MCID: BRC079
MIFTS: 50

Brachydactyly, Type A2 malady

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

Summaries for Brachydactyly, Type A2

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OMIM:47 Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the... (112600) more...

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, short toe and clinodactyly of the 5th 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.

Aliases & Classifications for Brachydactyly, Type A2

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Brachydactyly, Type A2, Aliases & Descriptions:

Name: Brachydactyly, Type A2 47 11 45
Brachydactyly Type A2 43 22 49 24
Brachydactyly, Mohr-Wriedt Type 43 49
Mohr-Wriedt Type Brachydactyly 43
 
Brachymesophalangy Type 2 43
Brachymesophalangy 2 43
Bda2 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
brachydactyly type a2:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 112600
Orphanet49 93396
ICD10 via Orphanet28 Q73.8
UMLS via Orphanet63 C1832702
MESH via Orphanet36 C537089

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:

 49
  • 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 23)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 short toe typical (50%) HP:0001831
3 clinodactyly of the 5th finger typical (50%) HP:0004209
4 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
5 short distal phalanx of finger occasional (7.5%) HP:0009882
6 autosomal dominant inheritance HP:0000006
7 hallux valgus HP:0001822
8 clinodactyly of the 5th finger HP:0004209
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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Drug clinical trials:

Search ClinicalTrials for Brachydactyly, Type A2

Search 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 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:

37
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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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
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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UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A2:

64
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:

7
id Gene Variation 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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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/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 signaling38
BMP signalling and regulation38
BMP Signalling Pathway38
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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Sources:
45Novoseek, 26HMDB
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Compounds related to Brachydactyly, Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1manganese45 2610.2BMPR1A, BMPR1B
2glycosaminoglycan459.1GDF5, BMP2
3tyrosine458.5GDF5, BMPR1B, BMP2
4serine458.2BMPR1A, BMPR1B, BMP2
5threonine458.1BMP2, BMPR1B, BMPR1A, GDF5

GO Terms for genes affiliated with Brachydactyly, Type A2

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Biological processes related to Brachydactyly, Type A2 according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hindlimb morphogenesisGO:00351379.7GDF5, BMPR1A
2transforming growth factor beta receptor signaling pathwayGO:00071799.5BMPR1A, GDF5
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4BMP2, BMPR1A
4growthGO:00400079.3GDF5, BMP2
5odontogenesis of dentin-containing toothGO:00424759.3BMP2, BMPR1A
6positive regulation of neuron differentiationGO:00456669.3BMP2, GDF5
7in utero embryonic developmentGO:00017019.1BMPR1A, BMP2
8extracellular matrix organizationGO:00301989.1GDF5, BMP2
9skeletal system developmentGO:00015019.1BMP2, BMPR1B
10cell-cell signalingGO:00072679.0GDF5, BMP2
11positive regulation of bone mineralizationGO:00305018.8BMP2, BMPR1B, BMPR1A
12chondrocyte differentiationGO:00020628.8GDF5, BMP2, BMPR1B
13positive regulation of osteoblast differentiationGO:00456698.8BMPR1A, BMP2, BMPR1B
14BMP signaling pathwayGO:00305098.8BMPR1B, BMP2, BMPR1A
15protein phosphorylationGO:00064688.7BMP2, BMPR1B, BMPR1A
16inflammatory responseGO:00069548.7BMP2, BMPR1B

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:00046759.4BMPR1B, BMPR1A
2growth factor activityGO:00080839.1GDF5, BMP2
3cytokine activityGO:00051259.0BMP2, GDF5
4protein serine/threonine kinase activityGO:00046749.0BMPR1B, BMPR1A
5SMAD bindingGO:00463328.6BMPR1A, BMPR1B, BMP2
6protein bindingGO:00055158.0GDF5, BMPR1A, BMP2, BMPR1B

Products for genes affiliated with Brachydactyly, Type A2

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachydactyly, Type A2

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet