BDC
MCID: BRC081
MIFTS: 37

Brachydactyly, Type C (BDC) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brachydactyly, Type C

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Sources:
11Disease Ontology, 12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type C:

Name: Brachydactyly, Type C 52 12 50
Brachydactyly Type C 11 48 24 54 39
Bdc 11 48 24 70
 
Brachydactyly Haws Type 48 24 70
Brachydactyly C 70 27

Characteristics:

Orphanet epidemiological data:

54
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
brachydactyly, type c:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 113100
Disease Ontology11 DOID:0110970
ICD1030 Q73.8
Orphanet54 ORPHA93384
ICD10 via Orphanet31 Q73.8
MESH via Orphanet40 C537093
UMLS via Orphanet69 C1300268, C1862103
MedGen37 C1862103

Summaries for Brachydactyly, Type C

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NIH Rare Diseases:48 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 collecting duct carcinoma and bazex syndrome, and has symptoms including Array, Array and Array. An important gene associated with Brachydactyly, Type C is GDF5 (Growth Differentiation Factor 5), and among its related pathways are Hippo signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:70 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.

Disease Ontology:11 A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has material basis in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Description from OMIM:52 113100

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 & Phenotypes for Brachydactyly, Type C

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Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Human phenotypes related to Brachydactyly, Type C:

 54 64 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fingernails64 54 Frequent (79-30%) HP:0001231
2 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
3 short stature64 54 Occasional (29-5%) HP:0004322
4 short middle phalanx of finger64 54 Very frequent (99-80%) HP:0005819
5 type c brachydactyly64 54 Very frequent (99-80%) HP:0009373
6 ulnar deviation of finger64 54 Very frequent (99-80%) HP:0009465
7 pseudoepiphyses of the 2nd finger64 54 Very frequent (99-80%) HP:0009495
8 complete duplication of distal phalanx of the thumb64 54 Frequent (79-30%) HP:0009606
9 stippling of the epiphysis of the distal phalanx of the thumb64 54 Frequent (79-30%) HP:0009684
10 symphalangism affecting the phalanges of the hand64 54 Occasional (29-5%) HP:0009773
11 aplasia/hypoplasia of the 1st metacarpal64 54 Very frequent (99-80%) HP:0010026
12 metatarsus valgus64 54 Occasional (29-5%) HP:0010508
13 cone-shaped epiphysis64 54 Frequent (79-30%) HP:0010579
14 short metatarsal64 54 Frequent (79-30%) HP:0010743
15 brachydactyly syndrome64 HP:0001156
16 talipes equinovarus64 HP:0001762
17 talipes equinovalgus64 HP:0001772
18 delayed skeletal maturation64 HP:0002750
19 madelung deformity64 HP:0003067
20 hypersegmentation of proximal phalanx of second finger64 HP:0006206
21 enlarged epiphysis of the middle phalanx of the 3rd finger64 HP:0009324
22 triangular epiphysis of the middle phalanx of the 3rd finger64 HP:0009331
23 enlarged epiphysis of the proximal phalanx of the 3rd finger64 HP:0009349
24 triangular epiphysis of the proximal phalanx of the 3rd finger64 HP:0009356
25 pseudoepiphyses of the 3rd finger64 HP:0009417
26 triangular shaped middle phalanx of the 3rd finger64 HP:0009436
27 triangular shaped proximal phalanx of the 3rd finger64 HP:0009456
28 short 3rd finger64 HP:0009461
29 ulnar deviation of the 3rd finger64 HP:0009463
30 ulnar deviation of the 2nd finger64 HP:0009464
31 enlarged epiphysis of the middle phalanx of the 2nd finger64 HP:0009516
32 triangular epiphysis of the middle phalanx of the 2nd finger64 HP:0009523
33 enlarged epiphysis of the proximal phalanx of the 2nd finger64 HP:0009527
34 triangular epiphysis of the proximal phalanx of the 2nd finger64 HP:0009534
35 short 2nd finger64 HP:0009536
36 triangular shaped middle phalanx of the 2nd finger64 HP:0009575
37 triangular shaped proximal phalanx of the 2nd finger64 HP:0009587
38 short 1st metacarpal64 HP:0010034
39 cone-shaped epiphyses of the middle phalanges of the hand64 HP:0010259
40 polydactyly64 HP:0010442
41 hypersegmentation of proximal phalanx of third finger64 HP:0011929

Drugs & Therapeutics for Brachydactyly, Type C

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Brachydactyly, Type C


Cochrane evidence based reviews: 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 C27 24 GDF5

Anatomical Context for Brachydactyly, Type C

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MalaCards organs/tissues related to Brachydactyly, Type C:

36
Bone

Publications for Brachydactyly, Type C

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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
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
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
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
Brachydactyly type C. (11172365)
2001
14
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
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

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

70
id Symbol AA change Variation ID SNP ID
1GDF5p.Met173ValVAR_037978rs28936397
2GDF5p.Thr201ProVAR_073139
3GDF5p.Leu263ProVAR_073140
4GDF5p.Thr203AsnVAR_074161
5GDF5p.Val486MetVAR_074162

Clinvar genetic disease variations for Brachydactyly, Type C:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF5NM_ 000557.4(GDF5): c.1397G> A (p.Cys466Tyr)SNVLikely pathogenicrs886039878GRCh37Chr 20, 34021816: 34021816
2GDF5NM_ 000557.4(GDF5): c.158delT (p.Leu53Argfs)deletionPathogenicrs886042462GRCh37Chr 20, 34025551: 34025551
3GDF5NM_ 000557.4(GDF5): c.901C> T (p.Arg301Ter)SNVPathogenicrs74315386GRCh37Chr 20, 34022312: 34022312
4GDF5GDF5, 23-BP INS, NT811insertionPathogenic
5GDF5NM_ 000557.4(GDF5): c.517A> G (p.Met173Val)SNVPathogenicrs28936397GRCh37Chr 20, 34025192: 34025192
6GDF5GDF5, 1-BP INS, 206GinsertionPathogenic
7GDF5NM_ 000557.4(GDF5): c.1461T> G (p.Tyr487Ter)SNVPathogenicrs121909348GRCh37Chr 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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Pathways related to Brachydactyly, Type C according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1BMPR1B, GDF5
2
Show member pathways
9.1BMPR1B, GDF5

GO Terms for genes affiliated with Brachydactyly, Type C

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

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.6BMPR1B, GDF5
2chondrocyte differentiationGO:00020629.6BMPR1B, GDF5
3positive regulation of chondrocyte differentiationGO:00323329.5BMPR1B, GDF5
4transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.1BMPR1B, GDF5

Sources for Brachydactyly, Type C

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet