BDA2
MCID: BRC079
MIFTS: 46

Brachydactyly, Type A2 (BDA2)

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

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 58 13 56 41 74
Brachydactyly Type A2 12 77 54 60 45 15
Mohr-Wriedt Type Brachydactyly 58 12 54 76
Bda2 58 12 54 76
Brachymesophalangy Ii 58 12 76
Type A2 Brachydactyly 30 6
Brachydactyly, Mohr-Wriedt Type 60
Brachymesophalangy Type 2 54
Brachymesophalangy 2 54
Brachydactyly A2 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type a2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brachydactyly, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110965
OMIM 58 112600
MESH via Orphanet 46 C537089
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1832702
Orphanet 60 ORPHA93396
MedGen 43 C1832702
UMLS 74 C1832702

Summaries for Brachydactyly, Type A2

NIH Rare Diseases : 54 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.

MalaCards based summary : Brachydactyly, Type A2, also known as brachydactyly type a2, is related to fibular hypoplasia and complex brachydactyly and brachydactyly. An important gene associated with Brachydactyly, Type A2 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways are Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, heart and lymph node, and related phenotypes are type a2 brachydactyly and short foot

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 : 58 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 : 76 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 : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

Related Diseases for Brachydactyly, Type A2

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 fibular hypoplasia and complex brachydactyly 30.5 BMPR1B GDF5 NOG
2 brachydactyly 30.4 BMP2 BMPR1B GDF5 IHH NOG
3 brachydactyly, type c 30.2 BMPR1B GDF5 NOG
4 brachydactyly, type a2, with microcephaly 12.4
5 brachydactyly, type a4 11.6
6 brachydactyly type a7 11.3
7 acromesomelic dysplasia 10.3 BMPR1B GDF5
8 acromesomelic dysplasia, hunter-thompson type 10.3 BMPR1B GDF5
9 chondrodysplasia, grebe type 10.3 BMPR1B GDF5
10 synostoses, tarsal, carpal, and digital 10.3 GDF5 NOG
11 brachydactyly, type b2 10.2 GDF5 NOG
12 synovial chondromatosis 10.2 BMP2 NOG
13 osteochondroma 10.2 BMP2 BMPR1B
14 osseous heteroplasia, progressive 10.2 BMP2 NOG
15 degenerative disc disease 10.2 BMP2 GDF5
16 cerebral amyloid angiopathy, itm2b-related, 2 10.1 FURIN ITM2B
17 brachydactyly, type b1 10.1 IHH NOG
18 fibrodysplasia ossificans progressiva 10.1 BMPR1A NOG
19 brachydactyly, type a1 10.1 BMPR1B GDF5 IHH
20 cerebral amyloid angiopathy, itm2b-related, 1 10.1 FURIN ITM2B
21 otosclerosis 10.1 BMP2 NOG
22 juvenile polyposis syndrome 10.0 BMP2 BMPR1A
23 squamous cell papilloma 10.0 BMP2 CYP2E1
24 multiple synostoses syndrome 2 10.0
25 symphalangism, proximal, 1b 10.0
26 frozen shoulder 10.0 GDF5 MMP3
27 spondylolisthesis 9.9 BMP2 GDF5 MMP3
28 proximal symphalangism 9.9 BMPR1B GDF5 NOG PAEP
29 bone deterioration disease 9.9 BMP2 GDF5 MMP3
30 bone structure disease 9.9 BMP2 GDF5 MMP3
31 multiple synostoses syndrome 9.7 BMPR1A BMPR1B GDF5 NOG PAEP
32 lymph node disease 9.5 MMP3 SDHC

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



Diseases related to Brachydactyly, Type A2

Symptoms & Phenotypes for Brachydactyly, Type A2

Human phenotypes related to Brachydactyly, Type A2:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type a2 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0009372
2 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
3 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
4 short middle phalanx of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004220
5 short 2nd metacarpal 60 33 occasional (7.5%) Occasional (29-5%) HP:0010038
6 aplasia/hypoplasia of the middle phalanx of the 2nd finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009568
7 hallux valgus 33 HP:0001822
8 short hallux 33 HP:0010109
9 2-3 toe syndactyly 33 HP:0004691
10 short 2nd finger 33 HP:0009536
11 short middle phalanx of finger 60 Occasional (29-5%)
12 radial deviation of the 2nd finger 33 HP:0009467
13 broad hallux 33 HP:0010055
14 medially deviated second toe 33 HP:0008096
15 aplasia/hypoplasia of the middle phalanx of the 5th finger 33 HP:0009161
16 triangular shaped middle phalanx of the 5th finger 33 HP:0009182
17 ulnar deviation of the 2nd finger 33 HP:0009464
18 triangular shaped middle phalanx of the 2nd finger 33 HP:0009575

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 BMP2 BMPR1A BMPR1B CYP2E1 FURIN GDF5
2 embryo MP:0005380 9.8 BMP2 BMPR1A BMPR1B FURIN IHH NOG
3 limbs/digits/tail MP:0005371 9.8 BMP2 BMPR1A BMPR1B FURIN GDF5 IHH
4 craniofacial MP:0005382 9.77 BMP2 BMPR1A BMPR1B IHH NOG
5 nervous system MP:0003631 9.56 BMP2 BMPR1A BMPR1B FURIN IHH ITM2B
6 skeleton MP:0005390 9.23 BMP2 BMPR1A BMPR1B GDF5 IHH MMP3

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 Type A2 Brachydactyly 30 BMP2 BMPR1B GDF5

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

42
Bone, Heart, Lymph Node

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
10
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). ( 12121354 )
2002

Variations for Brachydactyly, Type A2

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

76
# 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 (show all 23)
# 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.599T> A (p.Ile200Lys) single nucleotide variant Pathogenic rs121434417 GRCh38 Chromosome 4, 95129875: 95129875
3 BMPR1B NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic rs121434418 GRCh37 Chromosome 4, 96075771: 96075771
4 BMPR1B NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp) single nucleotide variant Pathogenic rs121434418 GRCh38 Chromosome 4, 95154620: 95154620
5 BMPR1B NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln) single nucleotide variant Pathogenic rs121434419 GRCh37 Chromosome 4, 96075772: 96075772
6 BMPR1B NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln) single nucleotide variant Pathogenic rs121434419 GRCh38 Chromosome 4, 95154621: 95154621
7 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh37 Chromosome 20, 34021891: 34021891
8 GDF5 NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro) single nucleotide variant Pathogenic rs28936683 GRCh38 Chromosome 20, 35434093: 35434093
9 BMP2 BMP2, 2.1-KB DUP, +110 KB duplication Pathogenic
10 GDF5 NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln) single nucleotide variant Pathogenic rs397514668 GRCh37 Chromosome 20, 34022074: 34022074
11 GDF5 NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln) single nucleotide variant Pathogenic rs397514668 GRCh38 Chromosome 20, 35434276: 35434276
12 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh37 Chromosome 4, 96051132: 96051132
13 BMPR1B NM_001203.2(BMPR1B): c.705C> T (p.Thr235=) single nucleotide variant Benign/Likely benign rs56083112 GRCh38 Chromosome 4, 95129981: 95129981
14 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh37 Chromosome 4, 96075965: 96075965
15 BMPR1B NM_001203.2(BMPR1B): c.*141C> T single nucleotide variant Benign rs1434536 GRCh38 Chromosome 4, 95154814: 95154814
16 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh38 Chromosome 4, 95115738: 95115738
17 BMPR1B NM_001203.2(BMPR1B): c.300C> T (p.Asn100=) single nucleotide variant Likely benign rs140499888 GRCh37 Chromosome 4, 96036889: 96036889
18 BMPR1B NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs34970181 GRCh38 Chromosome 4, 95148783: 95148783
19 BMPR1B NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs34970181 GRCh37 Chromosome 4, 96069934: 96069934
20 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh37 Chromosome 4, 96045041: 96045041
21 BMPR1B NM_001203.2(BMPR1B): c.430T> C (p.Leu144=) single nucleotide variant Likely benign rs55980670 GRCh38 Chromosome 4, 95123890: 95123890
22 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic rs1553941890 GRCh38 Chromosome 4, 95129916: 95129916
23 BMPR1B NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser) single nucleotide variant Pathogenic rs1553941890 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

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 extracellular space GO:0005615 9.7 BMP2 FURIN GDF5 IHH ITM2B MMP3
2 extracellular region GO:0005576 9.23 BMP2 FURIN GDF5 IHH ITM2B MMP3
3 HFE-transferrin receptor complex GO:1990712 8.96 BMPR1A BMPR1B

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.85 BMP2 GDF5 IHH
2 in utero embryonic development GO:0001701 9.83 BMP2 BMPR1A IHH NOG
3 osteoblast differentiation GO:0001649 9.79 BMP2 IHH NOG
4 skeletal system development GO:0001501 9.78 BMP2 BMPR1B IHH NOG
5 positive regulation of epithelial cell proliferation GO:0050679 9.73 BMPR1A IHH NOG
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.73 BMPR1A BMPR1B FURIN GDF5
7 positive regulation of osteoblast differentiation GO:0045669 9.72 BMP2 BMPR1A BMPR1B
8 embryonic digit morphogenesis GO:0042733 9.71 BMPR1A IHH NOG
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.69 BMP2 BMPR1A GDF5
10 epithelial to mesenchymal transition GO:0001837 9.67 BMP2 NOG
11 dorsal/ventral pattern formation GO:0009953 9.67 BMPR1A BMPR1B NOG
12 collagen catabolic process GO:0030574 9.66 FURIN MMP3
13 mesoderm formation GO:0001707 9.65 BMPR1A NOG
14 endoderm development GO:0007492 9.65 BMPR1A NOG
15 pituitary gland development GO:0021983 9.65 BMPR1A NOG
16 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.64 BMP2 BMPR1A
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.64 BMPR1A IHH
18 positive regulation of chondrocyte differentiation GO:0032332 9.63 BMPR1B GDF5
19 positive regulation of bone mineralization GO:0030501 9.63 BMP2 BMPR1A BMPR1B
20 positive regulation of cartilage development GO:0061036 9.62 BMP2 BMPR1B
21 somite development GO:0061053 9.62 IHH NOG
22 pattern specification process GO:0007389 9.62 BMPR1A BMPR1B IHH NOG
23 hindlimb morphogenesis GO:0035137 9.61 BMPR1A GDF5
24 mesenchymal cell differentiation GO:0048762 9.6 BMP2 NOG
25 pharyngeal arch artery morphogenesis GO:0061626 9.59 BMPR1A NOG
26 proteoglycan metabolic process GO:0006029 9.58 BMP2 IHH
27 ventricular compact myocardium morphogenesis GO:0003223 9.58 BMPR1A NOG
28 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 BMPR1A BMPR1B GDF5
29 BMP signaling pathway involved in heart development GO:0061312 9.57 BMPR1A NOG
30 endocardial cushion morphogenesis GO:0003203 9.54 BMP2 BMPR1A NOG
31 cellular response to BMP stimulus GO:0071773 9.46 BMP2 BMPR1A BMPR1B NOG
32 chondrocyte differentiation GO:0002062 9.43 BMP2 BMPR1A BMPR1B
33 BMP signaling pathway GO:0030509 9.35 BMP2 BMPR1A BMPR1B GDF5 NOG
34 cartilage development GO:0051216 9.1 BMP2 BMPR1A BMPR1B GDF5 IHH NOG
35 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 BMP2 BMPR1A BMPR1B IHH NOG
36 cell differentiation GO:0030154 10.03 BMP2 BMPR1A BMPR1B IHH NOG

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.32 BMP2 GDF5
2 transforming growth factor beta-activated receptor activity GO:0005024 9.26 BMPR1A BMPR1B
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR1A BMPR1B
4 transforming growth factor beta receptor activity, type I GO:0005025 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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