EDSMC1
MCID: EHL080
MIFTS: 35

Ehlers-Danlos Syndrome, Musculocontractural Type, 1 (EDSMC1)

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

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

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Musculocontractural Type, 1:

Name: Ehlers-Danlos Syndrome, Musculocontractural Type, 1 57
Ehlers-Danlos Syndrome, Musculocontractural Type 1 57 75 73
Adducted Thumb-Clubfoot Syndrome 57 75
Dundar Syndrome 57 75
Edsmc1 57 75
Edsmc 57 75
Atcs 57 75
Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome 57
Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis 57
Arthrogryposis Distal with Peculiar Facies and Hydronephrosis 75
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 57
Ehlers-Danlos Syndrome, Type Vib, Formerly 57
Adducted Thumbs-Arthrogryposis Dundar Type 75
Ehlers-Danlos Syndrome Type Vib Formerly 75
Adducted Thumb-Clubfoot Syndrome; Atcs 57
Eds6b, Formerly 57
Eds6b Formerly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, musculocontractural type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

OMIM : 57 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998). The major characteristics of the musculocontractural form of EDS include 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 (summary by Malfait et al., 2010). Janecke et al. (2015) reviewed the clinical findings in 34 reported EDSMC patients, 31 with CHST14 mutations and 3 with DSE (605942) mutations (see 615539), and stated that the disorder can be recognized based on the presence of distal arthrogryposis, including adducted thumbs or clenched fists and talipes equinovarus, as well as hands with atypically shallow palmar creases and tapering fingers, and neonatal muscular hypotonia. Characteristic craniofacial features include brachycephaly, large fontanel, hypertelorism, downslanting palpebral fissures, microcorneae, strabismus, prominent nasolabial folds, short philtrum, thin upper lip, small mouth, high palate, microretrognathia, and prominent and often low-set and posteriorly rotated ears. In addition, EDSMC patients show muscular hypoplasia and weakness, which has been confirmed by ultrasound and electromyography, and intellectual development appears to be normal. (601776)

MalaCards based summary : Ehlers-Danlos Syndrome, Musculocontractural Type, 1, also known as ehlers-danlos syndrome, musculocontractural type 1, is related to brittle cornea syndrome 1 and anaplastic thyroid cancer, and has symptoms including constipation An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 1 is CHST14 (Carbohydrate Sulfotransferase 14). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and pectus excavatum

UniProtKB/Swiss-Prot : 75 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

Diseases in the Musculocontractural Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Musculocontractural Type, 1 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 15)
# Related Disease Score Top Affiliating Genes
1 brittle cornea syndrome 1 11.9
2 anaplastic thyroid cancer 11.8
3 adducted thumbs dundar type 11.5
4 musculocontractural ehlers-danlos syndrome 11.5
5 ehlers-danlos syndrome, musculocontractural type, 2 11.1
6 clubfoot 10.4
7 ehlers-danlos syndrome 10.4
8 marden-walker syndrome 10.3
9 thyroid cancer 10.3
10 small cell cancer of the lung 10.0
11 lung cancer 10.0
12 thalassemia 10.0
13 cardiac tamponade 10.0
14 pancreatitis 10.0
15 tethered cord syndrome 10.0

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 & Phenotypes for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
myopia
glaucoma
retinal detachment
more
Abdomen Gastrointestinal:
constipation
diverticular perforation (rare)
duodenal obstruction due to malrotation

Head And Neck Ears:
hearing impairment
prominent ears
low-set and rotated ears

Head And Neck Head:
brachycephaly
large fontanel with delayed closure

Head And Neck Nose:
long philtrum
short with hypoplastic columella

Skeletal Hands:
arachnodactyly
arthrogryposis, distal
adducted thumbs, bilateral, in infancy
slender and/or cylindrical fingers
hypermobility of small joints

Muscle Soft Tissue:
hypotonia
hematomas, recurrent large subcutaneous
low muscle mass

Skeletal:
joint laxity, generalized
mild osteopenia in childhood (in some patients)
congenital contractures, multiple
joint dislocations, recurrent
tendon abnormalities

Chest Diaphragm:
hiatal hernia

Cardiovascular Vascular:
hematomas, recurrent large subcutaneous

Genitourinary Internal Genitalia Male:
cryptorchidism (in most patients)

Genitourinary Bladder:
cystitis, recurrent (in some patients)
enlarged bladder (in some patients)

Skeletal Feet:
hypermobility of small joints
talipes equinovarus in infancy
talipes valgus and planus, progressive

Skin Nails Hair Skin Electron Microscopy:
collagen fibrils dispersed in reticular dermis
smooth, round collagen fibrils

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
flat, thin pectus

Skeletal Spine:
scoliosis

Abdomen External Features:
umbilical hernia
diastasis recti

Head And Neck Mouth:
cleft palate
high-arched palate
thin upper lip
small mouth in infancy

Cardiovascular Heart:
atrial septal defect
valve anomalies

Skin Nails Hair Skin:
hyperextensible skin
delayed wound healing
ecchymoses
fragile skin with atrophic scarring
hyperalgesia to pressure
more
Neurologic Central Nervous System:
mental retardation (in some patients)
gross motor developmental delay
mildly enlarged ventricles

Head And Neck Face:
broad, flat forehead
microretrognathia in infancy
protruding jaw from adolescence
facial asymmetry from adolescence

Growth Weight:
severely wasted build

Respiratory Lung:
hemopneumothorax

Genitourinary Kidneys:
hydronephrosis, bilateral

Skeletal Limbs:
hypermobility of shoulders

Skin Nails Hair Skin Histology:
fine collagen fibers predominant in reticular to papillary dermis
thin collagen bundles


Clinical features from OMIM:

601776

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

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 pectus excavatum 32 HP:0000767
3 joint dislocation 32 HP:0001373
4 high palate 32 HP:0000218
5 intellectual disability 32 occasional (7.5%) HP:0001249
6 constipation 32 HP:0002019
7 scoliosis 32 HP:0002650
8 hearing impairment 32 HP:0000365
9 global developmental delay 32 HP:0001263
10 umbilical hernia 32 HP:0001537
11 abnormal facial shape 32 HP:0001999
12 brachycephaly 32 HP:0000248
13 cleft palate 32 HP:0000175
14 long philtrum 32 HP:0000343
15 strabismus 32 HP:0000486
16 cryptorchidism 32 hallmark (90%) HP:0000028
17 myopia 32 HP:0000545
18 atrial septal defect 32 HP:0001631
19 nephrotic syndrome 32 HP:0000100
20 protruding ear 32 HP:0000411
21 ventriculomegaly 32 HP:0002119
22 arthrogryposis multiplex congenita 32 HP:0002804
23 motor delay 32 HP:0001270
24 joint laxity 32 HP:0001388
25 talipes equinovarus 32 HP:0001762
26 telecanthus 32 HP:0000506
27 broad forehead 32 HP:0000337
28 abnormality of the mouth 32 HP:0000153
29 glaucoma 32 HP:0000501
30 retinal detachment 32 HP:0000541
31 arachnodactyly 32 HP:0001166
32 downslanted palpebral fissures 32 HP:0000494
33 narrow mouth 32 HP:0000160
34 intestinal malrotation 32 HP:0002566
35 thin upper lip vermilion 32 HP:0000219
36 bruising susceptibility 32 HP:0000978
37 adducted thumb 32 HP:0001181
38 large fontanelles 32 HP:0000239
39 microretrognathia 32 HP:0000308
40 facial asymmetry 32 HP:0000324
41 microcornea 32 HP:0000482
42 blue sclerae 32 HP:0000592
43 hyperextensible skin 32 HP:0000974
44 hydronephrosis 32 HP:0000126
45 hiatus hernia 32 HP:0002036
46 diastasis recti 32 HP:0001540
47 generalized hypotonia 32 HP:0001290
48 recurrent skin infections 32 HP:0001581
49 delayed cranial suture closure 32 HP:0000270
50 pneumothorax 32 HP:0002107

UMLS symptoms related to Ehlers-Danlos Syndrome, Musculocontractural Type, 1:


constipation

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

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

Genetic Tests for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Anatomical Context for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

41
Skin, Bone, Eye, Lung, Thyroid

Publications for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Articles related to Ehlers-Danlos Syndrome, Musculocontractural Type, 1:

# Title Authors Year
1
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. ( 22987394 )
2012
2
A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome". Which name is appropriate, "Adducted Thumb-Clubfoot Syndrome" or "Ehlers-Danlos syndrome"? ( 21964831 )
2011
3
Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". ( 21309034 )
2011
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. ( 20842734 )
2010
5
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. ( 20004762 )
2009

Variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

75
# Symbol AA change Variation ID SNP ID
1 CHST14 p.Arg135Gly VAR_063754 rs267606727
2 CHST14 p.Leu137Gln VAR_063755 rs267606728
3 CHST14 p.Arg213Pro VAR_063756 rs121908257
4 CHST14 p.Tyr293Cys VAR_063757 rs121908258
5 CHST14 p.Pro281Leu VAR_064555 rs267606729
6 CHST14 p.Cys289Ser VAR_064556 rs267606731

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

6 (show all 50)
# 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 GRCh37 Chromosome 15, 40764047: 40764047
22 CHST14 NM_130468.3(CHST14): c.635T> C (p.Val212Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144629123 GRCh38 Chromosome 15, 40471848: 40471848
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 GRCh38 Chromosome 15, 40471361: 40471361
34 CHST14 NM_130468.3(CHST14): c.148A> T (p.Ile50Phe) single nucleotide variant Uncertain significance rs1046833753 GRCh37 Chromosome 15, 40763560: 40763560
35 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40763880: 40763880
36 CHST14 NM_130468.3(CHST14): c.468G> C (p.Lys156Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40471681: 40471681
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 GRCh37 Chromosome 15, 40763687: 40763687
42 CHST14 NM_130468.3(CHST14): c.275G> T (p.Gly92Val) single nucleotide variant Uncertain significance rs754720949 GRCh38 Chromosome 15, 40471488: 40471488
43 CHST14 NM_130468.3(CHST14): c.1081C> G (p.Leu361Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40764493: 40764493
44 CHST14 NM_130468.3(CHST14): c.1081C> G (p.Leu361Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40472294: 40472294
45 CHST14 NM_130468.3(CHST14): c.130A> G (p.Met44Val) single nucleotide variant Uncertain significance rs1043447552 GRCh37 Chromosome 15, 40763542: 40763542
46 CHST14 NM_130468.3(CHST14): c.130A> G (p.Met44Val) single nucleotide variant Uncertain significance rs1043447552 GRCh38 Chromosome 15, 40471343: 40471343
47 CHST14 NM_130468.3(CHST14): c.160dup (p.Ser54Lysfs) duplication Likely pathogenic GRCh37 Chromosome 15, 40763572: 40763572
48 CHST14 NM_130468.3(CHST14): c.160dup (p.Ser54Lysfs) duplication Likely pathogenic GRCh38 Chromosome 15, 40471373: 40471373
49 CHST14 NM_130468.3(CHST14): c.869C> T (p.Ala290Val) single nucleotide variant Uncertain significance rs763074027 GRCh37 Chromosome 15, 40764281: 40764281
50 CHST14 NM_130468.3(CHST14): c.869C> T (p.Ala290Val) single nucleotide variant Uncertain significance rs763074027 GRCh38 Chromosome 15, 40472082: 40472082

Expression for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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Pathways for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

GO Terms for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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