 HP:0004322
8 brachydactyly syndrome 32 HP:0001156
9 hallux valgus 32 HP:0001822
10 short hallux 32 HP:0010109
11 2-3 toe syndactyly 32 HP:0004691
12 short 2nd finger 32 HP:0009536
13 short middle phalanx of finger 56 Occasional (29-5%)
14 radial deviation of the 2nd finger 32 HP:0009467
15 broad hallux 32 HP:0010055
16 medially deviated second toe 32 HP:0008096
17 aplasia/hypoplasia of the middle phalanx of the 5th finger 32 HP:0009161
18 triangular shaped middle phalanx of the 5th finger 32 HP:0009182
19 bracket epiphysis of the middle phalanx of the 5th finger 32 HP:0009204
20 ulnar deviation of the 2nd finger 32 HP:0009464
21 bracket epiphysis of the middle phalanx of the 2nd finger 32 HP:0009514
22 triangular shaped middle phalanx of the 2nd finger 32 HP:0009575
23 aplasia/hypoplasia of the middle phalanges of the toes 32 HP:0010194

GenomeRNAi Phenotypes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.02 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.02 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.02 BMPR1A
4 Decreased substrate adherent cell growth GR00193-A-4 9.02 BMPR1A BMPR1B

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.46 BMP2 BMPR1A BMPR1B GDF5
2 reproductive system MP:0005389 9.26 GDF5 BMP2 BMPR1A BMPR1B
3 skeleton MP:0005390 8.92 BMP2 BMPR1A BMPR1B GDF5

Drugs & Therapeutics for Brachydactyly, Type A2

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A2

Cochrane evidence based reviews: brachydactyly type a2

Genetic Tests for Brachydactyly, Type A2

Genetic tests related to Brachydactyly, Type A2:

id Genetic test Affiliating Genes
1 Brachydactyly Type A2 29 24 GDF5 BMPR1B BMP2

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

39
Bone

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

id Title Authors Year
1
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560 )
2014
2
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. ( 21357617 )
2011
3
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. ( 19327734 )
2009
4
Brachydactyly type A2 associated with a defect in proGDF5 processing. ( 18203755 )
2008
5
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. ( 16957682 )
2006
6
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. ( 16014698 )
2006
7
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. ( 16127465 )
2005
8
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. ( 14523231 )
2003

Variations for Brachydactyly, Type A2

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A2:

66
id Symbol AA change Variation ID SNP ID
1 BMPR1B p.Ile200Lys VAR_023819 rs28939703
2 BMPR1B p.Arg486Trp VAR_023820 rs28939704
3 BMPR1B p.Arg486Gln VAR_037967 rs121434419
4 GDF5 p.Leu441Pro VAR_017408 rs28936683
5 GDF5 p.Arg380Gln VAR_046743

ClinVar genetic disease variations for Brachydactyly, Type A2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1B NM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys) single nucleotide variant Pathogenic rs121434417 GRCh37 Chromosome 4, 96051026: 96051026
2 BMPR1B NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic rs121434418 GRCh37 Chromosome 4, 96075771: 96075771
3 BMPR1B NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln) single nucleotide variant Pathogenic rs121434419 GRCh37 Chromosome 4, 96075772: 96075772
4 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh37 Chromosome 20, 34021891: 34021891
5 BMP2 BMP2, 2.1-KB DUP, +110 KB duplication Pathogenic
6 GDF5 NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln) single nucleotide variant Pathogenic rs397514668 GRCh37 Chromosome 20, 34022074: 34022074

Copy number variations for Brachydactyly, Type A2 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 154928 20 5000000 9000000 Duplication BMP2 Brachydactyly type A2

Expression for Brachydactyly, Type A2

Search GEO for disease gene expression data for Brachydactyly, Type A2.

Pathways for Brachydactyly, Type A2

Pathways related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 BMP2 BMPR1A BMPR1B GDF5
2
Show member pathways
13.11 BMP2 BMPR1A BMPR1B GDF5
3
Show member pathways
12.88 BMP2 BMPR1A BMPR1B GDF5
4
Show member pathways
12.69 BMP2 BMPR1A BMPR1B GDF5
5
Show member pathways
12.04 BMP2 BMPR1A BMPR1B
6
Show member pathways
11.99 BMP2 BMPR1A BMPR1B
7
Show member pathways
11.76 BMPR1A BMPR1B
8 11.68 BMPR1A BMPR1B
9 11.67 BMPR1A BMPR1B
10 11.49 BMP2 GDF5
11 11.44 BMP2 BMPR1A BMPR1B GDF5
12
Show member pathways
11.36 BMP2 GDF5
13
Show member pathways
11.29 BMP2 BMPR1A BMPR1B
14 11.12 BMP2 BMPR1A
15 10.85 BMP2 BMPR1A BMPR1B GDF5
16 10.67 BMP2 BMPR1A BMPR1B

GO Terms for Brachydactyly, Type A2

Cellular components related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 8.62 BMPR1A BMPR1B

Biological processes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.8 BMP2 BMPR1A BMPR1B
2 cell differentiation GO:0030154 9.79 BMP2 BMPR1A BMPR1B
3 protein phosphorylation GO:0006468 9.77 BMP2 BMPR1A BMPR1B
4 skeletal system development GO:0001501 9.62 BMP2 BMPR1B
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.61 BMPR1A GDF5
6 positive regulation of neuron differentiation GO:0045666 9.61 BMP2 GDF5
7 BMP signaling pathway GO:0030509 9.61 BMP2 BMPR1A BMPR1B
8 SMAD protein signal transduction GO:0060395 9.59 BMP2 GDF5
9 odontogenesis of dentin-containing tooth GO:0042475 9.58 BMP2 BMPR1A
10 cellular response to growth factor stimulus GO:0071363 9.58 BMP2 BMPR1B
11 positive regulation of osteoblast differentiation GO:0045669 9.58 BMP2 BMPR1A BMPR1B
12 signal transduction by protein phosphorylation GO:0023014 9.57 BMPR1A BMPR1B
13 cell development GO:0048468 9.56 BMP2 GDF5
14 positive regulation of cell differentiation GO:0045597 9.55 BMP2 BMPR1B
15 dorsal/ventral pattern formation GO:0009953 9.54 BMPR1A BMPR1B
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.54 BMP2 BMPR1A GDF5
17 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.52 BMP2 BMPR1A
18 positive regulation of chondrocyte differentiation GO:0032332 9.51 BMPR1B GDF5
19 cellular response to BMP stimulus GO:0071773 9.5 BMP2 BMPR1A BMPR1B
20 positive regulation of cartilage development GO:0061036 9.49 BMP2 BMPR1B
21 endocardial cushion morphogenesis GO:0003203 9.48 BMP2 BMPR1A
22 hindlimb morphogenesis GO:0035137 9.46 BMPR1A GDF5
23 positive regulation of bone mineralization GO:0030501 9.43 BMP2 BMPR1A BMPR1B
24 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.33 BMPR1A BMPR1B GDF5
25 cartilage development GO:0051216 9.26 BMP2 BMPR1A BMPR1B GDF5
26 chondrocyte differentiation GO:0002062 8.92 BMP2 BMPR1A BMPR1B GDF5

Molecular functions related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.37 BMP2 GDF5
2 glycoprotein binding GO:0001948 9.32 BMPR1A BMPR1B
3 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.26 BMPR1A BMPR1B
4 transforming growth factor beta receptor binding GO:0005160 9.16 BMP2 GDF5
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1A BMPR1B
6 SMAD binding GO:0046332 8.8 BMP2 BMPR1A BMPR1B

Sources for Brachydactyly, Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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