MCID: MSC134
MIFTS: 28

Musculocontractural Ehlers-Danlos Syndrome

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

Aliases & Classifications for Musculocontractural Ehlers-Danlos Syndrome

MalaCards integrated aliases for Musculocontractural Ehlers-Danlos Syndrome:

Name: Musculocontractural Ehlers-Danlos Syndrome 53 59
Ehlers-Danlos Syndrome, Musculocontractural Type 53 59 29 13 6 40
Mceds 53 59
Autosomal Recessive Adducted Thumb-Club Foot Syndrome 53
Ehlers-Danlos Syndrome, Musculocontractural Type 1 73
Ehlers-Danlos Syndrome, Kosho Type 59
Adducted Thumb-Clubfoot Syndrome 59
Adducted Thumb Clubfoot Syndrome 53
Eds, Musculocontractural Type 59
Musculocontractural Eds 53

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, musculocontractural type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA2953
ICD10 via Orphanet 34 Q79.6
UMLS 73 C1866294

Summaries for Musculocontractural Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 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 metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include skin and bone, 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 29.2 CHST14 DSE
2 ehlers-danlos syndrome, musculocontractural type, 2 12.7
3 ehlers-danlos syndrome, musculocontractural type, 1 10.2
4 clubfoot 10.2

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 P4HA1 CHST14 DSE
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 29 CHST14

Anatomical Context for Musculocontractural Ehlers-Danlos Syndrome

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

41
Skin, Bone

Publications for Musculocontractural Ehlers-Danlos Syndrome

Articles related to Musculocontractural Ehlers-Danlos Syndrome:

# Title Authors Year
1
Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin. ( 27101845 )
2016
2
Genetic heterogeneity and clinical variability in musculocontractural ehlers-danlos syndrome caused by impaired dermatan sulfate biosynthesis. ( 25703627 )
2015
3
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. ( 23704329 )
2013
4
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. ( 22581468 )
2012
5
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

Variations for Musculocontractural Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Musculocontractural Ehlers-Danlos Syndrome:

6
(show all 42)
# 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 GRCh37 Chromosome 15, 40764393: 40764412
14 CHST14 NM_130468.3(CHST14): c.981_1000dup (p.Glu334Glyfs) duplication Pathogenic 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.567delG (p.Phe190Serfs) deletion Pathogenic rs794726956 GRCh37 Chromosome 15, 40763979: 40763979
18 CHST14 NM_130468.3(CHST14): c.567delG (p.Phe190Serfs) deletion Pathogenic rs794726956 GRCh38 Chromosome 15, 40471780: 40471780
19 CHST14 NM_130468.3(CHST14): c.807T> C (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139229738 GRCh38 Chromosome 15, 40472020: 40472020
20 CHST14 NM_130468.3(CHST14): c.807T> C (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139229738 GRCh37 Chromosome 15, 40764219: 40764219
21 CHST14 NM_130468.3(CHST14): c.635T> C (p.Val212Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144629123 GRCh38 Chromosome 15, 40471848: 40471848
22 CHST14 NM_130468.3(CHST14): c.635T> C (p.Val212Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144629123 GRCh37 Chromosome 15, 40764047: 40764047
23 CHST14 NM_130468.3(CHST14): c.784G> A (p.Glu262Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 40471997: 40471997
24 CHST14 NM_130468.3(CHST14): c.784G> A (p.Glu262Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 40764196: 40764196
25 CHST14 NM_130468.3(CHST14): c.1033C> T (p.Arg345Trp) single nucleotide variant Uncertain significance rs372422727 GRCh38 Chromosome 15, 40472246: 40472246
26 CHST14 NM_130468.3(CHST14): c.1033C> T (p.Arg345Trp) single nucleotide variant Uncertain significance rs372422727 GRCh37 Chromosome 15, 40764445: 40764445
27 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
28 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
29 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
30 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
31 CHST14 NM_130468.3(CHST14): c.453dup (p.Cys152Leufs) duplication Pathogenic GRCh38 Chromosome 15, 40471666: 40471666
32 CHST14 NM_130468.3(CHST14): c.453dup (p.Cys152Leufs) duplication Pathogenic GRCh37 Chromosome 15, 40763865: 40763865
33 CHST14 NM_130468.3(CHST14): c.148A> T (p.Ile50Phe) single nucleotide variant Uncertain significance rs1046833753 GRCh37 Chromosome 15, 40763560: 40763560
34 CHST14 NM_130468.3(CHST14): c.148A> T (p.Ile50Phe) single nucleotide variant Uncertain significance rs1046833753 GRCh38 Chromosome 15, 40471361: 40471361
35 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40471681: 40471681
36 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40763880: 40763880
37 CHST14 NM_130468.3(CHST14): c.471G> A (p.Val157=) single nucleotide variant Likely benign rs200761477 GRCh37 Chromosome 15, 40763883: 40763883
38 CHST14 NM_130468.3(CHST14): c.471G> A (p.Val157=) single nucleotide variant Likely benign rs200761477 GRCh38 Chromosome 15, 40471684: 40471684
39 CHST14 NM_130468.3(CHST14): c.849C> T (p.Tyr283=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 40764261: 40764261
40 CHST14 NM_130468.3(CHST14): c.849C> T (p.Tyr283=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 40472062: 40472062
41 CHST14 NM_130468.3(CHST14): c.275G> T (p.Gly92Val) single nucleotide variant Uncertain significance rs754720949 GRCh38 Chromosome 15, 40471488: 40471488
42 CHST14 NM_130468.3(CHST14): c.275G> T (p.Gly92Val) single nucleotide variant Uncertain significance rs754720949 GRCh37 Chromosome 15, 40763687: 40763687

Expression for Musculocontractural Ehlers-Danlos Syndrome

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

Pathways for Musculocontractural Ehlers-Danlos Syndrome

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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