BDC
MCID: BRC039
MIFTS: 39

Brachydactyly Type C (BDC) malady

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

Summaries for Brachydactyly Type C

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48OMIM, 34MalaCards
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MalaCards: Brachydactyly Type C, also known as brachydactyly, type c, is related to brachydactyly and brachydactyly type a2, and has symptoms including short stature/dwarfism/nanism, talipes-valgus and clinodactyly of fifth finger. An important gene associated with Brachydactyly Type C is GDF5 (growth differentiation factor 5), and among its related pathways are PEDF Induced Signaling and ERK Signaling. The compounds tyrosine and threonine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are reproductive system and limbs/digits/tail.

Description from OMIM:48 113100

Aliases & Classifications for Brachydactyly Type C

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 50Orphanet, 63UMLS, 48OMIM, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

brachydactyly type c 44 21 23 50 63
brachydactyly, type c 48 46
brachydactyly haws type 44
bdc 44


External Ids:

OMIM48 113100
MESH via Orphanet37 C537093
ICD10 via Orphanet27 Q73.8
SNOMED-CT via Orphanet60 389169005
UMLS via Orphanet64 C1300268, C1862103

Related Diseases for Brachydactyly Type C

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Brachydactyly Type C:



Diseases related to brachydactyly type c

Symptoms for Brachydactyly Type C

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

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

Drugs & Therapeutics for Brachydactyly Type C

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Brachydactyly Type C

Drug clinical trials:

Search ClinicalTrials for Brachydactyly Type C

Search NIH Clinical Center for Brachydactyly Type C

Search CenterWatch for Brachydactyly Type C

Genetic Tests for Brachydactyly Type C

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21GeneTests, 23GTR
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Genetic tests related to Brachydactyly Type C:

id Genetic test Affiliating Genes
1 Brachydactyly Type C21 23 GDF5

Anatomical Context for Brachydactyly Type C

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34MalaCards
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MalaCards organs/tissues related to Brachydactyly Type C:

34
Bone

Animal Models for Brachydactyly Type C or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Brachydactyly Type C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1BMPR1B, GDF5
2MP:00053719.0BMPR1B, GDF5
3MP:00053908.8BMPR1B, GDF5

Publications for Brachydactyly Type C

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53PubMed
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Articles related to Brachydactyly Type C:

(show all 16)
idTitleAuthorsYear
1
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
2
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (23812741)
2013
3
A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
2012
4
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
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
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
7
Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
2003
8
The mutational spectrum of brachydactyly type C. (12357473)
2002
9
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
10
Brachydactyly type C. (11172365)
2001
11
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
12
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
13
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
14
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
15
Brachydactyly type C associated with shortening of the hallux. (1583664)
1992
16
Recessively inherited brachydactyly type C. (6842546)
1983

Variations for Brachydactyly Type C

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly Type C:

65
id Symbol AA change Variation ID SNP ID
1GDF5p.Met173ValVAR_037978rs28936397

Clinvar genetic disease variations for Brachydactyly Type C:

1
id Gene Name Type Significance SNP ID Assembly Location
1GDF5NM_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
5GDF5NM_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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachydactyly Type C

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

Pathways for genes affiliated with Brachydactyly Type C

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Sources:
51PathCards, 54QIAGEN, 31KEGG, 58SinoBiological
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Compounds for genes affiliated with Brachydactyly Type C

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46Novoseek
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Compounds related to Brachydactyly Type C according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine469.1BMPR1B, GDF5
2threonine468.8BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly Type C

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Sources:
17Gene Ontology
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Biological processes related to Brachydactyly Type C according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:0020629.1BMPR1B, GDF5

Products for genes affiliated with Brachydactyly Type C

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type C

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet