MCID: BRC079
MIFTS: 44

Brachydactyly, Type A2 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Brachydactyly, Type A2

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Sources:
49OMIM, 11diseasecard, 47Novoseek, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 49 11 47 65
Brachydactyly Type A2 45 22 51 24
Bda2 45 22 67
Mohr-Wriedt Type Brachydactyly 45 67
Brachydactyly, Mohr-Wriedt Type 51
 
Brachymesophalangy Type 2 45
Brachymesophalangy Ii 67
Brachymesophalangy 2 45
Brachydactyly A2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brachydactyly type a2:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 112600
Orphanet51 93396
ICD10 via Orphanet28 Q73.8
MESH via Orphanet37 C537089
UMLS via Orphanet66 C1832702
MedGen34 C1832702
MeSH36 D059327

Summaries for Brachydactyly, Type A2

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Brachydactyly, Type A2, also known as brachydactyly type a2, is related to brachydactyly and brachydactyly, type c, 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 BMPR1B (Bone Morphogenetic Protein Receptor, Type IB), and among its related pathways are Heart Development and Elastic fibre formation. Affiliated tissues include bone, and related mouse phenotypes are skeleton and reproductive system.

OMIM:49 Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the... (112600) more...

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 for Brachydactyly, Type A2

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Symptoms by clinical synopsis from OMIM:

112600

Clinical features from OMIM:

112600

Symptoms:

 51
  • short hand/brachydactyly
  • autosomal dominant inheritance
  • clinodactyly of fifth finger
  • short foot/brachydactyly of toes
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia

HPO human phenotypes related to Brachydactyly, Type A2:

(show all 24)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 clinodactyly of the 5th finger typical (50%) HP:0004209
3 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
4 short distal phalanx of finger occasional (7.5%) HP:0009882
5 autosomal dominant inheritance HP:0000006
6 brachydactyly syndrome HP:0001156
7 hallux valgus HP:0001822
8 clinodactyly of the 5th finger HP:0004209
9 short middle phalanx of the 5th finger HP:0004220
10 short stature HP:0004322
11 2-3 toe syndactyly HP:0004691
12 medially deviated second toe HP:0008096
13 aplasia/hypoplasia of the middle phalanx of the 5th finger HP:0009161
14 triangular shaped middle phalanx of the 5th finger HP:0009182
15 bracket epiphysis of the middle phalanx of the 5th finger HP:0009204
16 ulnar deviation of the 2nd finger HP:0009464
17 radial deviation of the 2nd finger HP:0009467
18 bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514
19 short 2nd finger HP:0009536
20 aplasia/hypoplasia of the middle phalanx of the 2nd finger HP:0009568
21 triangular shaped middle phalanx of the 2nd finger HP:0009575
22 broad hallux HP:0010055
23 short hallux HP:0010109
24 aplasia/hypoplasia of the middle phalanges of the toes HP:0010194

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 A222 24 BMP2, GDF5

Anatomical Context for Brachydactyly, Type A2

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MalaCards organs/tissues related to Brachydactyly, Type A2:

33
Bone

Animal Models for Brachydactyly, Type A2 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type A2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4BMP2, BMPR1A, BMPR1B, GDF5
2MP:00053898.4BMP2, BMPR1A, BMPR1B, GDF5
3MP:00053718.3BMP2, BMPR1A, BMPR1B, GDF5

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 mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (16014698)
2006
6
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
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:

67
id Symbol AA change Variation ID SNP ID
1BMPR1Bp.Ile200LysVAR_023819rs28939703
2BMPR1Bp.Arg486TrpVAR_023820rs28939704
3BMPR1Bp.Arg486GlnVAR_037967
4GDF5p.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 KBduplicationPathogenic
2NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln)single nucleotide variantPathogenicrs397514668GRCh37Chr 20, 34022074: 34022074
3BMPR1BNM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys)single nucleotide variantPathogenicrs121434417GRCh37Chr 4, 96051026: 96051026
4BMPR1BNM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp)single nucleotide variantPathogenicrs121434418GRCh37Chr 4, 96075771: 96075771
5BMPR1BNM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln)single nucleotide variantPathogenicrs121434419GRCh37Chr 4, 96075772: 96075772
6NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro)single nucleotide variantPathogenicrs28936683GRCh37Chr 20, 34021891: 34021891

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 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4BMP2, BMPR1A
2
Show member pathways
9.3BMP2, GDF5
3
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
4
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
59.0BMP2, BMPR1A, BMPR1B
69.0BMP2, BMPR1A, BMPR1B
7
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
8
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
9
TGF-beta Signaling Pathway (sino)
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
108.4BMP2, BMPR1A, BMPR1B, GDF5
11
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
12
TGF-beta signaling pathway (KEGG)
Show member pathways
8.4BMP2, 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:19907129.5BMPR1A, BMPR1B

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1dorsal/ventral pattern formationGO:000995310.0BMPR1A, BMPR1B
2signal transduction by protein phosphorylationGO:002301410.0BMPR1A, BMPR1B
3hindlimb morphogenesisGO:00351379.9BMPR1A, GDF5
4transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.9BMPR1B, GDF5
5growthGO:00400079.8BMP2, GDF5
6positive regulation of cell differentiationGO:00455979.8BMP2, BMPR1B
7positive regulation of cartilage developmentGO:00610369.8BMP2, BMPR1B
8SMAD protein signal transductionGO:00603959.7BMP2, GDF5
9odontogenesis of dentin-containing toothGO:00424759.7BMP2, BMPR1A
10cell developmentGO:00484689.6BMP2, GDF5
11positive regulation of bone mineralizationGO:00305019.4BMP2, BMPR1A, BMPR1B
12positive regulation of neuron differentiationGO:00456669.3BMP2, GDF5
13positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMP2, BMPR1A, GDF5
14positive regulation of osteoblast differentiationGO:00456699.3BMP2, BMPR1A, BMPR1B
15protein phosphorylationGO:00064689.1BMP2, BMPR1A, BMPR1B
16transforming growth factor beta receptor signaling pathwayGO:00071799.0BMPR1A, GDF5
17cellular response to BMP stimulusGO:00717738.9BMP2, BMPR1A, BMPR1B
18BMP signaling pathwayGO:00305098.6BMP2, BMPR1A, BMPR1B, GDF5
19chondrocyte differentiationGO:00020628.4BMP2, BMPR1A, BMPR1B, GDF5

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:00046759.7BMPR1A, BMPR1B
2receptor signaling protein serine/threonine kinase activityGO:00047029.6BMPR1A, BMPR1B
3transforming growth factor beta receptor bindingGO:00051609.5BMP2, GDF5
4glycoprotein bindingGO:00019489.4BMPR1A, BMPR1B
5SMAD bindingGO:00463329.0BMP2, BMPR1A, BMPR1B

Sources for Brachydactyly, Type A2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet