EDSMC1
MCID: EHL080
MIFTS: 41

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 56
Ehlers-Danlos Syndrome, Musculocontractural Type 1 56 73 71
Adducted Thumb-Clubfoot Syndrome 56 73
Dundar Syndrome 56 73
Edsmc1 56 73
Edsmc 56 73
Atcs 56 73
Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome 56
Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis 56
Arthrogryposis Distal with Peculiar Facies and Hydronephrosis 73
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 56
Syndrome, Ehlers-Danlos, Musculocontractural Type 1 39
Ehlers-Danlos Syndrome, Type Vib, Formerly 56
Adducted Thumbs-Arthrogryposis Dundar Type 73
Ehlers-Danlos Syndrome Type Vib Formerly 73
Adducted Thumb-Clubfoot Syndrome; Atcs 56
Eds6b, Formerly 56
Eds6b Formerly 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, musculocontractural type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

OMIM : 56 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 Doxorubicin and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and eye, and related phenotypes are cryptorchidism and intellectual disability

UniProtKB/Swiss-Prot : 73 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 45)
# Related Disease Score Top Affiliating Genes
1 brittle cornea syndrome 1 12.0
2 thyroid gland anaplastic carcinoma 12.0
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 marden-walker syndrome 10.3
12 joint laxity, short stature, and myopia 10.3
13 autosomal recessive disease 10.3
14 blepharophimosis 10.3
15 microcephaly 10.3
16 myopia 10.3
17 entropion 10.3
18 heart septal defect 10.3
19 atrial heart septal defect 10.3
20 congenital contractures 10.3
21 ataxia-telangiectasia 10.2
22 ataxia and polyneuropathy, adult-onset 10.2
23 mucositis 10.2
24 thalassemia 10.2
25 acute leukemia 10.2
26 telangiectasis 10.2
27 hemoglobinopathy 10.2
28 periodontitis 10.2
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 heart disease 10.0
38 cardiac tamponade 10.0
39 neutropenia 10.0
40 blount's disease 10.0
41 disease of mental health 10.0
42 congestive heart failure 10.0
43 hemophilia 10.0
44 brain injury 10.0
45 differentiated thyroid carcinoma 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:

31 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 hallmark (90%) HP:0000028
2 intellectual disability 31 occasional (7.5%) HP:0001249
3 hearing impairment 31 HP:0000365
4 global developmental delay 31 HP:0001263
5 hypertelorism 31 HP:0000316
6 scoliosis 31 HP:0002650
7 umbilical hernia 31 HP:0001537
8 abnormal facial shape 31 HP:0001999
9 brachycephaly 31 HP:0000248
10 strabismus 31 HP:0000486
11 cleft palate 31 HP:0000175
12 narrow mouth 31 HP:0000160
13 joint dislocation 31 HP:0001373
14 high palate 31 HP:0000218
15 myopia 31 HP:0000545
16 pectus excavatum 31 HP:0000767
17 atrial septal defect 31 HP:0001631
18 motor delay 31 HP:0001270
19 talipes equinovarus 31 HP:0001762
20 nephrotic syndrome 31 HP:0000100
21 arachnodactyly 31 HP:0001166
22 downslanted palpebral fissures 31 HP:0000494
23 glaucoma 31 HP:0000501
24 retinal detachment 31 HP:0000541
25 facial asymmetry 31 HP:0000324
26 hydronephrosis 31 HP:0000126
27 thin upper lip vermilion 31 HP:0000219
28 long philtrum 31 HP:0000343
29 protruding ear 31 HP:0000411
30 constipation 31 HP:0002019
31 ventriculomegaly 31 HP:0002119
32 telecanthus 31 HP:0000506
33 intestinal malrotation 31 HP:0002566
34 broad forehead 31 HP:0000337
35 adducted thumb 31 HP:0001181
36 abnormality of the mouth 31 HP:0000153
37 bruising susceptibility 31 HP:0000978
38 large fontanelles 31 HP:0000239
39 microretrognathia 31 HP:0000308
40 microcornea 31 HP:0000482
41 arthrogryposis multiplex congenita 31 HP:0002804
42 blue sclerae 31 HP:0000592
43 hyperextensible skin 31 HP:0000974
44 delayed cranial suture closure 31 HP:0000270
45 diastasis recti 31 HP:0001540
46 hiatus hernia 31 HP:0002036
47 posteriorly rotated ears 31 HP:0000358
48 pneumothorax 31 HP:0002107
49 generalized hypotonia 31 HP:0001290
50 abnormal anterior chamber morphology 31 HP:0000593

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing impairment
prominent ears
low-set and rotated ears

Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
large fontanel with delayed closure

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

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

Abdomen Gastrointestinal:
constipation
diverticular perforation (rare)
duodenal obstruction due to malrotation

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

Head And Neck Eyes:
hypertelorism
strabismus
myopia
glaucoma
retinal detachment
more
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

Head And Neck Nose:
long philtrum
short with hypoplastic columella

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
2
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
3
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
4
Carmustine Approved, Investigational Phase 1, Phase 2 154-93-8 2578
5
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
6
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
7
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
8 Immunologic Factors Phase 2
9 Muromonab-CD3 Phase 2
10
Liposomal doxorubicin Phase 2 31703
11 Albumin-Bound Paclitaxel Phase 2
12 Tubulin Modulators Phase 2
13 Anti-Bacterial Agents Phase 2
14 Estrogens Phase 2
15 Antimitotic Agents Phase 2
16 Hormones Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Vaccines Phase 1, Phase 2
19 Immunosuppressive Agents Phase 1, Phase 2
20 Heptavalent Pneumococcal Conjugate Vaccine Phase 1, Phase 2
21 Alkylating Agents Phase 1, Phase 2
22 Antirheumatic Agents Phase 1, Phase 2
23
Sargramostim Approved, Investigational Phase 1 83869-56-1, 123774-72-1
24
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
25
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4
26 Molgramostim Investigational Phase 1 99283-10-0
27 Anti-HIV Agents Phase 1
28 Anti-Infective Agents Phase 1
29 Antiviral Agents Phase 1
30 Anti-Retroviral Agents Phase 1
31 Immunoglobulins Phase 1
32 Antibodies Phase 1
33 Antibodies, Bispecific Phase 1
34 Mitogens Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT01147016 Phase 2 cyclophosphamide;doxorubicin hydrochloride;paclitaxel
2 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
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:

40
Skin, T Cells, Eye, Lung, 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. 56 6
26373698 2016
2
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. 6 56
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. 56 6
20842734 2010
4
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 56 6
20533528 2010
5
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 6 56
20503305 2010
6
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. 6 56
20004762 2009
7
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 56 6
16158441 2005
8
Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. 6 56
12508273 2003
9
A case with adducted thumb and club foot syndrome. 6 56
11666007 2001
10
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. 6 56
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? 6 56
10766984 2000
12
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. 56 6
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. 6 56
1184396 1975
14
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). 56
30195269 2018
15
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. 56
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. 56
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". 56
21309034 2011
18
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 56
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. 56
2498625 1989
20
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome. 61
25059014 2014

