EDSMC1
MCID: EHL080
MIFTS: 39

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 74 72
Adducted Thumb-Clubfoot Syndrome 57 74
Dundar Syndrome 57 74
Edsmc1 57 74
Edsmc 57 74
Atcs 57 74
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 74
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 57
Ehlers-Danlos Syndrome, Type Vib, Formerly 57
Adducted Thumbs-Arthrogryposis Dundar Type 74
Ehlers-Danlos Syndrome Type Vib Formerly 74
Adducted Thumb-Clubfoot Syndrome; Atcs 57
Eds6b, Formerly 57
Eds6b Formerly 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

MeSH 44 D004535
MedGen 42 C1866294
UMLS 72 C1866294

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 thyroid gland anaplastic carcinoma, and has symptoms including constipation An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 1 is CHST14 (Carbohydrate Sulfotransferase 14). The drugs Carmustine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and lung, and related phenotypes are cryptorchidism and intellectual disability

UniProtKB/Swiss-Prot : 74 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 46)
# Related Disease Score Top Affiliating Genes
1 brittle cornea syndrome 1 12.0
2 thyroid gland anaplastic carcinoma 11.9
3 musculocontractural ehlers-danlos syndrome 11.7
4 ehlers-danlos syndrome, musculocontractural type, 2 11.3
5 ehlers-danlos syndrome 11.2
6 thyroid carcinoma 10.6
7 clubfoot 10.5
8 hypermobile ehlers-danlos syndrome 10.5
9 plod1-related kyphoscoliotic ehlers-danlos syndrome 10.5
10 hypotonia 10.5
11 ataxia-telangiectasia 10.3
12 ataxia and polyneuropathy, adult-onset 10.3
13 telangiectasis 10.3
14 marden-walker syndrome 10.3
15 autosomal recessive disease 10.3
16 blepharophimosis 10.3
17 myopia 10.3
18 entropion 10.3
19 heart septal defect 10.3
20 atrial heart septal defect 10.3
21 microcephaly 10.3
22 congenital contractures 10.3
23 mucositis 10.2
24 acute leukemia 10.2
25 hemoglobinopathy 10.2
26 periodontitis 10.2
27 pulmonary alveolar microlithiasis 10.1
28 factor viii deficiency 10.0
29 hypertriglyceridemia, familial 10.0
30 pancreatitis, hereditary 10.0
31 hyperlipoproteinemia, type i 10.0
32 pancreatic cancer 10.0
33 periodontitis, chronic 10.0
34 hemophilia a 10.0
35 human immunodeficiency virus type 1 10.0
36 lipomyelomeningocele 10.0
37 thalassemia 10.0
38 heart disease 10.0
39 cardiac tamponade 10.0
40 neutropenia 10.0
41 disease of mental health 10.0
42 congestive heart failure 10.0
43 hemophilia 10.0
44 acute respiratory distress syndrome 10.0
45 tethered cord syndrome 10.0
46 brain injury 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

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

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 hallmark (90%) HP:0000028
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 hypertelorism 32 HP:0000316
4 pectus excavatum 32 HP:0000767
5 joint dislocation 32 HP:0001373
6 high palate 32 HP:0000218
7 constipation 32 HP:0002019
8 scoliosis 32 HP:0002650
9 hearing impairment 32 HP:0000365
10 global developmental delay 32 HP:0001263
11 umbilical hernia 32 HP:0001537
12 abnormal facial shape 32 HP:0001999
13 brachycephaly 32 HP:0000248
14 cleft palate 32 HP:0000175
15 long philtrum 32 HP:0000343
16 protruding ear 32 HP:0000411
17 generalized hypotonia 32 HP:0001290
18 strabismus 32 HP:0000486
19 narrow mouth 32 HP:0000160
20 myopia 32 HP:0000545
21 atrial septal defect 32 HP:0001631
22 nephrotic syndrome 32 HP:0000100
23 ventriculomegaly 32 HP:0002119
24 arthrogryposis multiplex congenita 32 HP:0002804
25 motor delay 32 HP:0001270
26 joint laxity 32 HP:0001388
27 talipes equinovarus 32 HP:0001762
28 telecanthus 32 HP:0000506
29 broad forehead 32 HP:0000337
30 abnormality of the mouth 32 HP:0000153
31 glaucoma 32 HP:0000501
32 retinal detachment 32 HP:0000541
33 facial asymmetry 32 HP:0000324
34 hydronephrosis 32 HP:0000126
35 arachnodactyly 32 HP:0001166
36 downslanted palpebral fissures 32 HP:0000494
37 intestinal malrotation 32 HP:0002566
38 thin upper lip vermilion 32 HP:0000219
39 bruising susceptibility 32 HP:0000978
40 adducted thumb 32 HP:0001181
41 large fontanelles 32 HP:0000239
42 microretrognathia 32 HP:0000308
43 microcornea 32 HP:0000482
44 blue sclerae 32 HP:0000592
45 hyperextensible skin 32 HP:0000974
46 delayed cranial suture closure 32 HP:0000270
47 hiatus hernia 32 HP:0002036
48 diastasis recti 32 HP:0001540
49 recurrent skin infections 32 HP:0001581
50 posteriorly rotated ears 32 HP:0000358

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
thin upper lip
high-arched palate
small mouth in infancy

Cardiovascular Heart:
atrial septal defect
valve anomalies

Skin Nails Hair Skin:
hyperextensible skin
ecchymoses
delayed wound healing
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

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


constipation

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

Drugs for Ehlers-Danlos Syndrome, Musculocontractural Type, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carmustine Approved, Investigational Phase 1, Phase 2 154-93-8 2578
2
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
3
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
6
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
7
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
8 Visilizumab Investigational Phase 2 219716-33-3
9 Heptavalent Pneumococcal Conjugate Vaccine Phase 1, Phase 2
10 Vaccines Phase 1, Phase 2
11 Alkylating Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Immunologic Factors Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Antirheumatic Agents Phase 2
16 Muromonab-CD3 Phase 2
17 Estrogens Phase 2
18 Antineoplastic Agents, Phytogenic Phase 2
19
Liposomal doxorubicin Phase 2 31703
20 Hormones Phase 2
21 Albumin-Bound Paclitaxel Phase 2
22 Tubulin Modulators Phase 2
23 Anti-Bacterial Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Topoisomerase Inhibitors Phase 2
26 Antimitotic Agents Phase 2
27
Sargramostim Approved, Investigational Phase 1 83869-56-1, 123774-72-1
28
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4
29
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
30 Anti-Infective Agents Phase 1
31 Anti-HIV Agents Phase 1
32 Antiviral Agents Phase 1
33 Anti-Retroviral Agents Phase 1
34 Antibodies Phase 1
35 Mitogens Phase 1
36 Antibodies, Bispecific Phase 1
37 Antineoplastic Agents, Immunological Phase 1
38 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High-Dose Therapy and Autologous Blood Stem Cell Transplantation (ASCT) Followed by Post-Transplant Immunotherapy With Costimulated Autologous T-Cells in Conjunction With Pneumococcal Conjugate Vaccine Immunization for Patients With Multiple Myeloma Completed NCT00046852 Phase 1, Phase 2 carmustine;cyclophosphamide;melphalan
2 A Phase II Study of Anti-CD3 x Anti-HER2/Neu (Her2Bi) Armed Activated T Cells (ATC) After Neoadjuvant Chemotherapy in Women With HER2/Neu (0-2+), Hormone Receptor (HR) Negative Stage II-III Breast Cancers Active, not recruiting NCT01147016 Phase 2 cyclophosphamide;doxorubicin hydrochloride;paclitaxel
3 A Phase I Study of Anti-CD3 x Cetuximab-Armed Activated T Cells, Low Dose IL-2, and GM-CSF for EGFR-Positive, Advanced Non-Small Cell Lung Cancer Terminated NCT00569296 Phase 1
4 A Phase I Study of Anti-CD3 x Cetuximab-Armed Activated T Cells, Low Dose IL-2, and GM-CSF for EGFR-Positive, Advanced Solid Tumors Terminated NCT01081808 Phase 1

Search 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, T Cells, Lung, Eye, Breast, Testis

Publications for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

(show all 20)
# Title Authors PMID Year
1
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 8 71
26373698 2016
2
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. 8 71
22581468 2012
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. 8 71
20842734 2010
4
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 8 71
20533528 2010
5
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 8 71
20503305 2010
6
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. 8 71
20004762 2009
7
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 8 71
16158441 2005
8
Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. 8 71
12508273 2003
9
A case with adducted thumb and club foot syndrome. 8 71
11666007 2001
10
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. 8 71
11370633 2001
11
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? 8 71
10766984 2000
12
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. 8 71
9084938 1997
13
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. 8 71
1184396 1975
14
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). 8
30195269 2018
15
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. 8
25703627 2015
16
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. 8
21744491 2011
17
Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". 8
21309034 2011
18
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 8
9557891 1998
19
Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid. 8
2498625 1989
20
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome. 38
25059014 2014

Variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

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

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

74
# 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

Expression for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

Pathways for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

Sources for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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