BDA2
MCID: BRC032
MIFTS: 48

Brachydactyly Type A2 (BDA2) malady

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

Summaries for Brachydactyly Type A2

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48OMIM, 34MalaCards
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MalaCards: Brachydactyly Type A2, also known as brachydactyly, type a2, is related to brachydactyly and brachydactyly type c, and has symptoms including short hand/brachydactyly, autosomal dominant inheritance and clinodactyly of fifth finger. An important gene associated with Brachydactyly Type A2 is GDF5 (growth differentiation factor 5), and among its related pathways are Apoptosis Pathway and mTOR Pathway. The compounds manganese and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are embryogenesis and craniofacial.

Description from OMIM:48 112600

Aliases & Classifications for Brachydactyly Type A2

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 50Orphanet, 48OMIM, 46Novoseek, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
brachydactyly type a2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

brachydactyly type a2 44 21 23 50
brachydactyly, type a2 48 46 63
brachydactyly, mohr-wriedt type 50
mohr-wriedt type brachydactyly 44
brachymesophalangy type 2 44
brachymesophalangy 2 44
bda2 44


External Ids:

OMIM48 112600
MESH via Orphanet37 C537089
ICD10 via Orphanet27 Q73.8
UMLS via Orphanet64 C1832702

Related Diseases for Brachydactyly Type A2

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

112600

Clinical features from OMIM:

112600

Symptoms:

50
  • 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

Drugs & Therapeutics for Brachydactyly Type A2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Brachydactyly Type A2

Drug clinical trials:

Search ClinicalTrials for Brachydactyly Type A2

Search NIH Clinical Center for Brachydactyly Type A2

Search CenterWatch for Brachydactyly Type A2

Genetic Tests for Brachydactyly Type A2

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21GeneTests, 23GTR
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Genetic tests related to Brachydactyly Type A2:

id Genetic test Affiliating Genes
1 Brachydactyly Type A221 23 GDF5

Anatomical Context for Brachydactyly Type A2

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34MalaCards
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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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38MGI
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MGI Mouse Phenotypes related to Brachydactyly Type A2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5BMP2, BMPR1B, BMPR1A
2MP:00053828.4BMP2, BMPR1B, BMPR1A
3MP:00053718.1BMP2, BMPR1B, BMPR1A, GDF5
4MP:00053908.1GDF5, BMPR1A, BMPR1B, BMP2
5MP:00053898.1BMP2, BMPR1B, BMPR1A, GDF5
6MP:00053788.0GDF5, BMPR1A, BMPR1B, BMP2
7MP:00107687.7GDF5, BMPR1A, BMPR1B, BMP2

Publications for Brachydactyly Type A2

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53PubMed
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Articles related to Brachydactyly Type A2:

idTitleAuthorsYear
1
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
2
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (19327734)
2009
3
Brachydactyly type A2 associated with a defect in proGDF5 processing. (18203755)
2008
4
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (16014698)
2006
5
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
2006
6
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (16127465)
2005
7
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
2003

Variations for Brachydactyly Type A2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly Type A2:

65
id Symbol AA change Variation ID SNP ID
1BMPR1Bp.Ile200LysVAR_023819rs28939703
2BMPR1Bp.Arg486TrpVAR_023820rs28939704
3BMPR1Bp.Arg486GlnVAR_037967
4GDF5p.Leu441ProVAR_017408rs28936683
5GDF5p.Arg380GlnVAR_046743

Clinvar genetic disease variations for Brachydactyly Type A2:

1
id Gene Name Type Significance SNP ID Assembly Location
1BMP2BMP2, 2.1-KB DUP, +110 KBduplicationPathogenic
2GDF5NM_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
6GDF5NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachydactyly Type A2

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

Pathways for genes affiliated with Brachydactyly Type A2

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Sources:
51PathCards, 62Tocris Bioscience, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 58SinoBiological
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Pathways related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3BMPR1B, BMPR1A
2
Show member pathways
9.3BMPR1B, BMPR1A
3
Show member pathways
9.1BMP2, GDF5
4
Show member pathways
9.1BMP2, GDF5
5
Show member pathways
9.1GDF5, BMP2
6
Show member pathways
9.1BMP2, GDF5
79.1BMPR1A, BMP2
88.5BMPR1A, BMPR1B, BMP2
9
Show member pathways
8.5BMP2, BMPR1B, BMPR1A
10
Show member pathways
8.5BMP2, BMPR1B, BMPR1A
11
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
8.5BMP2, BMPR1B, BMPR1A
12
Show member pathways
8.5BMP2, BMPR1B, BMPR1A
13
Show member pathways
8.0GDF5, BMPR1A, BMPR1B, BMP2
148.0BMP2, BMPR1B, BMPR1A, GDF5
158.0GDF5, BMPR1A, BMPR1B, BMP2
16
Show member pathways
8.0GDF5, BMPR1A, BMPR1B, BMP2
17
Show member pathways
8.0GDF5, BMPR1A, BMPR1B, BMP2
18
Show member pathways
8.0GDF5, BMPR1A, BMPR1B, BMP2
19
Show member pathways
8.0BMP2, BMPR1B, BMPR1A, GDF5

Compounds for genes affiliated with Brachydactyly Type A2

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46Novoseek, 25HMDB
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Compounds related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1manganese46 2510.2BMPR1A, BMPR1B
2glycosaminoglycan469.1BMP2, GDF5
3tyrosine468.5BMP2, BMPR1B, GDF5
4serine468.2BMP2, BMPR1B, BMPR1A
5threonine468.1BMP2, BMPR1B, BMPR1A, GDF5

GO Terms for genes affiliated with Brachydactyly Type A2

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17Gene Ontology
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Biological processes related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hindlimb morphogenesisGO:0351379.7BMPR1A, GDF5
2transforming growth factor beta receptor signaling pathwayGO:0071799.5BMPR1A, GDF5
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.4BMPR1A, BMP2
4growthGO:0400079.3BMP2, GDF5
5odontogenesis of dentin-containing toothGO:0424759.3BMP2, BMPR1A
6positive regulation of neuron differentiationGO:0456669.3GDF5, BMP2
7in utero embryonic developmentGO:0017019.1BMP2, BMPR1A
8extracellular matrix organizationGO:0301989.1BMP2, GDF5
9skeletal system developmentGO:0015019.1BMPR1B, BMP2
10cell-cell signalingGO:0072679.0BMP2, GDF5
11positive regulation of bone mineralizationGO:0305018.8BMP2, BMPR1B, BMPR1A
12chondrocyte differentiationGO:0020628.8GDF5, BMPR1B, BMP2
13positive regulation of osteoblast differentiationGO:0456698.8BMP2, BMPR1B, BMPR1A
14BMP signaling pathwayGO:0305098.8BMPR1A, BMPR1B, BMP2
15protein phosphorylationGO:0064688.7BMP2, BMPR1B, BMPR1A
16inflammatory responseGO:0069548.7BMP2, BMPR1B

Molecular functions related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.4BMPR1B, BMPR1A
2growth factor activityGO:0080839.1BMP2, GDF5
3cytokine activityGO:0051259.0GDF5, BMP2
4protein serine/threonine kinase activityGO:0046749.0BMPR1B, BMPR1A
5SMAD bindingGO:0463328.6BMP2, BMPR1B, BMPR1A
6protein bindingGO:0055158.0BMP2, BMPR1B, BMPR1A, GDF5

Products for genes affiliated with Brachydactyly Type A2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type A2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet