BDC
MCID: BRC039
MIFTS: 39

Brachydactyly Type C (BDC) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Brachydactyly Type C

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MalaCards based summary: Brachydactyly Type C, also known as brachydactyly, type c, is related to brachydactyly and brachydactyly type a2, and has symptoms including short hand/brachydactyly, metacarpal anomalies/archibald's sign and ulnar deviation of fingers. 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:46 113100

Aliases & Classifications for Brachydactyly Type C

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Brachydactyly Type C, Aliases & Descriptions:

Name: Brachydactyly Type C 42 20 22 48 62
Brachydactyly, Type C 46 44
 
Brachydactyly Haws Type 42
Bdc 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 113100
MESH via Orphanet35 C537093
ICD10 via Orphanet26 Q73.8
UMLS via Orphanet63 C1300268, C1862103

Related Diseases for Brachydactyly Type C

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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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Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

48 (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 brachydactyly syndrome hallmark (90%) HP:0001156
2 abnormality of the metacarpal bones hallmark (90%) HP:0001163
3 ulnar deviation of finger hallmark (90%) HP:0009465
4 abnormality of the fingernails typical (50%) HP:0001231
5 short toe typical (50%) HP:0001831
6 cone-shaped epiphysis typical (50%) HP:0010579
7 short stature frequent (33%) HP:0004322
8 talipes equinovarus occasional (7.5%) HP:0001762
9 talipes equinovalgus occasional (7.5%) HP:0001772
10 delayed skeletal maturation occasional (7.5%) HP:0002750
11 talipes occasional (7.5%) HP:0001883
12 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
13 short stature occasional (7.5%) HP:0004322
14 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
15 autosomal dominant inheritance HP:0000006
16 madelung deformity HP:0003067
17 clinodactyly of the 5th finger HP:0004209
18 short middle phalanx of finger HP:0005819
19 hypersegmentation of proximal phalanx of second finger HP:0006206
20 enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324
21 triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331
22 enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349
23 triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356
24 pseudoepiphyses of the 3rd finger HP:0009417
25 triangular shaped middle phalanx of the 3rd finger HP:0009436
26 triangular shaped proximal phalanx of the 3rd finger HP:0009456
27 short 3rd finger HP:0009461
28 ulnar deviation of the 3rd finger HP:0009463
29 ulnar deviation of the 2nd finger HP:0009464
30 pseudoepiphyses of the 2nd finger HP:0009495
31 enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516
32 triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523
33 enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527
34 triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534
35 short 2nd finger HP:0009536
36 triangular shaped middle phalanx of the 2nd finger HP:0009575
37 triangular shaped proximal phalanx of the 2nd finger HP:0009587
38 short 1st metacarpal HP:0010034
39 cone-shaped epiphyses of the middle phalanges of the hand HP:0010259
40 polydactyly HP:0010442
41 hypersegmentation of proximal phalanx of third finger HP:0011929

Drugs & Therapeutics for Brachydactyly Type C

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Drug clinical trials:

Search ClinicalTrials for Brachydactyly Type C

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 C20 22 GDF5

Anatomical Context for Brachydactyly Type C

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MalaCards organs/tissues related to Brachydactyly Type C:

32
Bone

Animal Models for Brachydactyly Type C or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly Type C:

36
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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Articles related to Brachydactyly Type C:

(show all 17)
idTitleAuthorsYear
1
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
2
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)
2014
3
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
4
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
5
A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
2012
6
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
7
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
2006
8
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
9
Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
2003
10
The mutational spectrum of brachydactyly type C. (12357473)
2002
11
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
12
Brachydactyly type C. (11172365)
2001
13
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
14
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
15
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
16
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
17
Recessively inherited brachydactyly type C. (6842546)
1983

Variations for Brachydactyly Type C

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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:

6
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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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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Compounds for genes affiliated with Brachydactyly Type C

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Sources:
44Novoseek
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Compounds related to Brachydactyly Type C according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine449.1BMPR1B, GDF5
2threonine448.8BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly Type C

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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

Sources for Brachydactyly Type C

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet