MCID: EHL047
MIFTS: 29

Ehlers-Danlos Syndrome, Musculocontractural Type 1 malady

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

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

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

Name: Ehlers-Danlos Syndrome, Musculocontractural Type 1 49 67
Arthrogryposis Distal with Peculiar Facies and Hydronephrosis 67
Adducted Thumbs-Arthrogryposis Dundar Type 67
Ehlers-Danlos Syndrome Type Vib Formerly 67
Adducted Thumb and Clubfoot Syndrome 65
Adducted Thumb-Clubfoot Syndrome 67
 
Ehlers-Danlos Syndrome 6b 65
Dundar Syndrome 67
Eds6b Formerly 67
Edsmc1 67
Edsmc 67
Atcs 67


Classifications:



External Ids:

OMIM49 601776
MedGen34 C1866294
MeSH36 D004535

Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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OMIM:49 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 arthrogryposis distal with peculiar facies and hydronephrosis, is related to clubfoot and ehlers-danlos syndrome, musculocontractural type, and has symptoms including cryptorchidism, intellectual disability and autosomal recessive inheritance. An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type 1 is CHST14 (Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot:67 Ehlers-Danlos syndrome, musculocontractural type 1: A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.

Related Diseases for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Graphical network of the top 20 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

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

(show all 57)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 intellectual disability rare (5%) HP:0001249
3 autosomal recessive inheritance HP:0000007
4 nephrotic syndrome HP:0000100
5 hydronephrosis HP:0000126
6 narrow mouth HP:0000160
7 cleft palate HP:0000175
8 high palate HP:0000218
9 thin upper lip vermilion HP:0000219
10 large fontanelles HP:0000239
11 brachycephaly HP:0000248
12 delayed cranial suture closure HP:0000270
13 microretrognathia HP:0000308
14 hypertelorism HP:0000316
15 facial asymmetry HP:0000324
16 broad forehead HP:0000337
17 long philtrum HP:0000343
18 posteriorly rotated ears HP:0000358
19 hearing impairment HP:0000365
20 protruding ear HP:0000411
21 microcornea HP:0000482
22 strabismus HP:0000486
23 downslanted palpebral fissures HP:0000494
24 glaucoma HP:0000501
25 telecanthus HP:0000506
26 retinal detachment HP:0000541
27 myopia HP:0000545
28 blue sclerae HP:0000592
29 abnormality of the anterior chamber HP:0000593
30 pectus excavatum HP:0000767
31 hyperextensible skin HP:0000974
32 bruising susceptibility HP:0000978
33 fragile skin HP:0001030
34 arachnodactyly HP:0001166
35 adducted thumb HP:0001181
36 muscular hypotonia HP:0001252
37 global developmental delay HP:0001263
38 motor delay HP:0001270
39 joint dislocation HP:0001373
40 joint laxity HP:0001388
41 umbilical hernia HP:0001537
42 diastasis recti HP:0001540
43 recurrent skin infections HP:0001581
44 atria septal defect HP:0001631
45 talipes equinovarus HP:0001762
46 constipation HP:0002019
47 hiatus hernia HP:0002036
48 pneumothorax HP:0002107
49 ventriculomegaly HP:0002119
50 abnormality of the duodenum HP:0002246
51 intestinal malrotation HP:0002566
52 scoliosis HP:0002650
53 generalized joint laxity HP:0002761
54 arthrogryposis multiplex congenita HP:0002804
55 flat forehead HP:0004425
56 distal arthrogryposis HP:0005684
57 scarring HP:0100699

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

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Interventional clinical trials:

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

Genetic Tests for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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Anatomical Context for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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

33
Skin, Bone

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

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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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHST14CHST14, 20-BP DUP, NT981duplicationPathogenic
2CHST14NM_130468.3(CHST14): c.567delG (p.Phe190Serfs)deletionPathogenicrs794726956GRCh37Chr 15, 40763979: 40763979
3CHST14NM_130468.3(CHST14): c.145delG (p.Val49Terfs)deletionPathogenicrs397518432GRCh37Chr 15, 40763557: 40763557
4CHST14NM_130468.3(CHST14): c.638G> C (p.Arg213Pro)single nucleotide variantPathogenicrs121908257GRCh37Chr 15, 40764050: 40764050
5CHST14NM_130468.3(CHST14): c.403C> G (p.Arg135Gly)single nucleotide variantPathogenicrs267606727GRCh37Chr 15, 40763815: 40763815
6CHST14NM_130468.3(CHST14): c.878A> G (p.Tyr293Cys)single nucleotide variantPathogenicrs121908258GRCh37Chr 15, 40764290: 40764290
7CHST14NM_130468.3(CHST14): c.842C> T (p.Pro281Leu)single nucleotide variantPathogenicrs267606729GRCh37Chr 15, 40764254: 40764254
8CHST14NM_130468.3(CHST14): c.205A> T (p.Lys69Ter)single nucleotide variantPathogenicrs267606730GRCh37Chr 15, 40763617: 40763617
9CHST14NM_130468.3(CHST14): c.866G> C (p.Cys289Ser)single nucleotide variantPathogenicrs267606731GRCh37Chr 15, 40764278: 40764278
10CHST14NM_130468.3(CHST14): c.821G> C (p.Arg274Pro)single nucleotide variantPathogenicrs397514706GRCh37Chr 15, 40764233: 40764233

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

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Sources for Ehlers-Danlos Syndrome, Musculocontractural Type 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet