MCID: BRC081
MIFTS: 38

Brachydactyly, Type C

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

Aliases & Classifications for Brachydactyly, Type C

MalaCards integrated aliases for Brachydactyly, Type C:

Name: Brachydactyly, Type C 53 13 51
Brachydactyly Type C 12 72 49 55 28 41
Bdc 53 12 49 71
Brachydactyly Haws Type 49 71
Brachydactyly C 71 36
Brachydactyly, Haws Type 53

Characteristics:

Orphanet epidemiological data:

55
brachydactyly type c
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to grebe syndrome , du pan syndrome , and acromesomelic dysplasia, hunter thompson type


HPO:

31
brachydactyly, type c:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 113100
Disease Ontology 12 DOID:0110970
ICD10 32 Q73.8
Orphanet 55 ORPHA93384
MESH via Orphanet 42 C537093
UMLS via Orphanet 70 C1862103 C1300268
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1862103
KEGG 36 H00483

Summaries for Brachydactyly, Type C

NIH Rare Diseases : 49 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 and brachydactyly, type a2, and has symptoms including short stature, cone-shaped epiphysis and abnormality of the fingernails. An important gene associated with Brachydactyly, Type C is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and Hippo signaling pathway. Affiliated tissues include bone.

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term which literally... more...

Description from OMIM: 113100

Related Diseases for Brachydactyly, Type C

Graphical network of the top 20 diseases related to Brachydactyly, Type C:



Diseases related to Brachydactyly, Type C

Symptoms & Phenotypes for Brachydactyly, Type C

Symptoms via clinical synopsis from OMIM:

53
SkeletalLimbs:
madelung deformity

SkeletalFeet:
talipes equinovarus
talipes equinovalgus

SkeletalHands:
brachydactyly
polydactyly
fifth finger clinodactyly
limited flexion in distal interphalangeal joints
disproportionate shortening of 2nd and 3rd fingers
more

Clinical features from OMIM:

113100

Human phenotypes related to Brachydactyly, Type C:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 55 31 frequent (33%) Occasional (29-5%) HP:0004322
2 cone-shaped epiphysis 55 31 frequent (33%) Frequent (79-30%) HP:0010579
3 abnormality of the fingernails 55 31 frequent (33%) Frequent (79-30%) HP:0001231
4 clinodactyly of the 5th finger 55 31 frequent (33%) Occasional (29-5%) HP:0004209
5 ulnar deviation of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009465
6 metatarsus valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0010508
7 symphalangism affecting the phalanges of the hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0009773
8 short metatarsal 55 31 frequent (33%) Frequent (79-30%) HP:0010743
9 short middle phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0005819
10 type c brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0009373
11 pseudoepiphyses of the 2nd finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009495
12 complete duplication of distal phalanx of the thumb 55 31 frequent (33%) Frequent (79-30%) HP:0009606
13 stippling of the epiphysis of the distal phalanx of the thumb 55 31 frequent (33%) Frequent (79-30%) HP:0009684
14 aplasia/hypoplasia of the 1st metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010026
15 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
16 madelung deformity 31 HP:0003067
17 brachydactyly 31 HP:0001156
18 talipes equinovarus 31 occasional (7.5%) HP:0001762
19 short 1st metacarpal 31 frequent (33%) HP:0010034
20 short 2nd finger 31 hallmark (90%) HP:0009536
21 talipes equinovalgus 31 occasional (7.5%) HP:0001772
22 polydactyly 31 HP:0010442
23 ulnar deviation of the 2nd finger 31 frequent (33%) HP:0009464
24 triangular shaped middle phalanx of the 2nd finger 31 frequent (33%) HP:0009575
25 hypersegmentation of proximal phalanx of second finger 31 HP:0006206
26 enlarged epiphysis of the middle phalanx of the 3rd finger 31 frequent (33%) HP:0009324
27 triangular epiphysis of the middle phalanx of the 3rd finger 31 frequent (33%) HP:0009331
28 enlarged epiphysis of the proximal phalanx of the 3rd finger 31 frequent (33%) HP:0009349
29 triangular epiphysis of the proximal phalanx of the 3rd finger 31 frequent (33%) HP:0009356
30 pseudoepiphyses of the 3rd finger 31 hallmark (90%) HP:0009417
31 triangular shaped middle phalanx of the 3rd finger 31 frequent (33%) HP:0009436
32 triangular shaped proximal phalanx of the 3rd finger 31 frequent (33%) HP:0009456
33 short 3rd finger 31 hallmark (90%) HP:0009461
34 ulnar deviation of the 3rd finger 31 frequent (33%) HP:0009463
35 enlarged epiphysis of the middle phalanx of the 2nd finger 31 frequent (33%) HP:0009516
36 triangular epiphysis of the middle phalanx of the 2nd finger 31 frequent (33%) HP:0009523
37 enlarged epiphysis of the proximal phalanx of the 2nd finger 31 frequent (33%) HP:0009527
38 triangular epiphysis of the proximal phalanx of the 2nd finger 31 frequent (33%) HP:0009534
39 triangular shaped proximal phalanx of the 2nd finger 31 frequent (33%) HP:0009587
40 cone-shaped epiphyses of the middle phalanges of the hand 31 hallmark (90%) HP:0010259
41 hypersegmentation of proximal phalanx of third finger 31 HP:0011929

Drugs & Therapeutics for Brachydactyly, Type C

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Brachydactyly, Type C

Cochrane evidence based reviews: brachydactyly type c

Genetic Tests for Brachydactyly, Type C

Genetic tests related to Brachydactyly, Type C:

# Genetic test Affiliating Genes
1 Brachydactyly Type C 28 GDF5

Anatomical Context for Brachydactyly, Type C

MalaCards organs/tissues related to Brachydactyly, Type C:

38
Bone

Publications for Brachydactyly, Type C

Articles related to Brachydactyly, Type C:

(show all 20)
# Title Authors Year
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
Brachydactyly type C. ( 11172365 )
2001
14
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. ( 11169564 )
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

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

71
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Met173Val VAR_037978 rs28936397
2 GDF5 p.Thr201Pro VAR_073139
3 GDF5 p.Leu263Pro VAR_073140
4 GDF5 p.Thr203Asn VAR_074161
5 GDF5 p.Val486Met VAR_074162

ClinVar genetic disease variations for Brachydactyly, Type C:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs74315386 GRCh37 Chromosome 20, 34022312: 34022312
2 GDF5 GDF5, 23-BP INS, NT811 insertion Pathogenic
3 GDF5 NM_000557.4(GDF5): c.517A> G (p.Met173Val) single nucleotide variant Pathogenic rs28936397 GRCh37 Chromosome 20, 34025192: 34025192
4 GDF5 GDF5, 1-BP INS, 206G insertion Pathogenic
5 GDF5 NM_000557.4(GDF5): c.1461T> G (p.Tyr487Ter) single nucleotide variant Pathogenic rs121909348 GRCh37 Chromosome 20, 34021752: 34021752
6 GDF5 NM_000557.4(GDF5): c.1397G> A (p.Cys466Tyr) single nucleotide variant Likely pathogenic rs886039878 GRCh37 Chromosome 20, 34021816: 34021816
7 GDF5 NM_000557.4(GDF5): c.158delT (p.Leu53Argfs) deletion Pathogenic rs886042462 GRCh37 Chromosome 20, 34025551: 34025551

Expression for Brachydactyly, Type C

Search GEO for disease gene expression data for Brachydactyly, Type C.

Pathways for Brachydactyly, Type C

Pathways related to Brachydactyly, Type C according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

# Super pathways Score Top Affiliating Genes
1 11.14 BMPR1B GDF5
2 10.55 BMPR1B GDF5

GO Terms for Brachydactyly, Type C

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.26 BMPR1B GDF5
2 chondrocyte differentiation GO:0002062 9.16 BMPR1B GDF5
3 positive regulation of chondrocyte differentiation GO:0032332 8.96 BMPR1B GDF5
4 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.62 BMPR1B GDF5

Sources for Brachydactyly, Type C

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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