MCID: EHL047
MIFTS: 41

Ehlers-Danlos Syndrome, Musculocontractural Type 1 malady

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

Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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OMIM:45 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features... (601776) more...

MalaCards based summary: Ehlers-Danlos Syndrome, Musculocontractural Type 1, also known as ehlers-danlos syndrome, musculocontractural type, is related to ehlers-danlos syndrome, musculocontractural type 2 and clubfoot, and has symptoms including cryptorchidism, abnormality of the fontanelles or cranial sutures and low-set, posteriorly rotated ears. An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type 1 is CHST14 (carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14), and among its related pathways are Metabolism and Disease. The compounds chondroitin and iduronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and kidney, and related mouse phenotypes are reproductive system and limbs/digits/tail.

NIH Rare Diseases:41 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.  last updated: 6/3/2011

Aliases & Classifications for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Sources:
45OMIM, 41NIH Rare Diseases, 60UMLS, 47Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
See all sources

Ehlers-Danlos Syndrome, Musculocontractural Type 1, Aliases & Descriptions:

Name: Ehlers-Danlos Syndrome, Musculocontractural Type 1 45
Ehlers-Danlos Syndrome, Musculocontractural Type 41 20 47 22
Adducted Thumbs - Arthrogryposis, Dundar Type 41 47
Ehlers-Danlos Syndrome, Arthrogryposic Type 41 47
D4st1-Deficient Ehlers-Danlos Syndrome 41 47
Chst14-Related Ehlers-Danlos Syndrome 41 47
Adducted Thumb and Clubfoot Syndrome 41 60
Ehlers-Danlos Syndrome, Kosho Type 41 47
Adducted Thumb - Clubfoot Syndrome 41 47
 
Eds, Musculocontractural Type 41 47
Eds, Arthrogryposic Type 41 47
D4st1-Deficient Eds 41 47
Chst14-Related Eds 41 47
Eds, Kosho Type 41 47
Atcs 41 47
Autosomal Recessive Adducted Thumb-Club Foot Syndrome 41
Adducted Thumb Clubfoot Syndrome 41
Ehlers-Danlos Syndrome 6b 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
ehlers-danlos syndrome, musculocontractural type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 601776
Orphanet47 2953
ICD10 via Orphanet26 Q79.6

Related Diseases for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Diseases in the Ehlers-Danlos Syndrome, Musculocontractural Type 1 family:

Ehlers-Danlos Syndrome, Musculocontractural Type 2

Diseases related to Ehlers-Danlos Syndrome, Musculocontractural Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, musculocontractural type 210.8
2clubfoot10.6
3ehlers-danlos syndrome10.5
4marden-walker syndrome10.4
5phenylketonuria10.0
6lung cancer10.0
7hypertriglyceridemia10.0
8hiv-110.0
9lipoprotein lipase deficiency10.0
10thalassemia10.0
11cardiac tamponade10.0
12pancreatitis10.0
13thyroiditis10.0
14endotheliitis10.0

Graphical network of diseases related to Ehlers-Danlos Syndrome, Musculocontractural Type 1:



Diseases related to ehlers-danlos syndrome, musculocontractural type 1

Symptoms for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Symptoms by clinical synopsis from OMIM:

601776

Clinical features from OMIM:

601776

Symptoms:

 47 (show all 12)
  • large fontanelle/delayed fontanelle closure
  • downturned mouth
  • low set ears/posteriorly rotated ears
  • long hand/arachnodactyly
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • talipes-varus/metatarsal varus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • ectopic/horseshoe/fused kidneys

HPO human phenotypes related to Ehlers-Danlos Syndrome, Musculocontractural Type 1:

(show all 67)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 arachnodactyly hallmark (90%) HP:0001166
5 adducted thumb hallmark (90%) HP:0001181
6 talipes hallmark (90%) HP:0001883
7 downturned corners of mouth hallmark (90%) HP:0002714
8 cognitive impairment hallmark (90%) HP:0100543
9 ventricular septal defect occasional (7.5%) HP:0001629
10 defect in the atrial septum occasional (7.5%) HP:0001631
11 abnormality of the aorta occasional (7.5%) HP:0001679
12 abnormal localization of kidney occasional (7.5%) HP:0100542
13 intellectual disability rare (5%) HP:0001249
14 autosomal recessive inheritance HP:0000007
15 nephrotic syndrome HP:0000100
16 hydronephrosis HP:0000126
17 narrow mouth HP:0000160
18 cleft palate HP:0000175
19 high palate HP:0000218
20 thin upper lip vermilion HP:0000219
21 large fontanelles HP:0000239
22 brachycephaly HP:0000248
23 delayed cranial suture closure HP:0000270
24 microretrognathia HP:0000308
25 hypertelorism HP:0000316
26 facial asymmetry HP:0000324
27 broad forehead HP:0000337
28 long philtrum HP:0000343
29 posteriorly rotated ears HP:0000358
30 hearing impairment HP:0000365
31 protruding ear HP:0000411
32 microcornea HP:0000482
33 strabismus HP:0000486
34 downslanted palpebral fissures HP:0000494
35 glaucoma HP:0000501
36 telecanthus HP:0000506
37 retinal detachment HP:0000541
38 myopia HP:0000545
39 blue sclerae HP:0000592
40 abnormality of the anterior chamber HP:0000593
41 pectus excavatum HP:0000767
42 hyperextensible skin HP:0000974
43 bruising susceptibility HP:0000978
44 fragile skin HP:0001030
45 arachnodactyly HP:0001166
46 adducted thumb HP:0001181
47 global developmental delay HP:0001263
48 motor delay HP:0001270
49 joint dislocation HP:0001373
50 joint laxity HP:0001388
51 umbilical hernia HP:0001537
52 diastasis recti HP:0001540
53 recurrent skin infections HP:0001581
54 defect in the atrial septum HP:0001631
55 talipes equinovarus HP:0001762
56 constipation HP:0002019
57 hiatus hernia HP:0002036
58 pneumothorax HP:0002107
59 ventriculomegaly HP:0002119
60 abnormality of the duodenum HP:0002246
61 intestinal malrotation HP:0002566
62 scoliosis HP:0002650
63 generalized joint laxity HP:0002761
64 arthrogryposis multiplex congenita HP:0002804
65 flat forehead HP:0004425
66 distal arthrogryposis HP:0005684
67 scarring HP:0100699

