BDC
MCID: BRC081
MIFTS: 45

Brachydactyly, Type C (BDC)

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

Aliases & Classifications for Brachydactyly, Type C

MalaCards integrated aliases for Brachydactyly, Type C:

Name: Brachydactyly, Type C 58 13 56 41
Brachydactyly Type C 12 77 54 60 45 15
Bdc 58 12 54 76
Brachydactyly Haws Type 54 76
Type C Brachydactyly 30 6
Brachydactyly, Haws Type 58
Brachydactyly C 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type c
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brachydactyly, type c:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110970
OMIM 58 113100
MESH via Orphanet 46 C537093
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1300268 C1862103
Orphanet 60 ORPHA93384
MedGen 43 C1862103

Summaries for Brachydactyly, Type C

NIH Rare Diseases : 54 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.

MalaCards based summary : Brachydactyly, Type C, also known as brachydactyly type c, is related to brachydactyly and proximal symphalangism. An important gene associated with Brachydactyly, Type C is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. Affiliated tissues include bone and heart, and related phenotypes are ulnar deviation of finger and short middle phalanx of finger

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 : 76 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 : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... 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

Human phenotypes related to Brachydactyly, Type C:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ulnar deviation of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009465
2 short middle phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0005819
3 type c brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0009373
4 pseudoepiphyses of the 2nd finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009495
5 aplasia/hypoplasia of the 1st metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010026
6 short 2nd finger 33 hallmark (90%) HP:0009536
7 pseudoepiphyses of the 3rd finger 33 hallmark (90%) HP:0009417
8 short 3rd finger 33 hallmark (90%) HP:0009461
9 cone-shaped epiphyses of the middle phalanges of the hand 33 hallmark (90%) HP:0010259
10 short stature 60 33 frequent (33%) Occasional (29-5%) HP:0004322
11 cone-shaped epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0010579
12 clinodactyly of the 5th finger 60 33 frequent (33%) Occasional (29-5%) HP:0004209
13 short metatarsal 60 33 frequent (33%) Frequent (79-30%) HP:0010743
14 complete duplication of distal phalanx of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009606
15 stippling of the epiphysis of the distal phalanx of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009684
16 short 1st metacarpal 33 frequent (33%) HP:0010034
17 ulnar deviation of the 2nd finger 33 frequent (33%) HP:0009464
18 triangular shaped middle phalanx of the 2nd finger 33 frequent (33%) HP:0009575
19 enlarged epiphysis of the middle phalanx of the 3rd finger 33 frequent (33%) HP:0009324
20 triangular epiphysis of the middle phalanx of the 3rd finger 33 frequent (33%) HP:0009331
21 enlarged epiphysis of the proximal phalanx of the 3rd finger 33 frequent (33%) HP:0009349
22 triangular epiphysis of the proximal phalanx of the 3rd finger 33 frequent (33%) HP:0009356
23 triangular shaped middle phalanx of the 3rd finger 33 frequent (33%) HP:0009436
24 triangular shaped proximal phalanx of the 3rd finger 33 frequent (33%) HP:0009456
25 ulnar deviation of the 3rd finger 33 frequent (33%) HP:0009463
26 enlarged epiphysis of the middle phalanx of the 2nd finger 33 frequent (33%) HP:0009516
27 triangular epiphysis of the middle phalanx of the 2nd finger 33 frequent (33%) HP:0009523
28 enlarged epiphysis of the proximal phalanx of the 2nd finger 33 frequent (33%) HP:0009527
29 triangular epiphysis of the proximal phalanx of the 2nd finger 33 frequent (33%) HP:0009534
30 triangular shaped proximal phalanx of the 2nd finger 33 frequent (33%) HP:0009587
31 abnormal fingernail morphology 33 frequent (33%) HP:0001231
32 metatarsus valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0010508
33 symphalangism affecting the phalanges of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0009773
34 delayed skeletal maturation 33 occasional (7.5%) HP:0002750
35 talipes equinovarus 33 occasional (7.5%) HP:0001762
36 talipes equinovalgus 33 occasional (7.5%) HP:0001772
37 abnormality of the fingernails 60 Frequent (79-30%)
38 madelung deformity 33 HP:0003067
39 brachydactyly 33 HP:0001156
40 polydactyly 33 HP:0010442
41 hypersegmentation of proximal phalanx of second finger 33 HP:0006206
42 hypersegmentation of proximal phalanx of third finger 33 HP:0011929

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
madelung deformity

Skeletal Hands:
brachydactyly
polydactyly
fifth finger clinodactyly
limited flexion in distal interphalangeal joints
disproportionate shortening of 2nd and 3rd fingers
more
Skeletal Feet:
talipes equinovarus
talipes equinovalgus

Clinical features from OMIM:

113100

MGI Mouse Phenotypes related to Brachydactyly, Type C:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ADAM22 BMPR1B GDF5 LARGE1 LTBP1 LTBP3
2 craniofacial MP:0005382 9.65 BMPR1B LARGE1 LTBP1 LTBP3 NOG
3 limbs/digits/tail MP:0005371 9.35 ADAM22 BMPR1B GDF5 LTBP1 NOG
4 skeleton MP:0005390 9.1 BMPR1B GDF5 LARGE1 LTBP1 LTBP3 NOG

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 Type C Brachydactyly 30 GDF5

Anatomical Context for Brachydactyly, Type C

MalaCards organs/tissues related to Brachydactyly, Type C:

42
Bone, Heart

Publications for Brachydactyly, Type C

Articles related to Brachydactyly, Type C:

(show all 22)
# Title Authors Year
1
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810 )
2015
2
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? ( 25994865 )
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
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. ( 12567410 )
2003
13
The mutational spectrum of brachydactyly type C. ( 12357473 )
2002
14
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. ( 11169564 )
2001
15
Brachydactyly type C. ( 11172365 )
2001
16
Clinical and locus heterogeneity in brachydactyly type C. ( 9024575 )
1997
17
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. ( 9288091 )
1997
18
Brachydactyly type C gene maps to human chromsome 12q24. ( 8954778 )
1996
19
Pitfalls of genetic counselling in brachydactyly type C. ( 7856649 )
1994
20
Brachydactyly type C associated with shortening of the hallux. ( 1583664 )
1992
21
Recessively inherited brachydactyly type C. ( 6842546 )
1983
22
Inherited brachydactyly and hypoplasia of the bones of the extremities. ( 13953230 )
1963

Variations for Brachydactyly, Type C

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

76
# 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 NM_000557.4(GDF5): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs74315386 GRCh38 Chromosome 20, 35434514: 35434514
3 GDF5 GDF5, 23-BP INS, NT811 insertion Pathogenic
4 GDF5 NM_000557.4(GDF5): c.517A> G (p.Met173Val) single nucleotide variant Pathogenic rs28936397 GRCh37 Chromosome 20, 34025192: 34025192
5 GDF5 NM_000557.4(GDF5): c.517A> G (p.Met173Val) single nucleotide variant Pathogenic rs28936397 GRCh38 Chromosome 20, 35437412: 35437412
6 GDF5 GDF5, 1-BP INS, 206G insertion Pathogenic
7 GDF5 NM_000557.4(GDF5): c.1461T> G (p.Tyr487Ter) single nucleotide variant Pathogenic rs121909348 GRCh37 Chromosome 20, 34021752: 34021752
8 GDF5 NM_000557.4(GDF5): c.1461T> G (p.Tyr487Ter) single nucleotide variant Pathogenic rs121909348 GRCh38 Chromosome 20, 35433954: 35433954
9 GDF5 NM_000557.4(GDF5): c.1397G> A (p.Cys466Tyr) single nucleotide variant Likely pathogenic rs886039878 GRCh38 Chromosome 20, 35434018: 35434018
10 GDF5 NM_000557.4(GDF5): c.1397G> A (p.Cys466Tyr) single nucleotide variant Likely pathogenic rs886039878 GRCh37 Chromosome 20, 34021816: 34021816

Expression for Brachydactyly, Type C

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

Pathways for Brachydactyly, Type C

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 dorsal/ventral pattern formation GO:0009953 9.4 BMPR1B NOG
2 BMP signaling pathway GO:0030509 9.33 BMPR1B GDF5 NOG
3 cellular response to BMP stimulus GO:0071773 9.32 BMPR1B NOG
4 positive regulation of chondrocyte differentiation GO:0032332 9.26 BMPR1B GDF5
5 cartilage development GO:0051216 9.13 BMPR1B GDF5 NOG
6 chondrocyte differentiation GO:0002062 9.07 BMPR1B
7 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.8 BMPR1B GDF5 LTBP1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 9.26 IL3RA NOG
2 transforming growth factor beta binding GO:0050431 9.16 LTBP1 LTBP3
3 transforming growth factor beta-activated receptor activity GO:0005024 8.96 BMPR1B LTBP1
4 growth factor binding GO:0019838 8.8 BMPR1B LTBP1 LTBP3

Sources for Brachydactyly, Type C

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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