BDA2
MCID: BRC032
MIFTS: 34

Brachydactyly Type A2 (BDA2) malady

Bone, Fetal categories

Summaries for Brachydactyly Type A2

Sources:
47OMIM, 33MalaCards
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MalaCards: Brachydactyly Type A2, also known as brachydactyly, type a2, is related to brachydactyly and brachydactyly type b, and has symptoms including autosomal dominant inheritance, metacarpal anomalies/archibald's sign and short hand/brachydactyly. An important gene associated with Brachydactyly Type A2 is GDF5 (growth differentiation factor 5), and among its related pathways are mTOR Pathway and Apoptosis Pathway. The compounds glycosaminoglycan and threonine have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and limbs/digits/tail.

Description from OMIM:47 112600

Aliases & Classifications for Brachydactyly Type A2

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 45Novoseek, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
brachydactyly type a2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

brachydactyly type a2 43 20 22 49
brachydactyly, type a2 47 45 61
brachydactyly, mohr-wriedt type 49
mohr-wriedt type brachydactyly 43
brachymesophalangy type 2 43
brachymesophalangy 2 43
bda2 43


External Ids:

OMIM47 112600
MESH via Orphanet36 C537089
ICD10 via Orphanet26 Q73.8
UMLS via Orphanet62 C1832702

Related Diseases for Brachydactyly Type A2

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachydactyly Type A2:



Diseases related to brachydactyly type a2

Clinical Features for Brachydactyly Type A2

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

112600

Clinical synopsis from OMIM:

112600

Symptoms:

49 (show all 6)
  • autosomal dominant inheritance
  • metacarpal anomalies/archibald's sign
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • clinodactyly of fifth finger
  • terminal/third phalangeal bone of fingers hypoplasia

Drugs & Therapeutics for Brachydactyly Type A2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Brachydactyly Type A2:

id Genetic test Affiliating Genes
1 Brachydactyly Type A220 22 GDF5

Anatomical Context for Brachydactyly Type A2

Animal Models for Brachydactyly Type A2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Brachydactyly Type A2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2BMP2, BMPR1B, BMPR1A
2MP:00053718.1BMPR1B, BMP2, BMPR1A, GDF5
3MP:00053908.1BMPR1B, BMP2, BMPR1A, GDF5
4MP:00053898.0BMPR1A, BMP2, BMPR1B, GDF5
5MP:00107688.0BMPR1A, BMPR1B, BMP2, GDF5
6MP:00053787.9BMPR1A, BMP2, GDF5, BMPR1B

Publications for Brachydactyly Type A2

Genetic Variations for Brachydactyly Type A2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Brachydactyly Type A2:

63
id Symbol AA change Variation SNP ID
1BMPR1Bp.Ile200LysVAR_023819rs28939703
2BMPR1Bp.Arg486TrpVAR_023820rs28939704
3BMPR1Bp.Arg486GlnVAR_037967
4GDF5p.Leu441ProVAR_017408rs28936683
5GDF5p.Arg380GlnVAR_046743

Expression for genes affiliated with Brachydactyly Type A2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
60Tocris Bioscience, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 56SinoBiological
See all sources

Pathways related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3BMPR1A, BMPR1B
2
Hide members
9.3BMPR1A, BMPR1B
3
Hide members
9.1BMP2, GDF5
4
Hide members
9.1GDF5, BMP2
59.1BMPR1A, BMP2
6
Hide members
8.5BMPR1A, BMP2, BMPR1B
7
Hide members
8.5BMP2, BMPR1A, BMPR1B
8
Hide members
8.5BMPR1A, BMP2, BMPR1B
98.5BMPR1B, BMP2, BMPR1A
108.5BMPR1B, BMPR1A, BMP2
11
Hide members
8.0GDF5, BMPR1A, BMP2, BMPR1B
12
Hide members
8.0GDF5, BMPR1B, BMP2, BMPR1A
138.0BMPR1B, BMP2, BMPR1A, GDF5
148.0GDF5, BMP2, BMPR1A, BMPR1B
15
Hide members
8.0GDF5, BMPR1B, BMP2, BMPR1A
16
Hide members
8.0BMPR1A, GDF5, BMP2, BMPR1B
178.0BMP2, GDF5, BMPR1A, BMPR1B

Compounds for genes affiliated with Brachydactyly Type A2

Sources:
45Novoseek
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Compounds related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan459.1GDF5, BMP2
2threonine457.7GDF5, BMPR1A, BMP2, BMPR1B

GO Terms for genes affiliated with Brachydactyly Type A2

Sources:
16Gene Ontology
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Biological processes related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1hindlimb morphogenesisGO:0351379.6GDF5, BMPR1A
2cartilage developmentGO:0512169.4GDF5, BMPR1A
3transforming growth factor beta receptor signaling pathwayGO:0071799.3BMPR1A, GDF5
4positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.3BMP2, BMPR1A
5growthGO:0400079.2GDF5, BMP2
6odontogenesis of dentin-containing toothGO:0424759.2BMPR1A, BMP2
7in utero embryonic developmentGO:0017019.1BMP2, BMPR1A
8positive regulation of bone mineralizationGO:0305018.8BMPR1A, BMP2, BMPR1B
9positive regulation of osteoblast differentiationGO:0456698.7BMPR1B, BMP2, BMPR1A
10skeletal system developmentGO:0015018.7BMPR1B, BMP2
11BMP signaling pathwayGO:0305098.7BMP2, BMPR1B, BMPR1A
12protein phosphorylationGO:0064688.7BMPR1A, BMP2, BMPR1B

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.2BMPR1A, BMPR1B
2cytokine activityGO:0051259.1GDF5, BMP2
3growth factor activityGO:0080838.8GDF5, BMP2
4SMAD bindingGO:0463328.5BMPR1A, BMP2, BMPR1B

Products for genes affiliated with Brachydactyly Type A2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type A2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet