MCID: MSC134
MIFTS: 31

Musculocontractural Ehlers-Danlos Syndrome

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Musculocontractural Ehlers-Danlos Syndrome

MalaCards integrated aliases for Musculocontractural Ehlers-Danlos Syndrome:

Name: Musculocontractural Ehlers-Danlos Syndrome 54 60
Ehlers-Danlos Syndrome, Musculocontractural Type 54 30 13 6 41
Mceds 54 60
Distal Arthrogryposis with Peculiar Facies and Hydronephrosis 60
Autosomal Recessive Adducted Thumb-Club Foot Syndrome 54
Ehlers-Danlos Syndrome, Musculocontractural Type 1 74
Ehlers-Danlos Syndrome Musculocontractural Type 38
Ehlers-Danlos Syndrome, Kosho Type 60
Adducted Thumb-Clubfoot Syndrome 60
Adducted Thumb Clubfoot Syndrome 54
Musculocontractural Eds 54
Dündar Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
musculocontractural ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

KEGG 38 H02246
ICD10 via Orphanet 35 Q79.6
Orphanet 60 ORPHA2953
UMLS 74 C1866294

Summaries for Musculocontractural Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessiveconnective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. This condition is caused by mutations in the CHST14 gene. 

MalaCards based summary : Musculocontractural Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, musculocontractural type, is related to ehlers-danlos syndrome and ehlers-danlos syndrome, musculocontractural type, 2, and has symptoms including constipation An important gene associated with Musculocontractural Ehlers-Danlos Syndrome is CHST14 (Carbohydrate Sulfotransferase 14), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan metabolism. Affiliated tissues include skin, bone and testis, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and integument

Related Diseases for Musculocontractural Ehlers-Danlos Syndrome

Diseases in the Musculocontractural Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Ehlers-Danlos Syndrome, Musculocontractural Type, 2

Diseases related to Musculocontractural Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.3 CHST14 DSE
2 ehlers-danlos syndrome, musculocontractural type, 2 10.5
3 ehlers-danlos syndrome, musculocontractural type, 1 10.4
4 clubfoot 10.4
5 marden-walker syndrome 10.3

Graphical network of the top 20 diseases related to Musculocontractural Ehlers-Danlos Syndrome:



Diseases related to Musculocontractural Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Musculocontractural Ehlers-Danlos Syndrome

UMLS symptoms related to Musculocontractural Ehlers-Danlos Syndrome:


constipation

GenomeRNAi Phenotypes related to Musculocontractural Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.8 CHST14 DSE P4HA1

MGI Mouse Phenotypes related to Musculocontractural Ehlers-Danlos Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 CHST14 DSE P4HA1
2 limbs/digits/tail MP:0005371 8.8 CHST14 DSE P4HA1

Drugs & Therapeutics for Musculocontractural Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Musculocontractural Ehlers-Danlos Syndrome

Genetic Tests for Musculocontractural Ehlers-Danlos Syndrome

Genetic tests related to Musculocontractural Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Musculocontractural Type 30 CHST14

Anatomical Context for Musculocontractural Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Musculocontractural Ehlers-Danlos Syndrome:

42
Skin, Bone, Testis

Publications for Musculocontractural Ehlers-Danlos Syndrome

Articles related to Musculocontractural Ehlers-Danlos Syndrome:

(show all 17)
# Title Authors Year
1
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). ( 30195269 )
2018
2
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. ( 26373698 )
2016
3
Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin. ( 27101845 )
2016
4
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. ( 25703627 )
2015
5
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. ( 23704329 )
2013
6
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. ( 22581468 )
2012
7
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. ( 20842734 )
2010
8
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ( 20503305 )
2010
9
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. ( 20533528 )
2010
10
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. ( 20004762 )
2009
11
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. ( 16158441 )
2005
12
Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. ( 12508273 )
2003
13
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. ( 11370633 )
2001
14
A case with adducted thumb and club foot syndrome. ( 11666007 )
2001
15
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? ( 10766984 )
2000
16
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. ( 9084938 )
1997
17
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. ( 1184396 )
1975

Variations for Musculocontractural Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Musculocontractural Ehlers-Danlos Syndrome:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHST14 NM_130468.3(CHST14): c.145delG (p.Val49Terfs) deletion Pathogenic rs397518432 GRCh37 Chromosome 15, 40763557: 40763557
2 CHST14 NM_130468.3(CHST14): c.145delG (p.Val49Terfs) deletion Pathogenic rs397518432 GRCh38 Chromosome 15, 40471358: 40471358
3 CHST14 NM_130468.3(CHST14): c.638G> C (p.Arg213Pro) single nucleotide variant Pathogenic rs121908257 GRCh37 Chromosome 15, 40764050: 40764050
4 CHST14 NM_130468.3(CHST14): c.638G> C (p.Arg213Pro) single nucleotide variant Pathogenic rs121908257 GRCh38 Chromosome 15, 40471851: 40471851
5 CHST14 NM_130468.3(CHST14): c.878A> G (p.Tyr293Cys) single nucleotide variant Likely pathogenic rs121908258 GRCh37 Chromosome 15, 40764290: 40764290
6 CHST14 NM_130468.3(CHST14): c.878A> G (p.Tyr293Cys) single nucleotide variant Likely pathogenic rs121908258 GRCh38 Chromosome 15, 40472091: 40472091
7 CHST14 NM_130468.3(CHST14): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs267606729 GRCh37 Chromosome 15, 40764254: 40764254
8 CHST14 NM_130468.3(CHST14): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs267606729 GRCh38 Chromosome 15, 40472055: 40472055
9 CHST14 NM_130468.3(CHST14): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs267606730 GRCh37 Chromosome 15, 40763617: 40763617
10 CHST14 NM_130468.3(CHST14): c.205A> T (p.Lys69Ter) single nucleotide variant Pathogenic rs267606730 GRCh38 Chromosome 15, 40471418: 40471418
11 CHST14 NM_130468.3(CHST14): c.866G> C (p.Cys289Ser) single nucleotide variant Pathogenic rs267606731 GRCh37 Chromosome 15, 40764278: 40764278
12 CHST14 NM_130468.3(CHST14): c.866G> C (p.Cys289Ser) single nucleotide variant Pathogenic rs267606731 GRCh38 Chromosome 15, 40472079: 40472079
13 CHST14 NM_130468.3(CHST14): c.981_1000dup (p.Glu334Glyfs) duplication Pathogenic rs1555410785 GRCh37 Chromosome 15, 40764393: 40764412
14 CHST14 NM_130468.3(CHST14): c.981_1000dup (p.Glu334Glyfs) duplication Pathogenic rs1555410785 GRCh38 Chromosome 15, 40472194: 40472213
15 CHST14 NM_130468.3(CHST14): c.821G> C (p.Arg274Pro) single nucleotide variant Pathogenic rs397514706 GRCh37 Chromosome 15, 40764233: 40764233
16 CHST14 NM_130468.3(CHST14): c.821G> C (p.Arg274Pro) single nucleotide variant Pathogenic rs397514706 GRCh38 Chromosome 15, 40472034: 40472034
17 CHST14 NM_130468.3(CHST14): c.807T> C (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139229738 GRCh38 Chromosome 15, 40472020: 40472020
18 CHST14 NM_130468.3(CHST14): c.807T> C (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139229738 GRCh37 Chromosome 15, 40764219: 40764219
19 CHST14 NM_130468.3(CHST14): c.635T> C (p.Val212Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144629123 GRCh37 Chromosome 15, 40764047: 40764047
20 CHST14 NM_130468.3(CHST14): c.635T> C (p.Val212Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144629123 GRCh38 Chromosome 15, 40471848: 40471848
21 CHST14 NM_130468.3(CHST14): c.784G> A (p.Glu262Lys) single nucleotide variant Likely pathogenic rs1247205097 GRCh38 Chromosome 15, 40471997: 40471997
22 CHST14 NM_130468.3(CHST14): c.784G> A (p.Glu262Lys) single nucleotide variant Likely pathogenic rs1247205097 GRCh37 Chromosome 15, 40764196: 40764196
23 CHST14 NM_130468.3(CHST14): c.1033C> T (p.Arg345Trp) single nucleotide variant Uncertain significance rs372422727 GRCh38 Chromosome 15, 40472246: 40472246
24 CHST14 NM_130468.3(CHST14): c.1033C> T (p.Arg345Trp) single nucleotide variant Uncertain significance rs372422727 GRCh37 Chromosome 15, 40764445: 40764445
25 CHST14 NM_130468.3(CHST14): c.403C> G (p.Arg135Gly) single nucleotide variant no interpretation for the single variant rs267606727 GRCh38 Chromosome 15, 40471616: 40471616
26 CHST14 NM_130468.3(CHST14): c.403C> G (p.Arg135Gly) single nucleotide variant no interpretation for the single variant rs267606727 GRCh37 Chromosome 15, 40763815: 40763815
27 CHST14 NM_130468.3(CHST14): c.410T> A (p.Leu137Gln) single nucleotide variant no interpretation for the single variant rs267606728 GRCh37 Chromosome 15, 40763822: 40763822
28 CHST14 NM_130468.3(CHST14): c.410T> A (p.Leu137Gln) single nucleotide variant no interpretation for the single variant rs267606728 GRCh38 Chromosome 15, 40471623: 40471623
29 CHST14 NM_130468.3(CHST14): c.453dup (p.Cys152Leufs) duplication Pathogenic rs1555410747 GRCh38 Chromosome 15, 40471666: 40471666
30 CHST14 NM_130468.3(CHST14): c.453dup (p.Cys152Leufs) duplication Pathogenic rs1555410747 GRCh37 Chromosome 15, 40763865: 40763865
31 CHST14 NM_130468.3(CHST14): c.148A> T (p.Ile50Phe) single nucleotide variant Uncertain significance rs1046833753 GRCh38 Chromosome 15, 40471361: 40471361
32 CHST14 NM_130468.3(CHST14): c.148A> T (p.Ile50Phe) single nucleotide variant Uncertain significance rs1046833753 GRCh37 Chromosome 15, 40763560: 40763560
33 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance rs1555410748 GRCh37 Chromosome 15, 40763880: 40763880
34 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance rs1555410748 GRCh38 Chromosome 15, 40471681: 40471681
35 CHST14 NM_130468.3(CHST14): c.471G> A (p.Val157=) single nucleotide variant Likely benign rs200761477 GRCh37 Chromosome 15, 40763883: 40763883
36 CHST14 NM_130468.3(CHST14): c.471G> A (p.Val157=) single nucleotide variant Likely benign rs200761477 GRCh38 Chromosome 15, 40471684: 40471684
37 CHST14 NM_130468.3(CHST14): c.849C> T (p.Tyr283=) single nucleotide variant Likely benign rs1438289059 GRCh37 Chromosome 15, 40764261: 40764261
38 CHST14 NM_130468.3(CHST14): c.849C> T (p.Tyr283=) single nucleotide variant Likely benign rs1438289059 GRCh38 Chromosome 15, 40472062: 40472062
39 CHST14 NM_130468.3(CHST14): c.275G> T (p.Gly92Val) single nucleotide variant Uncertain significance rs754720949 GRCh38 Chromosome 15, 40471488: 40471488
40 CHST14 NM_130468.3(CHST14): c.275G> T (p.Gly92Val) single nucleotide variant Uncertain significance rs754720949 GRCh37 Chromosome 15, 40763687: 40763687
41 CHST14 NM_130468.3(CHST14): c.1081C> G (p.Leu361Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40764493: 40764493
42 CHST14 NM_130468.3(CHST14): c.1081C> G (p.Leu361Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40472294: 40472294
43 CHST14 NM_130468.3(CHST14): c.130A> G (p.Met44Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40763542: 40763542
44 CHST14 NM_130468.3(CHST14): c.130A> G (p.Met44Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40471343: 40471343
45 CHST14 NM_130468.3(CHST14): c.160dup (p.Ser54Lysfs) duplication Likely pathogenic GRCh37 Chromosome 15, 40763572: 40763572
46 CHST14 NM_130468.3(CHST14): c.160dup (p.Ser54Lysfs) duplication Likely pathogenic GRCh38 Chromosome 15, 40471373: 40471373
47 CHST14 NM_130468.3(CHST14): c.869C> T (p.Ala290Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40764281: 40764281
48 CHST14 NM_130468.3(CHST14): c.869C> T (p.Ala290Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40472082: 40472082

Expression for Musculocontractural Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Musculocontractural Ehlers-Danlos Syndrome.

Pathways for Musculocontractural Ehlers-Danlos Syndrome

Pathways related to Musculocontractural Ehlers-Danlos Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

GO Terms for Musculocontractural Ehlers-Danlos Syndrome

Cellular components related to Musculocontractural Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.62 CHST14 DSE

Biological processes related to Musculocontractural Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dermatan sulfate biosynthetic process GO:0030208 8.62 CHST14 DSE

Sources for Musculocontractural Ehlers-Danlos Syndrome

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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