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome, Musculocontractural Type 1

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Musculocontractural Type 1

Genetic Tests for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Genetic tests related to Ehlers-Danlos Syndrome, Musculocontractural Type 1:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Musculocontractural Type20 22 CHST14

Anatomical Context for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Musculocontractural Type 1:

31
Skin, Bone, Kidney

Animal Models for Ehlers-Danlos Syndrome, Musculocontractural Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Musculocontractural Type 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1CHST14, DSE
2MP:00053719.0CHST14, DSE
3MP:00107718.8CHST14, DSE

Publications for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Variations for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Musculocontractural Type 1:

62
id Symbol AA change Variation ID SNP ID
1CHST14p.Arg135GlyVAR_063754
2CHST14p.Leu137GlnVAR_063755
3CHST14p.Arg213ProVAR_063756rs121908257
4CHST14p.Tyr293CysVAR_063757rs121908258
5CHST14p.Pro281LeuVAR_064555
6CHST14p.Cys289SerVAR_064556

Clinvar genetic disease variations for Ehlers-Danlos Syndrome, Musculocontractural Type 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CHST14CHST14, 20-BP DUP, NT981duplicationPathogenic
2CHST14NM_130468.3(CHST14): c.145delG (p.Val49Terfs)deletionPathogenicrs397518432GRCh37Chr 15, 40763557: 40763557
3CHST14NM_130468.3(CHST14): c.638G> C (p.Arg213Pro)single nucleotide variantPathogenicrs121908257GRCh37Chr 15, 40764050: 40764050
4CHST14NM_130468.3(CHST14): c.403C> G (p.Arg135Gly)single nucleotide variantPathogenicrs267606727GRCh37Chr 15, 40763815: 40763815
5CHST14NM_130468.3(CHST14): c.878A> G (p.Tyr293Cys)single nucleotide variantPathogenicrs121908258GRCh37Chr 15, 40764290: 40764290
6CHST14NM_130468.3(CHST14): c.842C> T (p.Pro281Leu)single nucleotide variantPathogenicrs267606729GRCh37Chr 15, 40764254: 40764254
7CHST14NM_130468.3(CHST14): c.205A> T (p.Lys69Ter)single nucleotide variantPathogenicrs267606730GRCh37Chr 15, 40763617: 40763617
8CHST14NM_130468.3(CHST14): c.866G> C (p.Cys289Ser)single nucleotide variantPathogenicrs267606731GRCh37Chr 15, 40764278: 40764278
9CHST14NM_130468.3(CHST14): c.821G> C (p.Arg274Pro)single nucleotide variantPathogenicrs397514706GRCh37Chr 15, 40764233: 40764233
10DSENM_001080976.1(DSE): c.803C> T (p.Ser268Leu)single nucleotide variantPathogenicrs398122361GRCh37Chr 6, 116752249: 116752249

Expression for genes affiliated with Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Musculocontractural Type 1.

Pathways for genes affiliated with Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Compounds for genes affiliated with Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Ehlers-Danlos Syndrome, Musculocontractural Type 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1chondroitin43 2410.1CHST14, DSE
2iduronic acid43 2410.0CHST14, DSE
3dermatan43 249.8CHST14, DSE

GO Terms for genes affiliated with Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Cellular components related to Ehlers-Danlos Syndrome, Musculocontractural Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:00001399.1CHST14, DSE

Biological processes related to Ehlers-Danlos Syndrome, Musculocontractural Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dermatan sulfate biosynthetic processGO:00302089.2CHST14, DSE
2chondroitin sulfate metabolic processGO:00302049.1CHST14, DSE
3small molecule metabolic processGO:00442819.1CHST14, DSE
4glycosaminoglycan metabolic processGO:00302039.0DSE, CHST14
5carbohydrate metabolic processGO:00059758.8CHST14, DSE

Products for genes affiliated with Ehlers-Danlos Syndrome, Musculocontractural Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet