BDC
MCID: BRC039
MIFTS: 39

Brachydactyly Type C (BDC) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Brachydactyly Type C

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 113100

Aliases & Classifications for Brachydactyly Type C

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 62UMLS, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

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


Aliases & Descriptions:

brachydactyly type c 43 20 22 49 62
brachydactyly, type c 47 45
brachydactyly haws type 43
bdc 43


External Ids:

OMIM47 113100
MESH via Orphanet36 C537093
ICD10 via Orphanet26 Q73.8
SNOMED-CT via Orphanet59 389169005
UMLS via Orphanet63 C1300268, C1862103

Related Diseases for Brachydactyly Type C

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Brachydactyly Type C:



Diseases related to brachydactyly type c

Symptoms for Brachydactyly Type C

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Brachydactyly Type C

Search NIH Clinical Center for Brachydactyly Type C

Genetic Tests for Brachydactyly Type C

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Brachydactyly Type C:

id Genetic test Affiliating Genes
1 Brachydactyly Type C20 22 GDF5

Anatomical Context for Brachydactyly Type C

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Brachydactyly Type C:

33
Bone

Animal Models for Brachydactyly Type C or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Brachydactyly Type C:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1BMPR1B, GDF5
2MP:00053719.0BMPR1B, GDF5
3MP:00053908.8BMPR1B, GDF5

Publications for Brachydactyly Type C

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 53QIAGEN, 30KEGG, 57SinoBiological
See all sources

Compounds for genes affiliated with Brachydactyly Type C

About this section
Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1tyrosine459.1BMPR1B, GDF5
2threonine458.8BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly Type C

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type C

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet