MCID: BRC079
MIFTS: 46

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:
49OMIM, 11diseasecard, 47Novoseek, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 49 11 47 65
Brachydactyly Type A2 45 22 51
Bda2 45 22 67
Mohr-Wriedt Type Brachydactyly 45 67
Brachydactyly A2 67 24
 
Brachydactyly, Mohr-Wriedt Type 51
Brachymesophalangy Type 2 45
Brachymesophalangy Ii 67
Brachymesophalangy 2 45

Characteristics:

Orphanet epidemiological data:

51
brachydactyly type a2:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
brachydactyly, type a2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 112600
Orphanet51 93396
ICD10 via Orphanet28 Q73.8
MESH via Orphanet37 C537089
UMLS via Orphanet66 C1832702
MedGen34 C1832702
MeSH36 D059327
UMLS65 C1832702

Summaries for Brachydactyly, Type A2

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UniProtKB/Swiss-Prot:67 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 pancreatic cancer, and has symptoms including brachydactyly syndrome, clinodactyly of the 5th finger and short distal phalanx of finger. 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 skin, and related mouse phenotypes are limbs/digits/tail and reproductive system.

OMIM:49 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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Diseases in the Brachydactyly family:

Brachydactyly, Type D Brachydactyly, Type A1
brachydactyly, type a2 Brachydactyly, Type A1, B
Brachydactyly, Type B1 Brachydactyly, Type E2
Brachydactyly, Type B2 Brachydactyly, Type C
Brachydactyly, Type A1, C Brachydactyly, Type E
Brachydactyly Type A3 Brachydactyly Type A4
Brachydactyly Type A5 Brachydactyly Type A6
Brachydactyly Type A7 Hoxd13-Related Brachydactyly
Brachydactyly of Toes

Diseases related to Brachydactyly, Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly type a411.4
2pancreatic cancer10.1
3hepatitis10.1
4sarcoma10.1
5bronchopneumonia10.1
6calciphylaxis10.1
7pancreatitis10.1
8neuropathy10.1
9ring chromosome y10.1BMPR1B, GDF5
10immunodeficiency, common variable, 1210.1BMPR1B, FAAH2
11chondrodysplasia, grebe type10.1BMPR1B, GDF5
12symphalangism, proximal, 1b10.1BMPR1B, GDF5
13brachydactyly, type a110.1BMPR1B, GDF5
14osteodysplasia familial anderson type10.0BMP2, BMPR1B
15syngnathia cleft palate10.0BMP2, GDF5
16mucocele of appendix9.9BMP2, GDF5
17ischemic bone disease9.9BMP2, GDF5
18dengue disease9.9BMP2, GDF5
19albright's hereditary osteodystrophy9.9BMPR1B, GDF5
20twin-to-twin transfusion syndrome9.9BMP2, BMPR1B
21bone resorption disease9.8BMP2, GDF5
22gummatous syphilis9.7BMPR1B, GDF5
23persistent mullerian duct syndrome9.7BMP2, BMPR1B, GDF5
24cone dystrophy9.6BMPR1A, BMPR1B, GDF5
25acromesomelic dysplasia, demirhan type8.9BMP2, BMPR1A, BMPR1B, FAAH2, GDF5

Graphical network of the top 20 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:

 51
  • 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 clinodactyly of the 5th finger typical (50%) HP:0004209
3 short distal phalanx of finger occasional (7.5%) HP:0009882
4 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
5 aplasia/hypoplasia of the middle phalanges of the toes HP:0010194
6 short hallux HP:0010109
7 broad hallux HP:0010055
8 triangular shaped middle phalanx of the 2nd finger HP:0009575
9 aplasia/hypoplasia of the middle phalanx of the 2nd finger HP:0009568
10 short 2nd finger HP:0009536
11 bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514
12 radial deviation of the 2nd finger HP:0009467
13 ulnar deviation of the 2nd finger HP:0009464
14 bracket epiphysis of the middle phalanx of the 5th finger HP:0009204
15 triangular shaped middle phalanx of the 5th finger HP:0009182
16 aplasia/hypoplasia of the middle phalanx of the 5th finger HP:0009161
17 medially deviated second toe HP:0008096
18 2-3 toe syndactyly HP:0004691
19 short stature HP:0004322
20 short middle phalanx of the 5th finger HP:0004220
21 clinodactyly of the 5th finger HP:0004209
22 hallux valgus HP:0001822
23 brachydactyly syndrome HP:0001156

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 A222 GDF5, BMP2

Anatomical Context for Brachydactyly, Type A2

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MalaCards organs/tissues related to Brachydactyly, Type A2:

33
Bone, Skin

Animal Models for Brachydactyly, Type A2 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type A2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5BMP2, BMPR1A, BMPR1B, GDF5
2MP:00053898.4BMP2, BMPR1A, BMPR1B, GDF5
3MP:00053908.4BMP2, BMPR1A, BMPR1B, GDF5

Publications for Brachydactyly, Type A2

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Articles related to Brachydactyly, Type A2:

idTitleAuthorsYear
1
Solitary parotid plexiform neurofibroma - diagnostic difficulty in a clinically unsuspected case. (25494144)
2014
2
Assessment of antibacterial activity of crude leaf and root extracts of Cassia alata against Neisseria gonorrhea. (25834492)
2014
3
Clinical and biological impact of TET2 mutations and expression in younger adult AML patients treated within the EORTC/GIMEMA AML-12 clinical trial. (24994606)
2014
4
Efficient intradermal delivery of superoxide dismutase using a combination of liposomes and iontophoresis for protection against UV-induced skin damage. (22687417)
2012
5
Unilateral hydronephrosis and hydroureter by foreign body in urinary bladder: a case report. (22690106)
2012
6
Common variants at 12q15 and 12q24 are associated with infant head circumference. (22504419)
2012
7
Primary spontaneous pneumothorax in Arabs: does its frequency differ from elsewhere? (10880782)
2000
8
Comparison between different rabbit antisera against the glucocorticoid receptor. (6621034)
1983

Variations for Brachydactyly, Type A2

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

67
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:

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

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
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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Biological processes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cartilage developmentGO:006103610.1BMP2, BMPR1B
2positive regulation of chondrocyte differentiationGO:003233210.0BMPR1B, GDF5
3signal transduction by protein phosphorylationGO:00230149.9BMPR1A, BMPR1B
4dorsal/ventral pattern formationGO:00099539.9BMPR1A, BMPR1B
5positive regulation of cell differentiationGO:00455979.8BMP2, BMPR1B
6cellular response to BMP stimulusGO:00717739.8BMPR1A, BMPR1B
7in utero embryonic developmentGO:00017019.8BMP2, BMPR1A
8heart developmentGO:00075079.7BMP2, BMPR1A
9SMAD protein signal transductionGO:00603959.7BMP2, GDF5
10odontogenesis of dentin-containing toothGO:00424759.6BMP2, BMPR1A
11growthGO:00400079.6BMP2, GDF5
12cell-cell signalingGO:00072679.2BMP2, GDF5
13extracellular matrix organizationGO:00301989.0BMP2, GDF5
14protein phosphorylationGO:00064689.0BMP2, BMPR1A, BMPR1B
15chondrocyte differentiationGO:00020628.8BMP2, BMPR1A, BMPR1B, GDF5
16BMP signaling pathwayGO:00305098.7BMP2, BMPR1A, BMPR1B, GDF5

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.0BMP2, BMPR1A, BMPR1B

Sources for Brachydactyly, Type A2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet