MCID: BRC081
MIFTS: 40

Brachydactyly, Type C malady

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

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 brachydactyly syndrome, abnormality of the metacarpal bones and ulnar deviation of 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

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Sources:
47OMIM, 11diseasecard, 45Novoseek, 43NIH Rare Diseases, 22GeneTests, 49Orphanet, 24GTR, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Brachydactyly, Type C, Aliases & Descriptions:

Name: Brachydactyly, Type C 47 11 45
Brachydactyly Type C 43 22 49 24
 
Brachydactyly Haws Type 43
Bdc 43


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: Infancy,Neonatal


External Ids:

OMIM47 113100
Orphanet49 93384
MESH via Orphanet36 C537093
ICD10 via Orphanet28 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:

 49 (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 C22 24 GDF5

Anatomical Context for Brachydactyly, Type C

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MalaCards organs/tissues related to Brachydactyly, Type C:

33
Bone

Animal Models for Brachydactyly, Type C or affiliated genes

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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

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Articles related to Brachydactyly, Type C:

(show all 19)
idTitleAuthorsYear
1
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
2
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
3
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)
2014
4
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
5
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
6
A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
2012
7
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
8
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
2006
9
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
10
Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
2003
11
The mutational spectrum of brachydactyly type C. (12357473)
2002
12
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
13
Brachydactyly type C. (11172365)
2001
14
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
15
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
16
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
17
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
18
Brachydactyly type C associated with shortening of the hallux. (1583664)
1992
19
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:

7
id Gene Variation 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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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:
45Novoseek
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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

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Biological processes related to Brachydactyly, Type C according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.1BMPR1B, GDF5

Products for genes affiliated with Brachydactyly, Type C

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachydactyly, Type C

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet