BDA2
MCID: BRC032
MIFTS: 42

Brachydactyly Type A2 (BDA2) malady

Bone diseases, Fetal diseases categories

Summaries for Brachydactyly Type A2

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46OMIM, 32MalaCards
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MalaCards: Brachydactyly Type A2, also known as brachydactyly, type a2, is related to brachydactyly and brachydactyly type a4, 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 glycosaminoglycan and threonine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Description from OMIM:46 112600

Aliases & Classifications for Brachydactyly Type A2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brachydactyly type a2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

brachydactyly type a2 42 20 22 48
brachydactyly, type a2 46 44 60
brachydactyly, mohr-wriedt type 48
mohr-wriedt type brachydactyly 42
brachymesophalangy type 2 42
brachymesophalangy 2 42
bda2 42


External Ids:

OMIM46 112600
MESH via Orphanet35 C537089
ICD10 via Orphanet26 Q73.8
UMLS via Orphanet61 C1832702

Related Diseases for Brachydactyly Type A2

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

112600

Clinical synopsis from OMIM:

112600

Symptoms:

48
  • 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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Brachydactyly Type A2:

id Genetic test Affiliating Genes
1 Brachydactyly Type A220 22 GDF5

Anatomical Context for Brachydactyly Type A2

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32MalaCards
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MalaCards organs/tissues related to Brachydactyly Type A2:

32
Bone

Animal Models for Brachydactyly Type A2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brachydactyly Type A2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2BMPR1B, BMP2, BMPR1A
2MP:00053718.1GDF5, BMPR1A, BMP2, BMPR1B
3MP:00053908.1BMPR1B, BMP2, BMPR1A, GDF5
4MP:00053898.0BMPR1B, BMP2, BMPR1A, GDF5
5MP:00107688.0GDF5, BMPR1A, BMP2, BMPR1B
6MP:00053787.9GDF5, BMPR1A, BMP2, BMPR1B

Publications for Brachydactyly Type A2

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Genetic Variations for Brachydactyly Type A2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Brachydactyly Type A2:

62
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene 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:
59Tocris Bioscience, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 29KEGG, 55SinoBiological
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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
9.3BMPR1B, BMPR1A
3
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9.1GDF5, BMP2
4
Hide members
9.1GDF5, BMP2
59.1BMPR1A, BMP2
6
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8.5BMPR1A, BMP2, BMPR1B
7
Hide members
8.5BMPR1B, BMP2, BMPR1A
8
Hide members
8.5BMPR1B, BMP2, BMPR1A
98.5BMPR1A, BMP2, BMPR1B
108.5BMPR1A, BMP2, BMPR1B
11
Hide members
8.0BMPR1B, BMP2, BMPR1A, GDF5
12
Hide members
8.0GDF5, BMPR1A, BMP2, BMPR1B
138.0BMPR1B, BMP2, BMPR1A, GDF5
148.0BMPR1B, BMP2, BMPR1A, GDF5
15
Hide members
8.0BMPR1B, BMP2, BMPR1A, GDF5
16
Hide members
8.0BMPR1B, BMP2, BMPR1A, GDF5
178.0GDF5, BMPR1A, BMP2, BMPR1B

Compounds for genes affiliated with Brachydactyly Type A2

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Sources:
44Novoseek
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Compounds related to Brachydactyly Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan449.1GDF5, BMP2
2threonine447.7GDF5, BMPR1A, BMP2, BMPR1B

GO Terms for genes affiliated with Brachydactyly Type A2

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type A2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet