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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 50 12 48 66
Brachydactyly Type A2 46 23 52
Bda2 46 23 68
Mohr-Wriedt Type Brachydactyly 46 68
Brachydactyly A2 68 25
 
Brachydactyly, Mohr-Wriedt Type 52
Brachymesophalangy Type 2 46
Brachymesophalangy Ii 68
Brachymesophalangy 2 46

Characteristics:

Orphanet epidemiological data:

52
brachydactyly type a2:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
brachydactyly, type a2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 112600
Orphanet52 ORPHA93396
ICD10 via Orphanet29 Q73.8
MESH via Orphanet38 C537089
UMLS via Orphanet67 C1832702
MedGen35 C1832702
MeSH37 D059327

Summaries for Brachydactyly, Type A2

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UniProtKB/Swiss-Prot:68 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, 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 BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways are Heart Development and Elastic fibre formation. Affiliated tissues include bone, and related mouse phenotypes are reproductive system and skeleton.

OMIM:50 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:

 52 (show all 7)
  • short foot
  • clinodactyly of the 5th finger
  • short middle phalanx of the 5th finger
  • short middle phalanx of finger
  • type a2 brachydactyly
  • aplasia/hypoplasia of the middle phalanx of the 2nd finger
  • short 2nd metacarpal

HPO human phenotypes related to Brachydactyly, Type A2:

(show all 23)
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 brachydactyly syndrome HP:0001156
6 hallux valgus HP:0001822
7 clinodactyly of the 5th finger HP:0004209
8 short middle phalanx of the 5th finger HP:0004220
9 short stature HP:0004322
10 2-3 toe syndactyly HP:0004691
11 medially deviated second toe HP:0008096
12 aplasia/hypoplasia of the middle phalanx of the 5th finger HP:0009161
13 triangular shaped middle phalanx of the 5th finger HP:0009182
14 bracket epiphysis of the middle phalanx of the 5th finger HP:0009204
15 ulnar deviation of the 2nd finger HP:0009464
16 radial deviation of the 2nd finger HP:0009467
17 bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514
18 short 2nd finger HP:0009536
19 aplasia/hypoplasia of the middle phalanx of the 2nd finger HP:0009568
20 triangular shaped middle phalanx of the 2nd finger HP:0009575
21 broad hallux HP:0010055
22 short hallux HP:0010109
23 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 A225 23 BMP2, GDF5

Anatomical Context for Brachydactyly, Type A2

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MalaCards organs/tissues related to Brachydactyly, Type A2:

34
Bone

Animal Models for Brachydactyly, Type A2 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type A2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4BMP2, BMPR1A, BMPR1B, GDF5
2MP:00053908.4BMP2, BMPR1A, BMPR1B, GDF5
3MP:00053718.1BMP2, 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 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:

68
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 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

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
19.4BMP2, BMPR1A
2
Show member pathways
9.3BMP2, GDF5
39.3BMP2, GDF5
4
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
59.0BMP2, BMPR1A, BMPR1B
6
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
7
Show member pathways
9.0BMP2, BMPR1A, BMPR1B
89.0BMP2, BMPR1A, BMPR1B
9
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
10
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
118.4BMP2, BMPR1A, BMPR1B, GDF5
12
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
13
Show member pathways
8.4BMP2, BMPR1A, BMPR1B, GDF5
14
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 22)
idNameGO IDScoreTop Affiliating Genes
1signal transduction by protein phosphorylationGO:002301410.1BMPR1A, BMPR1B
2transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.0BMPR1B, GDF5
3endocardial cushion morphogenesisGO:000320310.0BMP2, BMPR1A
4positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.0BMP2, BMPR1A
5positive regulation of chondrocyte differentiationGO:003233210.0BMPR1B, GDF5
6positive regulation of cell differentiationGO:00455979.9BMP2, BMPR1B
7hindlimb morphogenesisGO:00351379.9BMPR1A, GDF5
8positive regulation of cartilage developmentGO:00610369.9BMP2, BMPR1B
9SMAD protein signal transductionGO:00603959.8BMP2, GDF5
10growthGO:00400079.8BMP2, GDF5
11transforming growth factor beta receptor signaling pathwayGO:00071799.8BMPR1A, GDF5
12cellular response to growth factor stimulusGO:00713639.8BMP2, BMPR1B
13odontogenesis of dentin-containing toothGO:00424759.6BMP2, BMPR1A
14positive regulation of bone mineralizationGO:00305019.5BMP2, BMPR1A, BMPR1B
15dorsal/ventral pattern formationGO:00099539.5BMPR1A, BMPR1B
16positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.2BMP2, BMPR1A, GDF5
17BMP signaling pathwayGO:00305099.1BMP2, BMPR1A, BMPR1B
18cellular response to BMP stimulusGO:00717739.0BMP2, BMPR1A, BMPR1B
19positive regulation of neuron differentiationGO:00456669.0BMP2, GDF5
20positive regulation of osteoblast differentiationGO:00456699.0BMP2, BMPR1A, BMPR1B
21protein phosphorylationGO:00064688.9BMP2, BMPR1A, BMPR1B
22chondrocyte differentiationGO:00020628.7BMP2, BMPR1A, BMPR1B, GDF5

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

idNameGO IDScoreTop Affiliating Genes
1receptor signaling protein serine/threonine kinase activityGO:00047029.8BMPR1A, BMPR1B
2transmembrane receptor protein serine/threonine kinase activityGO:00046759.8BMPR1A, BMPR1B
3transforming growth factor beta receptor bindingGO:00051609.7BMP2, GDF5
4glycoprotein bindingGO:00019489.5BMPR1A, BMPR1B
5SMAD bindingGO:00463328.9BMP2, BMPR1A, BMPR1B

Sources for Brachydactyly, Type A2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet