BDC
MCID: BRC039
MIFTS: 33

Brachydactyly Type C (BDC) malady

Bone, Fetal categories

Summaries for Brachydactyly Type C

Sources:
47OMIM, 33MalaCards
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MalaCards: Brachydactyly Type C, also known as brachydactyly, type c, is related to brachydactyly and brachydactyly type b, and has symptoms including autosomal dominant inheritance, short stature/dwarfism/nanism and metacarpal anomalies/archibald's sign. An important gene associated with Brachydactyly Type C is GDF5 (growth differentiation factor 5), and among its related pathways are PEDF Induced Signaling and Rho Family GTPases. The compound threonine have been mentioned in the context of this disorder. Affiliated tissues include heart and b cells, and related mouse phenotype limbs/digits/tail.

Description from OMIM:47 113100

Aliases & Classifications for Brachydactyly Type C

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 61UMLS, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


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 61
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 Orphanet58 389169005
UMLS via Orphanet62 C1300268, C1862103

Related Diseases for Brachydactyly Type C

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachydactyly Type C:



Diseases related to brachydactyly type c

Clinical Features for Brachydactyly Type C

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

113100

Clinical synopsis from OMIM:

113100

Symptoms:

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

Drugs & Therapeutics for Brachydactyly Type C

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Brachydactyly Type C:

33
Heart, B cells

Animal Models for Brachydactyly Type C or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Brachydactyly Type C:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1GDF5, BMPR1B

Publications for Brachydactyly Type C

Sources:
51PubMed
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Articles related to Brachydactyly Type C:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
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
2
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. (24022874)
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
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (22233338)
2012
5
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
2011
6
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (21537345)
2011
7
Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. (21377971)
2011
8
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. (20024692)
2010
9
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
2009
10
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)
2009
11
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
2009
12
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (19327734)
2009
13
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. (19461659)
2009
14
Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. (19504437)
2009
15
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
16
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
2007
17
Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. (18494372)
2007
18
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. (17486609)
2007
19
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (17668388)
2007
20
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. (17061261)
2006
21
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (16871364)
2006
22
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. (15832105)
2005
23
Answering a century old riddle: brachydactyly type A1. (15225411)
2004
24
Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. (14707163)
2004
25
A case report of brachydactyly types D and E: a new variation of brachydactyly. (15215028)
2004
26
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. (15070926)
2004
27
Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. (14767912)
2004
28
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
29
Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
2003
30
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. (12566523)
2003
31
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. (12525541)
2003
32
Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
2002
33
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. (11897820)
2002
34
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
35
Intrafamilial clinical variability in type C brachydactyly. (11837604)
2001
36
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)
2000
37
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. (10712204)
2000
38
Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
1999
39
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
1999
40
Clinical and molecular studies of brachydactyly type D. (10398270)
1999
41
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
42
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
43
Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition? (9018415)
1997
44
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. (8933344)
1996
45
Characteristic facies in type B brachydactyly? (7981857)
1994
46
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. (8024616)
1994
47
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
48
Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
1989
49
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
50
A case of brachydactyly (type Brailsford). (14895884)
1951

Genetic Variations for Brachydactyly Type C

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Brachydactyly Type C:

63
id Symbol AA change Variation SNP ID
1GDF5p.Met173ValVAR_037978rs28936397

Expression for genes affiliated with Brachydactyly Type C

Sources:
1BioGPS, 15Gene 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

Sources:
52QIAGEN, 30KEGG, 56SinoBiological
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Compounds for genes affiliated with Brachydactyly Type C

Sources:
45Novoseek
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Compounds related to Brachydactyly Type C according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1threonine459.1GDF5, BMPR1B

GO Terms for genes affiliated with Brachydactyly Type C

Products for genes affiliated with Brachydactyly Type C

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type C

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet