MCID: BRC081
MIFTS: 39

Brachydactyly, Type C malady

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

Aliases & Classifications for Brachydactyly, Type C

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Sources:
50OMIM, 12diseasecard, 48Novoseek, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type C:

Name: Brachydactyly, Type C 50 12 48
Brachydactyly Haws Type 46 23 68
Brachydactyly Type C 46 23 52
 
Bdc 46 23 68
Brachydactyly C 68 25
Collecting Duct Carcinoma of the Kidney 66

Characteristics:

Orphanet epidemiological data:

52
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
brachydactyly, type c:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 113100
Orphanet52 ORPHA93384
ICD10 via Orphanet29 Q73.8
MESH via Orphanet38 C537093
UMLS via Orphanet67 C1300268, C1862103
MedGen35 C1862103
MeSH37 D059327

Summaries for Brachydactyly, Type C

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NIH Rare Diseases:46 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 haws type, is related to bazex syndrome and collecting duct carcinoma, 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 TGF-beta Signaling Pathway (sino). Affiliated tissues include bone and kidney, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:68 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:50 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 for Brachydactyly, Type C

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Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Symptoms:

 52 (show all 14)
  • abnormality of the fingernails
  • clinodactyly of the 5th finger
  • short stature
  • short middle phalanx of finger
  • type c brachydactyly
  • ulnar deviation of finger
  • pseudoepiphyses of the 2nd finger
  • complete duplication of distal phalanx of the thumb
  • stippling of the epiphysis of the distal phalanx of the thumb
  • symphalangism affecting the phalanges of the hand
  • aplasia/hypoplasia of the 1st metacarpal
  • metatarsus valgus
  • cone-shaped epiphysis
  • short metatarsal

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 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 brachydactyly syndrome HP:0001156
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

UMLS symptoms related to Brachydactyly, Type C:


flank pain

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

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 C25 23 GDF5

Anatomical Context for Brachydactyly, Type C

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MalaCards organs/tissues related to Brachydactyly, Type C:

34
Bone, Kidney

Animal Models for Brachydactyly, Type C or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type C:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BMPR1B, GDF5

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
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
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
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)
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
Clinical and locus heterogeneity in brachydactyly type C. (9024575)
1997
16
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
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:

68
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
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

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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
3
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
1transmembrane receptor protein serine/threonine kinase signaling pathwayGO:00071789.4BMPR1B, GDF5
2positive regulation of chondrocyte differentiationGO:00323329.3BMPR1B, GDF5
3chondrocyte differentiationGO:00020629.1BMPR1B, GDF5

Sources for Brachydactyly, Type C

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet