MCID: BRC081
MIFTS: 40

Brachydactyly, Type C malady

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

Aliases & Classifications for Brachydactyly, Type C

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brachydactyly, Type C:

Name: Brachydactyly, Type C 49 11 47
Brachydactyly Type C 45 22 51 24 65
Brachydactyly Haws Type 45 22 67
 
Bdc 45 22 67
Collecting Duct Carcinoma of the Kidney 65
Brachydactyly C 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 113100
Orphanet51 93384
ICD10 via Orphanet28 Q73.8
MESH via Orphanet37 C537093
UMLS via Orphanet66 C1300268, C1862103
MedGen34 C1862103
MeSH36 D059327

Summaries for Brachydactyly, Type C

About this section
NIH Rare Diseases:45 Brachydactyly type c is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. the bones of the ring finger are typically normal. other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). brachydactyly type c is typically caused by changes (mutations) in the gdf5 gene and is inherited in an autosomal dominant manner. treatment varies based on the severity of the condition. physical therapy and/or plastic surgery may be indicated if the condition affects hand function. last updated: 11/4/2015

MalaCards based summary: Brachydactyly, Type C, also known as brachydactyly type c, is related to brachydactyly, type a2 and brachydactyly, 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 Hippo signaling pathway and . Affiliated tissues include bone and kidney, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Brachydactyly C: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others.

Description from OMIM:49 113100

Related Diseases for Brachydactyly, Type C

About this section

Graphical network of diseases related to Brachydactyly, Type C:



Diseases related to brachydactyly, type c

Symptoms for Brachydactyly, Type C

About this section

Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

 51 (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 42)
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 talipes occasional (7.5%) HP:0001883
11 delayed skeletal maturation occasional (7.5%) HP:0002750
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 brachydactyly syndrome HP:0001156
17 madelung deformity HP:0003067
18 clinodactyly of the 5th finger HP:0004209
19 short middle phalanx of finger HP:0005819
20 hypersegmentation of proximal phalanx of second finger HP:0006206
21 enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324
22 triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331
23 enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349
24 triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356
25 pseudoepiphyses of the 3rd finger HP:0009417
26 triangular shaped middle phalanx of the 3rd finger HP:0009436
27 triangular shaped proximal phalanx of the 3rd finger HP:0009456
28 short 3rd finger HP:0009461
29 ulnar deviation of the 3rd finger HP:0009463
30 ulnar deviation of the 2nd finger HP:0009464
31 pseudoepiphyses of the 2nd finger HP:0009495
32 enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516
33 triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523
34 enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527
35 triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534
36 short 2nd finger HP:0009536
37 triangular shaped middle phalanx of the 2nd finger HP:0009575
38 triangular shaped proximal phalanx of the 2nd finger HP:0009587
39 short 1st metacarpal HP:0010034
40 cone-shaped epiphyses of the middle phalanges of the hand HP:0010259
41 polydactyly HP:0010442
42 hypersegmentation of proximal phalanx of third finger HP:0011929

Drugs & Therapeutics for Brachydactyly, Type C

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Brachydactyly, Type C

Genetic Tests for Brachydactyly, Type C

About this section

Genetic tests related to Brachydactyly, Type C:

id Genetic test Affiliating Genes
1 Brachydactyly Type C22 24 GDF5

Anatomical Context for Brachydactyly, Type C

About this section

MalaCards organs/tissues related to Brachydactyly, Type C:

33
Bone, Kidney

Animal Models for Brachydactyly, Type C or affiliated genes

About this section

MGI Mouse Phenotypes related to Brachydactyly, Type C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BMPR1B, GDF5

Publications for Brachydactyly, Type C

About this section

Articles related to Brachydactyly, Type C:

(show all 20)
idTitleAuthorsYear
1
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
2015
2
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
2015
3
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
2014
4
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)
2014
5
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
2013
6
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
7
A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
2012
8
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
9
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682)
2006
10
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
2004
11
Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
2003
12
The mutational spectrum of brachydactyly type C. (12357473)
2002
13
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
2001
14
Brachydactyly type C. (11172365)
2001
15
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
1997
16
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
17
Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
1996
18
Pitfalls of genetic counselling in brachydactyly type C. (7856649)
1994
19
Brachydactyly type C associated with shortening of the hallux. (1583664)
1992
20
Recessively inherited brachydactyly type C. (6842546)
1983

Variations for Brachydactyly, Type C

About this section

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

67
id Symbol AA change Variation ID SNP ID
1GDF5p.Met173ValVAR_037978rs28936397
2GDF5p.Thr201ProVAR_073139
3GDF5p.Leu263ProVAR_073140

Clinvar genetic disease variations for Brachydactyly, Type C:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_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
5NM_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
Search GEO for disease gene expression data for Brachydactyly, Type C.

Pathways for genes affiliated with Brachydactyly, Type C

About this section

Pathways related to Brachydactyly, Type C according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1BMPR1B, GDF5
2
TGF-beta Signaling Pathway (sino)
Show member pathways
9.1BMPR1B, GDF5
3
TGF-beta signaling pathway (KEGG)
Show member pathways
9.1BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly, Type C

About this section

Biological processes related to Brachydactyly, Type C according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.2BMPR1B, GDF5
2chondrocyte differentiationGO:00020629.1BMPR1B, GDF5
3BMP signaling pathwayGO:00305098.8BMPR1B, GDF5

Sources for Brachydactyly, Type C

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet