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:
12diseasecard, 24GeneTests, 27GTR, 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 Haws Type 48 24 70
Brachydactyly Type C 48 24 54
 
Bdc 48 24 70
Brachydactyly C 70 27
Collecting Duct Carcinoma of the Kidney 68

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
Orphanet54 ORPHA93384
ICD10 via Orphanet31 Q73.8
MESH via Orphanet40 C537093
UMLS via Orphanet69 C1300268, C1862103
MedGen37 C1862103
MeSH39 D059327

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 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 is Hippo signaling pathway. Affiliated tissues include bone and kidney, and related mouse phenotype limbs/digits/tail.

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.

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:

 64 54 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome64 hallmark (90%) HP:0001156
2 abnormality of the metacarpal bones64 hallmark (90%) HP:0001163
3 ulnar deviation of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0009465
4 abnormality of the fingernails64 54 typical (50%) Frequent (79-30%) HP:0001231
5 short toe64 typical (50%) HP:0001831
6 cone-shaped epiphysis64 54 typical (50%) Frequent (79-30%) HP:0010579
7 short stature64 54 frequent (33%) Occasional (29-5%) HP:0004322
8 talipes equinovarus64 occasional (7.5%) HP:0001762
9 talipes equinovalgus64 occasional (7.5%) HP:0001772
10 talipes64 occasional (7.5%) HP:0001883
11 delayed skeletal maturation64 occasional (7.5%) HP:0002750
12 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
13 symphalangism affecting the phalanges of the hand64 54 occasional (7.5%) Occasional (29-5%) HP:0009773
14 madelung deformity64 HP:0003067
15 short middle phalanx of finger64 54 Very frequent (99-80%) HP:0005819
16 hypersegmentation of proximal phalanx of second finger64 HP:0006206
17 enlarged epiphysis of the middle phalanx of the 3rd finger64 HP:0009324
18 triangular epiphysis of the middle phalanx of the 3rd finger64 HP:0009331
19 enlarged epiphysis of the proximal phalanx of the 3rd finger64 HP:0009349
20 triangular epiphysis of the proximal phalanx of the 3rd finger64 HP:0009356
21 pseudoepiphyses of the 3rd finger64 HP:0009417
22 triangular shaped middle phalanx of the 3rd finger64 HP:0009436
23 triangular shaped proximal phalanx of the 3rd finger64 HP:0009456
24 short 3rd finger64 HP:0009461
25 ulnar deviation of the 3rd finger64 HP:0009463
26 ulnar deviation of the 2nd finger64 HP:0009464
27 pseudoepiphyses of the 2nd finger64 54 Very frequent (99-80%) HP:0009495
28 enlarged epiphysis of the middle phalanx of the 2nd finger64 HP:0009516
29 triangular epiphysis of the middle phalanx of the 2nd finger64 HP:0009523
30 enlarged epiphysis of the proximal phalanx of the 2nd finger64 HP:0009527
31 triangular epiphysis of the proximal phalanx of the 2nd finger64 HP:0009534
32 short 2nd finger64 HP:0009536
33 triangular shaped middle phalanx of the 2nd finger64 HP:0009575
34 triangular shaped proximal phalanx of the 2nd finger64 HP:0009587
35 short 1st metacarpal64 HP:0010034
36 cone-shaped epiphyses of the middle phalanges of the hand64 HP:0010259
37 polydactyly64 HP:0010442
38 hypersegmentation of proximal phalanx of third finger64 HP:0011929
39 type c brachydactyly54 Very frequent (99-80%)
40 complete duplication of distal phalanx of the thumb54 Frequent (79-30%)
41 stippling of the epiphysis of the distal phalanx of the thumb54 Frequent (79-30%)
42 aplasia/hypoplasia of the 1st metacarpal54 Very frequent (99-80%)
43 metatarsus valgus54 Occasional (29-5%)
44 short metatarsal54 Frequent (79-30%)

UMLS symptoms related to Brachydactyly, Type C:


flank pain

MGI Mouse Phenotypes related to Brachydactyly, Type C according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BMPR1B, GDF5

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 C27 24 GDF5

Anatomical Context for Brachydactyly, Type C

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MalaCards organs/tissues related to Brachydactyly, Type C:

36
Bone, Kidney

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:

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, NT811insertionPathogenicChr na, -1: -1
5GDF5NM_000557.4(GDF5): c.517A> G (p.Met173Val)SNVPathogenicrs28936397GRCh37Chr 20, 34025192: 34025192
6GDF5GDF5, 1-BP INS, 206GinsertionPathogenicChr na, -1: -1
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

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
1chondrocyte differentiationGO:00020629.6BMPR1B, GDF5
2positive regulation of chondrocyte differentiationGO:00323329.5BMPR1B, GDF5
3transmembrane 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