Brachydactyly, Type C disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRC081 MIFTS: 38	Brachydactyly, Type C Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of unspecified limb

Other reduction defects of unspecified limb(s)

Orphanet: ⁵⁵

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵³ 113100

Disease Ontology ¹² DOID:0110970

ICD10 ³² Q73.8

MeSH ⁴¹ C537093 D059327

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

SNOMED-CT via HPO ⁶⁵ 263681008 43476002 249808002 more

UMLS ⁶⁹ C1300268 C1862103

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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

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Related Diseases for Brachydactyly, Type C

Diseases in the Brachydactyly family:

Brachydactyly, Type A1	Brachydactyly, Type A2
Brachydactyly, Type A3	Brachydactyly, Type A4
Brachydactyly, Type B1	Brachydactyly, Type C
Brachydactyly, Type D	Brachydactyly, Type E1
Brachydactyly, Type A1, B	Brachydactyly, Type B2
Brachydactyly, Type E2	Brachydactyly, Type A1, C
Brachydactyly, Type A1, D	Brachydactyly Type A5
Brachydactyly Type A7	Brachydactyly of Toes

Diseases related to Brachydactyly, Type C via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly	29.6	BMPR1B GDF5
2	brachydactyly, type a2	29.1	BMPR1B GDF5
3	proximal symphalangism	29.0	BMPR1B GDF5
4	bazex syndrome	11.2
5	collecting duct carcinoma	11.1
6	angel-shaped phalangoepiphyseal dysplasia	11.0
7	heart-hand syndrome, spanish type	11.0
8	catel-manzke syndrome	11.0
9	acromesomelic dysplasia, hunter-thompson type	9.7	BMPR1B GDF5
10	chondrodysplasia, grebe type	9.7	BMPR1B GDF5
11	fibular hypoplasia and complex brachydactyly	9.7	BMPR1B GDF5
12	brachydactyly, type a1	9.7	BMPR1B GDF5
13	acromesomelic dysplasia	9.6	BMPR1B GDF5
14	multiple synostoses syndrome	9.5	BMPR1B GDF5

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

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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

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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

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Genetic Tests for Brachydactyly, Type C

Genetic tests related to Brachydactyly, Type C:

#	Genetic test	Affiliating Genes
1	Brachydactyly Type C ²⁸	GDF5

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Anatomical Context for Brachydactyly, Type C

MalaCards organs/tissues related to Brachydactyly, Type C:

³⁸

Bone

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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 )	Stange K....Seemann P.	2015
2	Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810 )	Al-Qattan M.M....Al Balwi M.A.	2015
3	Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. ( 24715855 )	Uyguner Z.O....Kayserili H.	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 )	Stange K....Seemann P.	2014
5	Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. ( 23483675 )	Seo S.H....Seong M.W.	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 )	Farooq M....Shimomura Y.	2013
7	A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. ( 22828468 )	Gutierrez-Amavizca B.E....Barros-Nunez P.	2012
8	Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. ( 18283415 )	Yang W....Zhang X.	2008
9	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. ( 16957682 )	Lehmann K....Mundlos S.	2006
10	Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. ( 14735582 )	Schwabe G.C....Mundlos S.	2004
11	Severe aplastic anaemia in a child with brachydactyly type C. ( 12542502 )	Svarch E....Gale R.P.	2003
12	The mutational spectrum of brachydactyly type C. ( 12357473 )	Everman D.B....Warman M.L.	2002
13	Brachydactyly type C. ( 11172365 )	Burgess R.C.	2001
14	Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. ( 11169564 )	Galjaard R.J....Heutink P.	2001
15	Clinical and locus heterogeneity in brachydactyly type C. ( 9024575 )	Robin N.H....Morrison S.	1997
16	Mutations in CDMP1 cause autosomal dominant brachydactyly type C. ( 9288091 )	Polinkovsky A....Warman M.L.	1997
17	Brachydactyly type C gene maps to human chromsome 12q24. ( 8954778 )	Polymeropoulos M.H....Francomano C.A.	1996
18	Pitfalls of genetic counselling in brachydactyly type C. ( 7856649 )	Camera G....Mantero R.	1994
19	Brachydactyly type C associated with shortening of the hallux. ( 1583664 )	Rowe-Jones J.M....Patton M.A.	1992
20	Recessively inherited brachydactyly type C. ( 6842546 )	Baraitser M....Burn J.	1983

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Genes for Brachydactyly, Type C

Genes related to Brachydactyly, Type C (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	GDF5	Growth Differentiation Factor 5	Protein Coding	1690.01	Molecular basis known ⁵³ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁵ Causative variation ⁷¹ Genetic Tests ²⁸ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications (show sections)	12357473 13953230 14735582 (more) 12567410 18283415 12357473 12567410 14735582
2	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	42.54	Candidate gene tested ⁵⁵ GeneCards inferred via : Publications (show sections)

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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

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Expression for Brachydactyly, Type C

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

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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	Hippo signaling pathway ³⁶	11.14	BMPR1B GDF5
2	TGF-beta signaling pathway (KEGG) ³⁶	10.55	BMPR1B GDF5

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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

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Sources for Brachydactyly, Type C

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia