MCID: BRC079
MIFTS: 45

Brachydactyly, Type A2 malady

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

Aliases & Classifications for Brachydactyly, Type A2

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 52 12 50 68
Brachydactyly Type A2 48 24 54
Bda2 48 24 70
Mohr-Wriedt Type Brachydactyly 48 70
Brachydactyly A2 70 27
 
Brachydactyly, Mohr-Wriedt Type 54
Brachymesophalangy Type 2 48
Brachymesophalangy Ii 70
Brachymesophalangy 2 48

Characteristics:

Orphanet epidemiological data:

54
brachydactyly type a2:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
brachydactyly, type a2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 112600
Orphanet54 ORPHA93396
MESH via Orphanet40 C537089
UMLS via Orphanet69 C1832702
ICD10 via Orphanet31 Q73.8
MedGen37 C1832702
MeSH39 D059327

Summaries for Brachydactyly, Type A2

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NIH Rare Diseases:48 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 brachydactyly syndrome, clinodactyly of the 5th finger and abnormality of the metacarpal bones. An important gene associated with Brachydactyly, Type A2 is GDF5 (Growth Differentiation Factor 5), and among its related pathways are mTOR Pathway and Elastic fibre formation. Affiliated tissues include bone, and related mouse phenotypes are Decreased substrate adherent cell growth and Increased cell viability after pRB stimulation.

OMIM:52 Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the... (112600) more...

UniProtKB/Swiss-Prot:70 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

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Graphical network of diseases related to Brachydactyly, Type A2:



Diseases related to brachydactyly, type a2

Symptoms & Phenotypes for Brachydactyly, Type A2

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Symptoms by clinical synopsis from OMIM:

112600

Clinical features from OMIM:

112600

Human phenotypes related to Brachydactyly, Type A2:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome64 hallmark (90%) HP:0001156
2 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
3 abnormality of the metacarpal bones64 occasional (7.5%) HP:0001163
4 short distal phalanx of finger64 occasional (7.5%) HP:0009882
5 hallux valgus64 HP:0001822
6 short middle phalanx of the 5th finger64 54 Occasional (29-5%) HP:0004220
7 short stature64 HP:0004322
8 2-3 toe syndactyly64 HP:0004691
9 medially deviated second toe64 HP:0008096
10 aplasia/hypoplasia of the middle phalanx of the 5th finger64 HP:0009161
11 triangular shaped middle phalanx of the 5th finger64 HP:0009182
12 bracket epiphysis of the middle phalanx of the 5th finger64 HP:0009204
13 ulnar deviation of the 2nd finger64 HP:0009464
14 radial deviation of the 2nd finger64 HP:0009467
15 bracket epiphysis of the middle phalanx of the 2nd finger64 HP:0009514
16 short 2nd finger64 HP:0009536
17 aplasia/hypoplasia of the middle phalanx of the 2nd finger64 54 Occasional (29-5%) HP:0009568
18 triangular shaped middle phalanx of the 2nd finger64 HP:0009575
19 broad hallux64 HP:0010055
20 short hallux64 HP:0010109
21 aplasia/hypoplasia of the middle phalanges of the toes64 HP:0010194
22 short foot54 Frequent (79-30%)
23 short middle phalanx of finger54 Occasional (29-5%)
24 type a2 brachydactyly54 Very frequent (99-80%)
25 short 2nd metacarpal54 Occasional (29-5%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.1BMPR1A, BMPR1B
2GR00230-A-110.1BMPR1A, BMPR1B

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3BMP2, BMPR1A, BMPR1B
2MP:00053718.8BMP2, BMPR1A, BMPR1B, GDF5
3MP:00053898.7BMP2, BMPR1A, BMPR1B, GDF5
4MP:00053908.0BMP2, BMPR1A, BMPR1B, GDF5

Drugs & Therapeutics for Brachydactyly, Type A2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type A2

Genetic Tests for Brachydactyly, Type A2

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Genetic tests related to Brachydactyly, Type A2:

id Genetic test Affiliating Genes
1 Brachydactyly Type A227 24 BMP2, BMPR1B, GDF5

Anatomical Context for Brachydactyly, Type A2

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MalaCards organs/tissues related to Brachydactyly, Type A2:

36
Bone

Publications for Brachydactyly, Type A2

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Articles related to Brachydactyly, Type A2:

idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1BMPR1Bp.Ile200LysVAR_023819rs28939703
2BMPR1Bp.Arg486TrpVAR_023820rs28939704
3BMPR1Bp.Arg486GlnVAR_037967rs121434419
4GDF5p.Leu441ProVAR_017408rs28936683
5GDF5p.Arg380GlnVAR_046743

Clinvar genetic disease variations for Brachydactyly, Type A2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BMP2BMP2, 2.1-KB DUP, +110 KBduplicationPathogenicChr na, -1: -1
2GDF5NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln)SNVPathogenicrs397514668GRCh37Chr 20, 34022074: 34022074
3BMPR1BNM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys)SNVPathogenicrs121434417GRCh37Chr 4, 96051026: 96051026
4BMPR1BNM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp)SNVPathogenicrs121434418GRCh37Chr 4, 96075771: 96075771
5BMPR1BNM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln)SNVPathogenicrs121434419GRCh37Chr 4, 96075772: 96075772
6GDF5NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro)SNVPathogenicrs28936683GRCh37Chr 20, 34021891: 34021891

Copy number variations for Brachydactyly, Type A2 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11549282050000009000000DuplicationBMP2Brachydactyly type A2

Expression for genes affiliated with Brachydactyly, Type A2

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

Pathways for genes affiliated with Brachydactyly, Type A2

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3BMPR1A, BMPR1B
2
Show member pathways
9.1BMP2, GDF5
39.1BMP2, GDF5
49.1BMP2, BMPR1A
5
Show member pathways
8.5BMP2, BMPR1A, BMPR1B
6
Show member pathways
8.5BMP2, BMPR1A, BMPR1B
7
Show member pathways
8.5BMP2, BMPR1A, BMPR1B
88.5BMP2, BMPR1A, BMPR1B
98.5BMP2, BMPR1A, BMPR1B
10
Show member pathways
8.0BMP2, BMPR1A, BMPR1B, GDF5
11
Show member pathways
8.0BMP2, BMPR1A, BMPR1B, GDF5
12
Show member pathways
8.0BMP2, BMPR1A, BMPR1B, GDF5
138.0BMP2, BMPR1A, BMPR1B, GDF5
14
Show member pathways
8.0BMP2, BMPR1A, BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly, Type A2

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

idNameGO IDScoreTop Affiliating Genes
1HFE-transferrin receptor complexGO:19907129.3BMPR1A, BMPR1B

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1hindlimb morphogenesisGO:003513710.2BMPR1A, GDF5
2dorsal/ventral pattern formationGO:000995310.1BMPR1A, BMPR1B
3positive regulation of chondrocyte differentiationGO:003233210.1BMPR1B, GDF5
4signal transduction by protein phosphorylationGO:002301410.0BMPR1A, BMPR1B
5growthGO:00400079.9BMP2, GDF5
6endocardial cushion morphogenesisGO:00032039.9BMP2, BMPR1A
7odontogenesis of dentin-containing toothGO:00424759.9BMP2, BMPR1A
8positive regulation of neuron differentiationGO:00456669.9BMP2, GDF5
9positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:19028959.9BMP2, BMPR1A
10cellular response to growth factor stimulusGO:00713639.8BMP2, BMPR1B
11transforming growth factor beta receptor signaling pathwayGO:00071799.8BMPR1A, GDF5
12positive regulation of cartilage developmentGO:00610369.8BMP2, BMPR1B
13positive regulation of cell differentiationGO:00455979.8BMP2, BMPR1B
14SMAD protein signal transductionGO:00603959.7BMP2, GDF5
15skeletal system developmentGO:00015019.6BMP2, BMPR1B
16positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4BMP2, BMPR1A, GDF5
17transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.3BMPR1B, GDF5
18BMP signaling pathwayGO:00305099.3BMP2, BMPR1A, BMPR1B
19cellular response to BMP stimulusGO:00717739.3BMP2, BMPR1A, BMPR1B
20positive regulation of bone mineralizationGO:00305019.3BMP2, BMPR1A, BMPR1B
21positive regulation of osteoblast differentiationGO:00456699.3BMP2, BMPR1A, BMPR1B
22positive regulation of transcription from RNA polymerase II promoterGO:00459449.2BMP2, BMPR1A, BMPR1B
23protein phosphorylationGO:00064689.1BMP2, BMPR1A, BMPR1B
24chondrocyte differentiationGO:00020628.7BMP2, BMPR1A, BMPR1B, GDF5

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.9BMPR1A, BMPR1B
2cytokine activityGO:00051259.8BMP2, GDF5
3growth factor activityGO:00080839.7BMP2, GDF5
4transforming growth factor beta receptor bindingGO:00051609.4BMP2, GDF5
5transmembrane receptor protein serine/threonine kinase activityGO:00046759.3BMPR1A, BMPR1B
6SMAD bindingGO:00463329.0BMP2, BMPR1A, BMPR1B

Sources for Brachydactyly, Type A2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet