MCEDS
MCID: MSC134
MIFTS: 39

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 20 58
Ehlers-Danlos Syndrome, Musculocontractural Type 20 29 6
Musculocontractural Eds 20 58
Mceds 20 58
Distal Arthrogryposis with Peculiar Facies and Hydronephrosis 58
Autosomal Recessive Adducted Thumb-Club Foot Syndrome 20
Ehlers-Danlos Syndrome, Musculocontractural Type 1 70
Ehlers-Danlos Syndrome Musculocontractural Type 36
Syndrome, Ehlers-Danlos, Musculocontractural 39
Ehlers-Danlos Syndrome, Kosho Type 58
Adducted Thumb-Clubfoot Syndrome 58
Adducted Thumb Clubfoot Syndrome 20
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


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, 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 heart, kidney and skin, and related phenotypes are high palate and muscle weakness

GARD : 20 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

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:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.7 DSE CHST14
2 ehlers-danlos syndrome, musculocontractural type, 2 30.1 DSE CHST14
3 ehlers-danlos syndrome, musculocontractural type, 1 10.5
4 clubfoot 10.5
5 telecanthus 10.4
6 multiple pterygium syndrome, escobar variant 10.4
7 distal arthrogryposis 10.4
8 congenital amyoplasia 10.4
9 brittle cornea syndrome 1 10.4
10 scoliosis 10.4
11 marden-walker syndrome 10.2
12 autosomal recessive disease 10.2
13 blepharophimosis 10.2
14 microcephaly 10.2
15 myopia 10.2
16 entropion 10.2
17 heart septal defect 10.2
18 atrial heart septal defect 10.2
19 hypertelorism 10.2
20 acrogeria, gottron type 10.2
21 disseminated intravascular coagulation 10.2
22 pneumothorax 10.2
23 melanoma 10.2
24 exostosis 10.2
25 neuroblastoma 10.2
26 refractive error 10.2
27 hypermobile ehlers-danlos syndrome 10.2
28 plod1-related kyphoscoliotic ehlers-danlos syndrome 10.2
29 congenital contractures 10.2
30 back pain 10.2
31 hypotonia 10.2
32 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
33 inguinal hernia 10.1
34 larsen-like syndrome b3gat3 type 9.7 DSE CHST14
35 larsen syndrome 9.6 DSE CHST14
36 collagen disease 9.6 DSE CHST14
37 ehlers-danlos syndrome, classic type, 1 9.5 DSE CHST14

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 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
7 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
8 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
9 disproportionate tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001519
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
12 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
13 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
14 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
15 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
16 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
17 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
18 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
19 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
20 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
21 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
22 slender finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001238
23 atrophic scars 58 31 hallmark (90%) Very frequent (99-80%) HP:0001075
24 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
25 decreased palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0006184
26 prominent nasolabial fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0005272
27 hyperalgesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0031005
28 recurrent joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0031869
29 abnormal sternum morphology 31 hallmark (90%) HP:0000766
30 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
31 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
32 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
33 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
34 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
35 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
36 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
37 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
38 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
39 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
40 cervical kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002947
41 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
42 ocular hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0007906
43 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
44 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
45 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
46 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
47 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
48 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
49 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
50 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363

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

Anatomical Context for Musculocontractural Ehlers-Danlos Syndrome

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

40
Heart, Kidney, Skin

Publications for Musculocontractural Ehlers-Danlos Syndrome

Articles related to Musculocontractural Ehlers-Danlos Syndrome:

(show all 21)
# 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. 61 6
23704329 2013
3
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. 6 61
20842734 2010
4
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. 6
28238810 2017
5
A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing. 6
26925854 2016
6
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back. 6
26872206 2016
7
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 6
26373698 2016
8
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. 6
22987394 2012
9
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. 6
21744491 2011
10
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 6
20533528 2010
11
Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14). 61
32601684 2021
12
Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases. 61
32822956 2020
13
Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery. 61
32529513 2020
14
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
15
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. 61
31655143 2020
16
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. 61
31905796 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
21
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. 61
22581468 2012

Variations for Musculocontractural Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Musculocontractural Ehlers-Danlos Syndrome:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSE NM_013352.4(DSE):c.803C>T (p.Ser268Leu) SNV Pathogenic 88848 rs398122361 GRCh37: 6:116752249-116752249
GRCh38: 6:116431086-116431086
2 DSE NM_013352.4(DSE):c.799A>G (p.Arg267Gly) SNV Pathogenic 446171 rs1554227382 GRCh37: 6:116752245-116752245
GRCh38: 6:116431082-116431082
3 CHST14 NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) SNV Pathogenic 2340 rs267606729 GRCh37: 15:40764254-40764254
GRCh38: 15:40472055-40472055
4 CHST14 NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs) Indel Pathogenic 653458 rs1595869467 GRCh37: 15:40763939-40763942
GRCh38: 15:40471740-40471743
5 CHST14 NM_130468.4(CHST14):c.797dup (p.Tyr266Ter) Duplication Pathogenic 816708 rs1595869602 GRCh37: 15:40764208-40764209
GRCh38: 15:40472009-40472010
6 CHST14 NM_130468.3(CHST14):c.160dup (p.Ser54fs) Duplication Likely pathogenic 575403 rs1566969054 GRCh37: 15:40763571-40763572
GRCh38: 15:40471372-40471373
7 CHST14 NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) SNV Likely pathogenic 434766 rs1247205097 GRCh37: 15:40764196-40764196
GRCh38: 15:40471997-40471997
8 DSE NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) SNV Conflicting interpretations of pathogenicity 739017 rs61741781 GRCh37: 6:116757592-116757592
GRCh38: 6:116436429-116436429
9 DSE NM_013352.4(DSE):c.2215G>T (p.Ala739Ser) SNV Uncertain significance 1030280 GRCh37: 6:116757846-116757846
GRCh38: 6:116436683-116436683
10 DSE NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) SNV Uncertain significance 1030281 GRCh37: 6:116758392-116758392
GRCh38: 6:116437229-116437229
11 DSE NM_013352.4(DSE):c.359T>C (p.Ile120Thr) SNV Uncertain significance 391864 rs147451395 GRCh37: 6:116720772-116720772
GRCh38: 6:116399609-116399609
12 DSE NM_013352.4(DSE):c.364G>A (p.Ala122Thr) SNV Uncertain significance 1030282 GRCh37: 6:116720777-116720777
GRCh38: 6:116399614-116399614
13 DSE NM_013352.4(DSE):c.95T>A (p.Met32Lys) SNV Uncertain significance 1030283 GRCh37: 6:116720508-116720508
GRCh38: 6:116399345-116399345
14 CHST14 NM_130468.3(CHST14):c.796T>C (p.Tyr266His) SNV Uncertain significance 499921 rs377155775 GRCh37: 15:40764208-40764208
GRCh38: 15:40472009-40472009
15 CHST14 NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) SNV Uncertain significance 1042108 GRCh37: 15:40763707-40763707
GRCh38: 15:40471508-40471508
16 CHST14 NM_130468.4(CHST14):c.32C>T (p.Ala11Val) SNV Uncertain significance 1045341 GRCh37: 15:40763444-40763444
GRCh38: 15:40471245-40471245
17 CHST14 NM_130468.4(CHST14):c.612G>T (p.Gln204His) SNV Uncertain significance 1046240 GRCh37: 15:40764024-40764024
GRCh38: 15:40471825-40471825
18 CHST14 NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) Deletion Uncertain significance 2336 rs397518432 GRCh37: 15:40763556-40763556
GRCh38: 15:40471357-40471357
19 CHST14 NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) SNV Uncertain significance 938765 GRCh37: 15:40764097-40764097
GRCh38: 15:40471898-40471898
20 CHST14 NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) Indel Uncertain significance 943538 GRCh37: 15:40763919-40763920
GRCh38: 15:40471720-40471721
21 CHST14 NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) SNV Uncertain significance 962730 GRCh37: 15:40764080-40764080
GRCh38: 15:40471881-40471881
22 CHST14 NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) SNV Uncertain significance 967018 GRCh37: 15:40763608-40763608
GRCh38: 15:40471409-40471409
23 CHST14 NM_130468.4(CHST14):c.1010A>G (p.His337Arg) SNV Uncertain significance 969888 GRCh37: 15:40764422-40764422
GRCh38: 15:40472223-40472223
24 CHST14 NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys) SNV Uncertain significance 982733 GRCh37: 15:40763870-40763870
GRCh38: 15:40471671-40471671
25 CHST14 NM_130468.3(CHST14):c.941G>A (p.Arg314Gln) SNV Uncertain significance 287372 rs556002453 GRCh37: 15:40764353-40764353
GRCh38: 15:40472154-40472154
26 DSE NM_013352.4(DSE):c.121G>A (p.Asp41Asn) SNV Uncertain significance 1000265 GRCh37: 6:116720534-116720534
GRCh38: 6:116399371-116399371
27 DSE NM_013352.4(DSE):c.110A>G (p.Asn37Ser) SNV Uncertain significance 1002117 GRCh37: 6:116720523-116720523
GRCh38: 6:116399360-116399360
28 CHST14 NM_130468.3(CHST14):c.398A>C (p.Gln133Pro) SNV Uncertain significance 501222 rs866817984 GRCh37: 15:40763810-40763810
GRCh38: 15:40471611-40471611
29 CHST14 NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) SNV Uncertain significance 1004396 GRCh37: 15:40763423-40763423
GRCh38: 15:40471224-40471224
30 CHST14 NM_130468.4(CHST14):c.138G>C (p.Met46Ile) SNV Uncertain significance 970651 GRCh37: 15:40763550-40763550
GRCh38: 15:40471351-40471351
31 CHST14 NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) SNV Uncertain significance 1014256 GRCh37: 15:40764099-40764099
GRCh38: 15:40471900-40471900
32 CHST14 NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) SNV Uncertain significance 1017964 GRCh37: 15:40763585-40763585
GRCh38: 15:40471386-40471386
33 DSE NM_013352.4(DSE):c.325T>G (p.Leu109Val) SNV Uncertain significance 1019817 GRCh37: 6:116720738-116720738
GRCh38: 6:116399575-116399575
34 CHST14 NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) SNV Uncertain significance 1026315 GRCh37: 15:40764004-40764004
GRCh38: 15:40471805-40471805
35 DSE NM_013352.4(DSE):c.2005A>G (p.Ile669Val) SNV Uncertain significance 541546 rs145999978 GRCh37: 6:116757636-116757636
GRCh38: 6:116436473-116436473
36 CHST14 NM_130468.3(CHST14):c.250C>A (p.Arg84Ser) SNV Uncertain significance 663357 rs561964206 GRCh37: 15:40763662-40763662
GRCh38: 15:40471463-40471463
37 CHST14 NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp) SNV Uncertain significance 440975 rs372422727 GRCh37: 15:40764445-40764445
GRCh38: 15:40472246-40472246
38 CHST14 NM_130468.3(CHST14):c.148A>T (p.Ile50Phe) SNV Uncertain significance 468548 rs1046833753 GRCh37: 15:40763560-40763560
GRCh38: 15:40471361-40471361
39 CHST14 NM_130468.3(CHST14):c.468G>C (p.Lys156Asn) SNV Uncertain significance 468549 rs1555410748 GRCh37: 15:40763880-40763880
GRCh38: 15:40471681-40471681
40 CHST14 NM_130468.3(CHST14):c.275G>T (p.Gly92Val) SNV Uncertain significance 536423 rs754720949 GRCh37: 15:40763687-40763687
GRCh38: 15:40471488-40471488
41 DSE NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) SNV Uncertain significance 592132 rs1562313702 GRCh37: 6:116757199-116757199
GRCh38: 6:116436036-116436036
42 DSE NM_013352.4(DSE):c.355A>C (p.Asn119His) SNV Uncertain significance 642867 rs1583172956 GRCh37: 6:116720768-116720768
GRCh38: 6:116399605-116399605
43 DSE NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) SNV Uncertain significance 653778 rs767730463 GRCh37: 6:116756856-116756856
GRCh38: 6:116435693-116435693
44 CHST14 NM_130468.3(CHST14):c.1081C>G (p.Leu361Val) SNV Uncertain significance 579085 rs1566969372 GRCh37: 15:40764493-40764493
GRCh38: 15:40472294-40472294
45 CHST14 NM_130468.3(CHST14):c.130A>G (p.Met44Val) SNV Uncertain significance 579161 rs1043447552 GRCh37: 15:40763542-40763542
GRCh38: 15:40471343-40471343
46 CHST14 NM_130468.3(CHST14):c.869C>T (p.Ala290Val) SNV Uncertain significance 579344 rs763074027 GRCh37: 15:40764281-40764281
GRCh38: 15:40472082-40472082
47 CHST14 NM_130468.3(CHST14):c.158C>A (p.Ser53Tyr) SNV Uncertain significance 641726 rs896003662 GRCh37: 15:40763570-40763570
GRCh38: 15:40471371-40471371
48 CHST14 NM_130468.3(CHST14):c.548A>G (p.Asp183Gly) SNV Uncertain significance 650778 rs1595869476 GRCh37: 15:40763960-40763960
GRCh38: 15:40471761-40471761
49 CHST14 NM_130468.3(CHST14):c.77C>T (p.Pro26Leu) SNV Uncertain significance 656214 rs1321331803 GRCh37: 15:40763489-40763489
GRCh38: 15:40471290-40471290
50 CHST14 NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) SNV Uncertain significance 828118 rs1007569346 GRCh37: 15:40763848-40763848
GRCh38: 15:40471649-40471649

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

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 DSE CHST14

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 DSE CHST14

Sources for Musculocontractural Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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