Variations for Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHST14 NM_130468.3(CHST14):c.453dup (p.Cys152fs)duplication Pathogenic 446173 rs1555410747 15:40763864-40763865 15:40471665-40471666
2 CHST14 NM_130468.4(CHST14):c.797dup (p.Tyr266Ter)duplication Pathogenic 816708 15:40764208-40764209 15:40472009-40472010
3 CHST14 NM_130468.3(CHST14):c.842C>T (p.Pro281Leu)SNV Pathogenic 2340 rs267606729 15:40764254-40764254 15:40472055-40472055
4 CHST14 NM_130468.3(CHST14):c.205A>T (p.Lys69Ter)SNV Pathogenic 2341 rs267606730 15:40763617-40763617 15:40471418-40471418
5 CHST14 NM_130468.3(CHST14):c.866G>C (p.Cys289Ser)SNV Pathogenic 2342 rs267606731 15:40764278-40764278 15:40472079-40472079
6 CHST14 NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs)duplication Pathogenic 18421 rs1555410785 15:40764391-40764392 15:40472192-40472193
7 CHST14 NM_130468.3(CHST14):c.821G>C (p.Arg274Pro)SNV Pathogenic 50992 rs397514706 15:40764233-40764233 15:40472034-40472034
8 CHST14 NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer)deletion Pathogenic 2336 rs397518432 15:40763556-40763556 15:40471357-40471357
9 CHST14 NM_130468.3(CHST14):c.638G>C (p.Arg213Pro)SNV Pathogenic 2337 rs121908257 15:40764050-40764050 15:40471851-40471851
10 CHST14 NM_130468.3(CHST14):c.527_530delinsGACAG (p.Val176fs)indel Pathogenic/Likely pathogenic 653458 15:40763939-40763942 15:40471740-40471743
11 CHST14 NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys)SNV Likely pathogenic 2339 rs121908258 15:40764290-40764290 15:40472091-40472091
12 CHST14 NM_130468.3(CHST14):c.784G>A (p.Glu262Lys)SNV Likely pathogenic 434766 rs1247205097 15:40764196-40764196 15:40471997-40471997
13 CHST14 NM_130468.3(CHST14):c.160dup (p.Ser54fs)duplication Likely pathogenic 575403 rs1566969054 15:40763571-40763572 15:40471372-40471373
14 CHST14 NM_130468.3(CHST14):c.807T>C (p.Asp269=)SNV Conflicting interpretations of pathogenicity 262313 rs139229738 15:40764219-40764219 15:40472020-40472020
15 CHST14 NM_130468.3(CHST14):c.635T>C (p.Val212Ala)SNV Conflicting interpretations of pathogenicity 373593 rs144629123 15:40764047-40764047 15:40471848-40471848
16 CHST14 NM_130468.3(CHST14):c.548A>G (p.Asp183Gly)SNV Uncertain significance 650778 15:40763960-40763960 15:40471761-40471761
17 CHST14 NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)SNV Uncertain significance 828118 15:40763848-40763848 15:40471649-40471649
18 CHST14 NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)SNV Uncertain significance 840958 15:40763812-40763812 15:40471613-40471613
19 CHST14 NM_130468.4(CHST14):c.628C>G (p.Leu210Val)SNV Uncertain significance 862106 15:40764040-40764040 15:40471841-40471841
20 CHST14 NM_130468.4(CHST14):c.729G>T (p.Arg243Ser)SNV Uncertain significance 861736 15:40764141-40764141 15:40471942-40471942
21 CHST14 NM_130468.4(CHST14):c.743G>C (p.Gly248Ala)SNV Uncertain significance 859068 15:40764155-40764155 15:40471956-40471956
22 CHST14 NM_130468.3(CHST14):c.77C>T (p.Pro26Leu)SNV Uncertain significance 656214 15:40763489-40763489 15:40471290-40471290
23 CHST14 NM_130468.3(CHST14):c.158C>A (p.Ser53Tyr)SNV Uncertain significance 641726 15:40763570-40763570 15:40471371-40471371
24 CHST14 NM_130468.3(CHST14):c.250C>A (p.Arg84Ser)SNV Uncertain significance 663357 15:40763662-40763662 15:40471463-40471463
25 CHST14 NM_130468.3(CHST14):c.275G>T (p.Gly92Val)SNV Uncertain significance 536423 rs754720949 15:40763687-40763687 15:40471488-40471488
26 CHST14 NM_130468.3(CHST14):c.1081C>G (p.Leu361Val)SNV Uncertain significance 579085 rs1566969372 15:40764493-40764493 15:40472294-40472294
27 CHST14 NM_130468.3(CHST14):c.869C>T (p.Ala290Val)SNV Uncertain significance 579344 rs763074027 15:40764281-40764281 15:40472082-40472082
28 CHST14 NM_130468.3(CHST14):c.130A>G (p.Met44Val)SNV Uncertain significance 579161 rs1043447552 15:40763542-40763542 15:40471343-40471343
29 CHST14 NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp)SNV Uncertain significance 440975 rs372422727 15:40764445-40764445 15:40472246-40472246
30 CHST14 NM_130468.3(CHST14):c.1036G>C (p.Ala346Pro)SNV Uncertain significance 451984 rs762133798 15:40764448-40764448 15:40472249-40472249
31 CHST14 NM_130468.3(CHST14):c.148A>T (p.Ile50Phe)SNV Uncertain significance 468548 rs1046833753 15:40763560-40763560 15:40471361-40471361
32 CHST14 NM_130468.3(CHST14):c.468G>C (p.Lys156Asn)SNV Uncertain significance 468549 rs1555410748 15:40763880-40763880 15:40471681-40471681
33 CHST14 NM_130468.3(CHST14):c.471G>A (p.Val157=)SNV Likely benign 536424 rs200761477 15:40763883-40763883 15:40471684-40471684
34 CHST14 NM_130468.3(CHST14):c.849C>T (p.Tyr283=)SNV Likely benign 536425 rs1438289059 15:40764261-40764261 15:40472062-40472062
35 CHST14 NM_130468.4(CHST14):c.151G>C (p.Val51Leu)SNV Likely benign 702717 15:40763563-40763563 15:40471364-40471364
36 CHST14 NM_130468.4(CHST14):c.315G>A (p.Arg105=)SNV Likely benign 772547 15:40763727-40763727 15:40471528-40471528
37 CHST14 NM_130468.4(CHST14):c.765C>T (p.Gly255=)SNV Likely benign 726379 15:40764177-40764177 15:40471978-40471978
38 CHST14 NM_130468.3(CHST14):c.288G>A (p.Arg96=)SNV Benign/Likely benign 210731 rs371684007 15:40763700-40763700 15:40471501-40471501
39 CHST14 NM_130468.3(CHST14):c.403C>G (p.Arg135Gly)SNV no interpretation for the single variant 242816 rs267606727 15:40763815-40763815 15:40471616-40471616
40 CHST14 NM_130468.3(CHST14):c.410T>A (p.Leu137Gln)SNV no interpretation for the single variant 242734 rs267606728 15:40763822-40763822 15:40471623-40471623

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

73
# 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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