MCEDS
MCID: MSC134
MIFTS: 33

Musculocontractural Ehlers-Danlos Syndrome (MCEDS)

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 52 58
Ehlers-Danlos Syndrome, Musculocontractural Type 52 29 6 39
Mceds 52 58
Distal Arthrogryposis with Peculiar Facies and Hydronephrosis 58
Autosomal Recessive Adducted Thumb-Club Foot Syndrome 52
Ehlers-Danlos Syndrome, Musculocontractural Type 1 71
Ehlers-Danlos Syndrome Musculocontractural Type 36
Ehlers-Danlos Syndrome, Kosho Type 58
Adducted Thumb-Clubfoot Syndrome 58
Adducted Thumb Clubfoot Syndrome 52
Musculocontractural Eds 52
Dundar Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
musculocontractural ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H02246
ICD10 via Orphanet 33 Q79.6
Orphanet 58 ORPHA2953
UMLS 71 C1866294

Summaries for Musculocontractural Ehlers-Danlos Syndrome

KEGG : 36 Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. EDSMC is caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan sulfate epimerase-1, have been identified in a child with EDSMC features.

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, 1, 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 is Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate. Affiliated tissues include skin, heart and bone, and related phenotypes are hypertelorism and high palate

NIH Rare Diseases : 52 Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective 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 .

Related Diseases for Musculocontractural Ehlers-Danlos Syndrome

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

Human phenotypes related to Musculocontractural Ehlers-Danlos Syndrome:

58 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 Very frequent (99-80%)
2 high palate 58 Very frequent (99-80%)
3 muscle weakness 58 Very frequent (99-80%)
4 constipation 58 Frequent (79-30%)
5 scoliosis 58 Very frequent (99-80%)
6 inguinal hernia 58 Very rare (<4-1%)
7 hearing impairment 58 Occasional (29-5%)
8 macrotia 58 Very frequent (99-80%)
9 short nose 58 Very frequent (99-80%)
10 cryptorchidism 58 Very frequent (99-80%)
11 horseshoe kidney 58 Very rare (<4-1%)
12 downslanted palpebral fissures 58 Very frequent (99-80%)
13 craniosynostosis 58 Occasional (29-5%)
14 delayed gross motor development 58 Very frequent (99-80%)
15 arthrogryposis multiplex congenita 58 Very frequent (99-80%)
16 myopathy 58 Frequent (79-30%)
17 decreased muscle mass 58 Very frequent (99-80%)
18 cleft palate 58 Occasional (29-5%)
19 long philtrum 58 Very frequent (99-80%)
20 abnormal bleeding 58 Very frequent (99-80%)
21 protruding ear 58 Very frequent (99-80%)
22 abnormal heart valve morphology 58 Occasional (29-5%)
23 strabismus 58 Frequent (79-30%)
24 narrow mouth 58 Very frequent (99-80%)
25 myopia 58 Frequent (79-30%)
26 external ear malformation 58 Very frequent (99-80%)
27 ventriculomegaly 58 Occasional (29-5%)
28 kyphoscoliosis 58 Frequent (79-30%)
29 thin upper lip vermilion 58 Very frequent (99-80%)
30 hydronephrosis 58 Occasional (29-5%)
31 glaucoma 58 Occasional (29-5%)
32 retinal detachment 58 Frequent (79-30%)
33 low-set, posteriorly rotated ears 58 Very frequent (99-80%)
34 disproportionate tall stature 58 Very frequent (99-80%)
35 nephrolithiasis 58 Occasional (29-5%)
36 bruising susceptibility 58 Very frequent (99-80%)
37 redundant skin 58 Frequent (79-30%)
38 slender finger 58 Very frequent (99-80%)
39 subcutaneous hemorrhage 58 Very frequent (99-80%)
40 large fontanelles 58 Very frequent (99-80%)
41 microretrognathia 58 Frequent (79-30%)
42 blue sclerae 58 Very frequent (99-80%)
43 hyperextensible skin 58 Very frequent (99-80%)
44 tapered finger 58 Frequent (79-30%)
45 abnormality of the sternum 58 Very frequent (99-80%)
46 astigmatism 58 Frequent (79-30%)
47 recurrent skin infections 58 Frequent (79-30%)
48 abnormality of the cervical spine 58 Very frequent (99-80%)
49 abnormality of mesentery morphology 58 Occasional (29-5%)
50 abnormal heart morphology 58 Occasional (29-5%)

UMLS symptoms related to Musculocontractural Ehlers-Danlos Syndrome:


constipation

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:

40
Skin, Heart, Bone, Kidney, Testis

Publications for Musculocontractural Ehlers-Danlos Syndrome

Articles related to Musculocontractural Ehlers-Danlos Syndrome:

(show all 20)
# Title Authors PMID Year
1
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. 61 6
25703627 2015
2
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. 6 61
23704329 2013
3
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. 6 61
22581468 2012
4
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. 61 6
20842734 2010
5
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 6
26373698 2016
6
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 6
20533528 2010
7
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 6
20503305 2010
8
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. 6
20004762 2009
9
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 6
16158441 2005
10
Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. 6
12508273 2003
11
A case with adducted thumb and club foot syndrome. 6
11666007 2001
12
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. 6
11370633 2001
13
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? 6
10766984 2000
14
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. 6
9084938 1997
15
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. 6
1184396 1975
16
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. 61
31655143 2019
17
Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14. 61
30553867 2019
18
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). 61
30195269 2018
19
Gene expression of the two developmentally regulated dermatan sulfate epimerases in the Xenopus embryo. 61
29370293 2018
20
Musculocontractural Ehlers-Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin. 61
27101845 2016

Variations for Musculocontractural Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Musculocontractural Ehlers-Danlos Syndrome:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHST14 NM_130468.3(CHST14):c.842C>T (p.Pro281Leu)SNV Pathogenic 2340 rs267606729 15:40764254-40764254 15:40472055-40472055
2 CHST14 NM_130468.3(CHST14):c.205A>T (p.Lys69Ter)SNV Pathogenic 2341 rs267606730 15:40763617-40763617 15:40471418-40471418
3 CHST14 NM_130468.3(CHST14):c.866G>C (p.Cys289Ser)SNV Pathogenic 2342 rs267606731 15:40764278-40764278 15:40472079-40472079
4 CHST14 NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs)duplication Pathogenic 18421 rs1555410785 15:40764393-40764412 15:40472194-40472213
5 CHST14 NM_130468.3(CHST14):c.821G>C (p.Arg274Pro)SNV Pathogenic 50992 rs397514706 15:40764233-40764233 15:40472034-40472034
6 CHST14 NM_130468.3(CHST14):c.453dup (p.Cys152fs)duplication Pathogenic 446173 rs1555410747 15:40763865-40763865 15:40471666-40471666
7 CHST14 NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer)deletion Pathogenic 2336 rs397518432 15:40763557-40763557 15:40471358-40471358
8 CHST14 NM_130468.3(CHST14):c.638G>C (p.Arg213Pro)SNV Pathogenic 2337 rs121908257 15:40764050-40764050 15:40471851-40471851
9 CHST14 NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs)indel Pathogenic 653458 15:40763939-40763942 15:40471740-40471743
10 CHST14 NM_130468.3(CHST14):c.160dup (p.Ser54fs)duplication Likely pathogenic 575403 rs1566969054 15:40763572-40763572 15:40471373-40471373
11 CHST14 NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys)SNV Likely pathogenic 2339 rs121908258 15:40764290-40764290 15:40472091-40472091
12 CHST14 NM_130468.3(CHST14):c.784G>A (p.Glu262Lys)SNV Likely pathogenic 434766 rs1247205097 15:40764196-40764196 15:40471997-40471997
13 CHST14 NM_130468.3(CHST14):c.807T>C (p.Asp269=)SNV Conflicting interpretations of pathogenicity 262313 rs139229738 15:40764219-40764219 15:40472020-40472020
14 CHST14 NM_130468.3(CHST14):c.635T>C (p.Val212Ala)SNV Conflicting interpretations of pathogenicity 373593 rs144629123 15:40764047-40764047 15:40471848-40471848
15 CHST14 NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp)SNV Uncertain significance 440975 rs372422727 15:40764445-40764445 15:40472246-40472246
16 CHST14 NM_130468.3(CHST14):c.275G>T (p.Gly92Val)SNV Uncertain significance 536423 rs754720949 15:40763687-40763687 15:40471488-40471488
17 CHST14 NM_130468.3(CHST14):c.1081C>G (p.Leu361Val)SNV Uncertain significance 579085 rs1566969372 15:40764493-40764493 15:40472294-40472294
18 CHST14 NM_130468.3(CHST14):c.130A>G (p.Met44Val)SNV Uncertain significance 579161 15:40763542-40763542 15:40471343-40471343
19 CHST14 NM_130468.3(CHST14):c.148A>T (p.Ile50Phe)SNV Uncertain significance 468548 rs1046833753 15:40763560-40763560 15:40471361-40471361
20 CHST14 NM_130468.3(CHST14):c.468G>C (p.Lys156Asn)SNV Uncertain significance 468549 rs1555410748 15:40763880-40763880 15:40471681-40471681
21 CHST14 NM_130468.3(CHST14):c.869C>T (p.Ala290Val)SNV Uncertain significance 579344 15:40764281-40764281 15:40472082-40472082
22 CHST14 NM_130468.3(CHST14):c.77C>T (p.Pro26Leu)SNV Uncertain significance 656214 15:40763489-40763489 15:40471290-40471290
23 CHST14 NM_130468.3(CHST14):c.158C>A (p.Ser53Tyr)SNV Uncertain significance 641726 15:40763570-40763570 15:40471371-40471371
24 CHST14 NM_130468.3(CHST14):c.250C>A (p.Arg84Ser)SNV Uncertain significance 663357 15:40763662-40763662 15:40471463-40471463
25 CHST14 NM_130468.3(CHST14):c.548A>G (p.Asp183Gly)SNV Uncertain significance 650778 15:40763960-40763960 15:40471761-40471761
26 CHST14 NM_130468.3(CHST14):c.471G>A (p.Val157=)SNV Likely benign 536424 rs200761477 15:40763883-40763883 15:40471684-40471684
27 CHST14 NM_130468.3(CHST14):c.849C>T (p.Tyr283=)SNV Likely benign 536425 rs1438289059 15:40764261-40764261 15:40472062-40472062
28 CHST14 NM_130468.3(CHST14):c.403C>G (p.Arg135Gly)SNV no interpretation for the single variant 242816 rs267606727 15:40763815-40763815 15:40471616-40471616
29 CHST14 NM_130468.3(CHST14):c.410T>A (p.Leu137Gln)SNV no interpretation for the single variant 242734 rs267606728 15:40763822-40763822 15:40471623-40471623

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:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

GO Terms for Musculocontractural Ehlers-Danlos Syndrome

Sources for Musculocontractural Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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