MCID: BRC081
MIFTS: 42

Brachydactyly, Type C malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Brachydactyly, Type C

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Sources:
49OMIM, 11diseasecard, 47Novoseek, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 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 C:

Name: Brachydactyly, Type C 49 11 47
Brachydactyly Haws Type 45 22 67
Brachydactyly Type C 45 22 51
 
Bdc 45 22 67
Brachydactyly C 67 24
Collecting Duct Carcinoma of the Kidney 65

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
brachydactyly, type c:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 113100
Orphanet51 93384
ICD10 via Orphanet28 Q73.8
MESH via Orphanet37 C537093
UMLS via Orphanet66 C1300268, C1862103
MedGen34 C1862103
MeSH36 D059327

Summaries for Brachydactyly, Type C

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NIH Rare Diseases:45 Brachydactyly type c is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. the bones of the ring finger are typically normal. other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). brachydactyly type c is typically caused by changes (mutations) in the gdf5 gene and is inherited in an autosomal dominant manner. treatment varies based on the severity of the condition. physical therapy and/or plastic surgery may be indicated if the condition affects hand function. last updated: 11/4/2015

MalaCards based summary: Brachydactyly, Type C, also known as brachydactyly haws type, is related to bazex syndrome and collecting duct carcinoma, and has symptoms including ulnar deviation of finger, abnormality of the metacarpal bones and brachydactyly syndrome. An important gene associated with Brachydactyly, Type C is GDF5 (Growth Differentiation Factor 5), and among its related pathways are Hippo signaling pathway and . Affiliated tissues include bone, kidney and brain, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Brachydactyly C: 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. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others.

Description from OMIM:49 113100

Related Diseases for Brachydactyly, Type C

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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 C via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1bazex syndrome11.5
2collecting duct carcinoma11.5
3prostate cancer10.1
4asthma10.1
5breast cancer10.1
6cystic fibrosis10.1
7digeorge syndrome10.1
8arthritis10.1
9sarcoma10.1
10gestational diabetes10.1
11ehlers-danlos syndrome10.1
12prostatitis10.1
13severe acute respiratory syndrome10.1
14tuberculosis10.1
15conjunctivochalasis10.1
16reactive arthritis10.1
17thyroiditis10.1
18sporadic breast cancer10.1
19periodontitis10.1
20lymphomatoid papulosis10.1
21mycobacterium abscessus10.1
22cataract10.0
23chronic lymphocytic leukemia10.0
24leukemia10.0
25pneumonia10.0
26encephalomyopathy10.0
27mitochondrial neurogastrointestinal encephalomyopathy10.0
28ring chromosome y9.8BMPR1B, GDF5
29chondrodysplasia, grebe type9.8BMPR1B, GDF5
30symphalangism, proximal, 1b9.8BMPR1B, GDF5
31brachydactyly, type a19.8BMPR1B, GDF5
32acromesomelic dysplasia, demirhan type9.7BMPR1B, GDF5
33persistent mullerian duct syndrome9.7BMPR1B, GDF5
34gummatous syphilis9.7BMPR1B, GDF5
35albright's hereditary osteodystrophy9.6BMPR1B, GDF5
36cone dystrophy9.5BMPR1B, GDF5

Graphical network of the top 20 diseases related to Brachydactyly, Type C:



Diseases related to brachydactyly, type c

Symptoms for Brachydactyly, Type C

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Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

 51 (show all 11)
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • ulnar deviation of fingers
  • autosomal dominant inheritance
  • short foot/brachydactyly of toes
  • thin/hypoplastic/hyperconvex fingernails
  • cone epiphyses/epiphysis
  • symphalangy of fingers
  • clinodactyly of fifth finger
  • talipes-valgus
  • short stature/dwarfism/nanism

HPO human phenotypes related to Brachydactyly, Type C:

(show all 41)
id Description Frequency HPO Source Accession
1 ulnar deviation of finger hallmark (90%) HP:0009465
2 abnormality of the metacarpal bones hallmark (90%) HP:0001163
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 cone-shaped epiphysis typical (50%) HP:0010579
5 short toe typical (50%) HP:0001831
6 abnormality of the fingernails typical (50%) HP:0001231
7 short stature frequent (33%) HP:0004322
8 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
9 short stature occasional (7.5%) HP:0004322
10 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
11 delayed skeletal maturation occasional (7.5%) HP:0002750
12 talipes occasional (7.5%) HP:0001883
13 talipes equinovalgus occasional (7.5%) HP:0001772
14 talipes equinovarus occasional (7.5%) HP:0001762
15 hypersegmentation of proximal phalanx of third finger HP:0011929
16 polydactyly HP:0010442
17 cone-shaped epiphyses of the middle phalanges of the hand HP:0010259
18 short 1st metacarpal HP:0010034
19 triangular shaped proximal phalanx of the 2nd finger HP:0009587
20 triangular shaped middle phalanx of the 2nd finger HP:0009575
21 short 2nd finger HP:0009536
22 triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534
23 enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527
24 triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523
25 enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516
26 pseudoepiphyses of the 2nd finger HP:0009495
27 ulnar deviation of the 2nd finger HP:0009464
28 ulnar deviation of the 3rd finger HP:0009463
29 short 3rd finger HP:0009461
30 triangular shaped proximal phalanx of the 3rd finger HP:0009456
31 triangular shaped middle phalanx of the 3rd finger HP:0009436
32 pseudoepiphyses of the 3rd finger HP:0009417
33 triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356
34 enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349
35 triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331
36 enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324
37 hypersegmentation of proximal phalanx of second finger HP:0006206
38 short middle phalanx of finger HP:0005819
39 clinodactyly of the 5th finger HP:0004209
40 madelung deformity HP:0003067
41 brachydactyly syndrome HP:0001156

Drugs & Therapeutics for Brachydactyly, Type C

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Brachydactyly, Type C

Genetic Tests for Brachydactyly, Type C

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Genetic tests related to Brachydactyly, Type C:

id Genetic test Affiliating Genes
1 Brachydactyly Type C22 GDF5

Anatomical Context for Brachydactyly, Type C

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MalaCards organs/tissues related to Brachydactyly, Type C:

33
Bone, Kidney, Brain, Monocytes, B cells, Neutrophil

Animal Models for Brachydactyly, Type C or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BMPR1B, GDF5

Publications for Brachydactyly, Type C

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Articles related to Brachydactyly, Type C:

(show all 20)
idTitleAuthorsYear
1
Images in clinical medicine. Hemolytic anemia after mitral-valve repair. (23150979)
2012
2
Cast nephropathy and light-chain deposition disease in WaldenstrAPm macroglobulinemia. (22721930)
2012
3
Clinical and evolutionary characteristics of four patients with pulmonary histoplasmosis reported in the ParaA-ba Paulista Valley region. (21085880)
2010
4
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. (20802204)
2010
5
An elevated neutrophil-lymphocyte ratio independently predicts mortality in chronic critical limb ischemia. (20573475)
2010
6
Characterization of antibodies directed against the immunoglobulin light kappa chain variable chain region (VK) of hepatitis C virus-related type-II mixed cryoglobulinemia and B-cell proliferations. (19758144)
2009
7
Urinary NGAL marks cystic disease in HIV-associated nephropathy. (19628667)
2009
8
Cinacalcet in the therapy of secondary hyperparathyroidism--own experiences]. (18634360)
2008
9
Polymorphisms of microsomal epoxide hydrolase and glutathione S-transferase P1 in a male Turkish population. (17365145)
2007
10
Time and dose-dependent activation of p53 serine 15 phosphorylation among cell lines with different radiation sensitivity. (17575952)
2007
11
Effects of atorvastatin and atorvastatin withdrawal on soluble CD40L and adipocytokines in patients with hypercholesterolaemia. (16869445)
2006
12
Consumption of charcoal-broiled meat as an experimental tool for discerning CYP1A2-mediated drug metabolism in vivo. (16128907)
2005
13
Sertraline is metabolized by multiple cytochrome P450 enzymes, monoamine oxidases, and glucuronyl transferases in human: an in vitro study. (15547048)
2005
14
Antiphospholipid syndrome presenting as intracardiac thrombus with pulmonary embolism. (16195633)
2005
15
Silent myocardial infarction in women with impaired glucose tolerance: the Northern Sweden MONICA study. (14498994)
2003
16
Primary spontaneous pneumothorax in Arabs: does its frequency differ from elsewhere? (10880782)
2000
17
Keratin 15 expression in stratified epithelia: downregulation in activated keratinocytes. (10084315)
1999
18
Repeat-induced point mutations in Pad-1, a putative RNA splicing factor from Neurospora crassa, confer dominant lethal effects on ascus development. (9578630)
1998
19
Holoprosencephaly and trisomy 13 in a fetus with maternal early gestational amphetamine abuse--a case report. (8207770)
1993
20
Effects of monocyte-lymphocyte interaction on the synthesis of leukotriene B4. (1848819)
1991

Variations for Brachydactyly, Type C

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

67
id Symbol AA change Variation ID SNP ID
1GDF5p.Met173ValVAR_037978rs28936397
2GDF5p.Thr201ProVAR_073139
3GDF5p.Leu263ProVAR_073140
4GDF5p.Thr203AsnVAR_074161
5GDF5p.Val486MetVAR_074162

Clinvar genetic disease variations for Brachydactyly, Type C:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000557.4(GDF5): c.901C> T (p.Arg301Ter)single nucleotide variantPathogenicrs74315386GRCh37Chr 20, 34022312: 34022312
2GDF5GDF5, 23-BP INS, NT811insertionPathogenic
3GDF5NM_000557.4(GDF5): c.517A> G (p.Met173Val)single nucleotide variantPathogenicrs28936397GRCh37Chr 20, 34025192: 34025192
4GDF5GDF5, 1-BP INS, 206GinsertionPathogenic
5NM_000557.4(GDF5): c.1461T> G (p.Tyr487Ter)single nucleotide variantPathogenicrs121909348GRCh37Chr 20, 34021752: 34021752

Expression for genes affiliated with Brachydactyly, Type C

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Search GEO for disease gene expression data for Brachydactyly, Type C.

Pathways for genes affiliated with Brachydactyly, Type C

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Pathways related to Brachydactyly, Type C according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1BMPR1B, GDF5
2
Show member pathways
9.1BMPR1B, GDF5
3
Show member pathways
9.1BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly, Type C

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of chondrocyte differentiationGO:00323329.5BMPR1B, GDF5
2BMP signaling pathwayGO:00305099.1BMPR1B, GDF5
3chondrocyte differentiationGO:00020629.0BMPR1B, GDF5

Sources for Brachydactyly, Type C

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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