MCID: BRC079
MIFTS: 45

Brachydactyly, Type A2

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

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 53 13 51 69
Brachydactyly Type A2 12 72 49 55 28 41
Mohr-Wriedt Type Brachydactyly 53 12 49 71
Bda2 53 12 49 71
Brachymesophalangy Ii 53 12 71
Brachydactyly, Mohr-Wriedt Type 55
Brachymesophalangy Type 2 49
Brachymesophalangy 2 49
Brachydactyly A2 71

Characteristics:

Orphanet epidemiological data:

55
brachydactyly type a2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 112600
Disease Ontology 12 DOID:0110965
ICD10 32 Q73.8
Orphanet 55 ORPHA93396
MESH via Orphanet 42 C537089
UMLS via Orphanet 70 C1832702
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1832702
UMLS 69 C1832702

Summaries for Brachydactyly, Type A2

NIH Rare Diseases : 49 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 c 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 Decreased substrate adherent cell growth

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 : 53 Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011). (112600)

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term which literally... more...

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 via clinical synopsis from OMIM:

53
Skeletal Hands:
brachydactyly
medially deviated index finger
short index finger
variable fifth finger clinodactyly
hypoplastic/aplastic middle phalanx (2nd finger)
more
Skeletal Feet:
short, broad laterally deviated halluces
medially deviated second toe
syndactyly (2-3)


Clinical features from OMIM:

112600

Human phenotypes related to Brachydactyly, Type A2:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
2 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
3 short middle phalanx of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004220
4 short 2nd metacarpal 55 31 occasional (7.5%) Occasional (29-5%) HP:0010038
5 type a2 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0009372
6 aplasia/hypoplasia of the middle phalanx of the 2nd finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0009568
7 short stature 31 HP:0004322
8 hallux valgus 31 HP:0001822
9 short hallux 31 HP:0010109
10 2-3 toe syndactyly 31 HP:0004691
11 short 2nd finger 31 HP:0009536
12 short middle phalanx of finger 55 Occasional (29-5%)
13 radial deviation of the 2nd finger 31 HP:0009467
14 broad hallux 31 HP:0010055
15 medially deviated second toe 31 HP:0008096
16 aplasia/hypoplasia of the middle phalanx of the 5th finger 31 HP:0009161
17 triangular shaped middle phalanx of the 5th finger 31 HP:0009182
18 bracket epiphysis of the middle phalanx of the 5th finger 31 HP:0009204
19 ulnar deviation of the 2nd finger 31 HP:0009464
20 bracket epiphysis of the middle phalanx of the 2nd finger 31 HP:0009514
21 triangular shaped middle phalanx of the 2nd finger 31 HP:0009575
22 aplasia/hypoplasia of the middle phalanges of the toes 31 HP:0010194

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.35 BMPR1B
2 Decreased substrate adherent cell growth GR00193-A-2 9.35 BMPR1A
3 Decreased substrate adherent cell growth GR00193-A-3 9.35 BMPR1A
4 Decreased substrate adherent cell growth GR00193-A-4 9.35 BMPR1B BMPR1A
5 Increased cell viability after pRB stimulation GR00230-A-1 8.62 BMPR1A BMPR1B

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

43
# 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 BMP2 BMPR1A BMPR1B GDF5
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:

# Genetic test Affiliating Genes
1 Brachydactyly Type A2 28 BMP2 BMPR1B GDF5

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

38
Bone

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

# Title Authors Year
1
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). ( 29129813 )
2018
2
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560 )
2014
3
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. ( 21357617 )
2011
4
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. ( 19327734 )
2009
5
Brachydactyly type A2 associated with a defect in proGDF5 processing. ( 18203755 )
2008
6
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. ( 16014698 )
2006
7
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. ( 16957682 )
2006
8
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. ( 16127465 )
2005
9
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:

71
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Ile200Lys VAR_023819 rs121434417
2 BMPR1B p.Arg486Trp VAR_023820 rs121434418
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
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh37 Chromosome 20, 34021891: 34021891
2 BMP2 BMP2, 2.1-KB DUP, +110 KB duplication Pathogenic
3 GDF5 NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln) single nucleotide variant Pathogenic rs397514668 GRCh37 Chromosome 20, 34022074: 34022074
4 BMPR1B NM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys) single nucleotide variant Pathogenic rs121434417 GRCh37 Chromosome 4, 96051026: 96051026
5 BMPR1B NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic rs121434418 GRCh37 Chromosome 4, 96075771: 96075771
6 BMPR1B NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln) single nucleotide variant Pathogenic rs121434419 GRCh37 Chromosome 4, 96075772: 96075772
7 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 96051067: 96051067

Copy number variations for Brachydactyly, Type A2 from CNVD:

7
# 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 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 11.69 BMPR1A BMPR1B
9 11.68 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:

# 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)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II 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 cell development GO:0048468 9.57 BMP2 GDF5
13 signal transduction by protein phosphorylation GO:0023014 9.56 BMPR1A BMPR1B
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 by RNA polymerase II 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:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.32 BMP2 GDF5
2 transforming growth factor beta receptor binding GO:0005160 9.26 BMP2 GDF5
3 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.16 BMPR1A BMPR1B
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1A BMPR1B
5 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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