EDSDERMS
MCID: EHL079
MIFTS: 52

Ehlers-Danlos Syndrome, Dermatosparaxis Type (EDSDERMS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Dermatosparaxis Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Dermatosparaxis Type:

Name: Ehlers-Danlos Syndrome, Dermatosparaxis Type 57 20 72 70
Dermatosparaxis 57 20 72 54 39
Ehlers-Danlos Syndrome Dermatosparaxis Type 12 29 6 15
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive 57 72
Dermatosparaxis Ehlers-Danlos Syndrome 20 58
Dermatosparaxis Eds 20 58
Edsderms 57 72
Eds Viic 57 72
Eds7c 57 72
Deds 20 58
Ehlers-Danlos Syndrome, Type Viic 13
Ehlers-Danlos Syndrome Type 7c 58
Human Dermatosparaxis Eds Viic 58
Ehlers-Danlos Syndrome 7c 72

Characteristics:

Orphanet epidemiological data:

58
dermatosparaxis ehlers-danlos syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
internal organ rupture may occur


HPO:

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


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Dermatosparaxis Type

GARD : 20 Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias ; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes ( mutations ) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Ehlers-Danlos Syndrome, Dermatosparaxis Type, also known as dermatosparaxis, is related to ehlers-danlos syndrome and cutis laxa, and has symptoms including swelling of eyelid An important gene associated with Ehlers-Danlos Syndrome, Dermatosparaxis Type is ADAMTS2 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2), and among its related pathways/superpathways are HIV Life Cycle and O-linked glycosylation. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are dysphasia and osteopenia

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has material basis in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.

OMIM® : 57 Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. (225410) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, dermatosparaxis type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.

Related Diseases for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:



Diseases related to Ehlers-Danlos Syndrome, Dermatosparaxis Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Human phenotypes related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
4 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
5 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
6 rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0002748
7 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
8 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
9 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
10 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
11 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
12 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
13 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
14 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
15 hiatus hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002036
16 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
17 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
18 avascular necrosis of the capital femoral epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005743
19 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
20 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
21 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
22 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
23 esophagitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100633
24 scarring 58 31 hallmark (90%) Very frequent (99-80%) HP:0100699
25 abnormality of subcutaneous fat tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0001001
26 hypotonia 31 hallmark (90%) HP:0001252
27 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
28 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
29 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
30 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
31 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
32 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
33 femoral hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100541
34 muscular hypotonia 58 Very frequent (99-80%)
35 gingival overgrowth 31 HP:0000212
36 umbilical hernia 31 HP:0001537
37 thick vermilion border 31 HP:0012471
38 short stature 31 HP:0004322
39 hernia 58 Very frequent (99-80%)
40 everted lower lip vermilion 31 HP:0000232
41 myopia 31 HP:0000545
42 short toe 31 HP:0001831
43 motor delay 31 HP:0001270
44 joint laxity 31 HP:0001388
45 downslanted palpebral fissures 31 HP:0000494
46 joint dislocation 58 Very frequent (99-80%)
47 hypodontia 31 HP:0000668
48 redundant skin 31 HP:0001582
49 gingival bleeding 31 HP:0000225
50 bruising susceptibility 31 HP:0000978

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
joint laxity, marked

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia
recurrent mandibular subluxations

Head And Neck Teeth:
hypodontia
tooth discoloration
deciduous molars show abnormal morphology
deciduous dentition shows enamel attrition

Skin Nails Hair Skin:
soft, doughy skin
skin fragility
normal wound healing
easy bruisability
sagging, redundant skin

Head And Neck Head:
large anterior fontanel
delayed closure anterior fontanel

Skeletal Limbs:
short limbs

Skeletal Feet:
short toes

Skin Nails Hair Skin Electron Microscopy:
collagen fibrils show hieroglyphic pattern

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Head And Neck Eyes:
myopia
blue sclerae
blepharochalasis
downslanting palpebral fissures
epicanthal folds
more
Head And Neck Mouth:
gingival bleeding
gingival hyperkeratosis
frontal open bite
gingival hyperplasia
prominent lips
more
Prenatal Manifestations Delivery:
premature rupture of membranes
premature delivery

Skeletal Hands:
short fingers

Neurologic Central Nervous System:
delayed motor milestones

Respiratory Lung:
neonatal pneumothorax

Skin Nails Hair Hair:
hirsutism, mild

Clinical features from OMIM®:

225410 (Updated 05-Apr-2021)

UMLS symptoms related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:


swelling of eyelid

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6 Immunologic Factors Phase 4
7 Immunosuppressive Agents Phase 4
8 Antirheumatic Agents Phase 4
9 Dermatologic Agents Phase 4
10 Calcineurin Inhibitors Phase 4
11 Antifungal Agents Phase 4
12 Anti-Infective Agents Phase 4
13 Lubricant Eye Drops Phase 4
14 Anti-Allergic Agents Phase 4
15 Gastrointestinal Agents Phase 4
16 Antiemetics Phase 4
17 Hormone Antagonists Phase 4
18 glucocorticoids Phase 4
19 Hormones Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Anti-Inflammatory Agents Phase 4
22 BB 1101 Phase 4
23
Varenicline Approved, Investigational Phase 3 249296-44-4 5310966
24
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
25 Pharmaceutical Solutions Phase 2, Phase 3
26 Ophthalmic Solutions Phase 2, Phase 3
27 Cyclosporins Phase 2, Phase 3
28 Adrenergic alpha-Agonists Phase 3
29 Adrenergic Agents Phase 3
30 Neurotransmitter Agents Phase 3
31 Brimonidine Tartrate Phase 3 70359-46-5
32 Adrenergic Agonists Phase 3
33 Antihypertensive Agents Phase 3
34 Carboxymethylcellulose Sodium Phase 2
35 Cathartics Phase 2
36 Laxatives Phase 2
37
Ethanol Approved 64-17-5 702
38
Ofloxacin Approved 82419-36-1 4583
39
Levofloxacin Approved, Investigational 100986-85-4 149096
40
Sodium citrate Approved, Investigational 68-04-2
41
Sorbitol Approved 50-70-4 5780
42
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
43
Tocopherol Approved, Investigational 1406-66-2
44
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
45
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
46
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
47 Tocotrienol Investigational 6829-55-6
48 Antibiotics, Antitubercular
49 Anti-Bacterial Agents
50 Citrate

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
2 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
3 The Utility of in Vivo Confocal Microscopy (IVCM) to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye Disease (DED) Completed NCT02120079 Phase 4 Lotemax;Soothe Tired Eyes Lubricant Eye Drop (Artificial Tears)
4 Intracanalicular Dexamethasone Used in Conjunction With LipiFlow for the Treatment of Meibomian Gland Dysfunction in Patients With Evaporative Dry Eye Disease and Evidence of Clinically Significant Inflammation Recruiting NCT04413279 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg with LipiFlow Thermal Pulsation
5 A Multi-Center, Double-Masked, Randomized, One-Year Safety Study of EBI-005 5 mg/mL Topical Ophthalmic Solution Versus Vehicle-Control in Subjects With Dry Eye Disease (DED) Unknown status NCT02405039 Phase 3 EBI-005;Placebo
6 A Phase 3, Multi-Center, Randomized, Double-Masked, Saline-Controlled Trial to Evaluate the Effect of NOV03 (Perfluorohexyloctane) on Signs and Symptoms of Dry Eye Disease Associated With Meibomian Gland Dysfunction (Gobi Study) Completed NCT04139798 Phase 3 NOV03;Placebo
7 A Multi-Center, Double-Masked, Randomized, Controlled, Efficacy and Safety Study of EBI-005 5 mg/mL Topical Ophthalmic Solution Versus Vehicle Contraol In Subjects With Moderate to Severe Dry Eye Disease Completed NCT01998802 Phase 3 Active Comparator EBI-005;Placebo Comparator
8 A Phase 3, Multicenter, Randomized, Controlled, Double-Masked, Clinical Trial to Evaluate the Efficacy of OC-01 (Varenicline) Nasal Spray on Signs and Symptoms of Dry Eye Disease (The ONSET-2 Study) Completed NCT04036292 Phase 3 OC-01;Placebos
9 A Phase 3 Randomized, Placebo-Controlled, Double-Masked, Multicenter, Safety and Efficacy Study of Brimonidine Tartrate 0.2% Nanoemulsion Eye Drops in Patients With Dry Eye Disease (DED) Completed NCT03785340 Phase 3 Brimonidine Tartrate;Placebos
10 A Phase 2b/3, Multicenter, Randomized, Double-masked, Vehicle-controlled Clinical Study to Assess the Efficacy and Safety of Topical CyclASol® for the Treatment of Signs and Symptoms of Dry Eye Disease (DED) (ESSENCE Trial) Completed NCT03292809 Phase 2, Phase 3 CyclASol topical ocular, eye drops;Vehicle topical ocular, eye drops
11 A Phase 3, Multi-center, Open-label, Single-arm Clinical Trial to Assess the Long-term Safety and Tolerability of Topical CyclASol® for the Treatment of Dry Eye Disease in Subjects Who Completed the Clinical Trial CYS-004 Recruiting NCT04523142 Phase 3 CyclASol Ophthalmic Solution
12 A Phase 3, Multi-Center, Open-Label, Single-Arm Extension Clinical Trial to Assess the Extended Long-Term Safety and Tolerability of NOV03 (Perfluorohexyloctane) in Subjects Who Completed Trial NVU-003 (Kalahari Study) Recruiting NCT04140227 Phase 3 NOV03
13 A Multicenter, Single-masked, Randomized Study to Compare the Efficacy and Safety of a New Artificial Tear Formulation With Systane® Ultra Multidose for 90 Days in Participants With Dry Eye Disease Active, not recruiting NCT04393441 Phase 3 New Artificial Tear Formulation;Systane Ultra Multidose
14 Multicenter, Randomized, Controlled, Double-Masked Clinical Trial to Evaluate the Efficacy of OC-01 Nasal Spray on Signs and Symptoms of Dry Eye Disease (The ONSET-1 Study) Completed NCT03636061 Phase 2 OC-01;Placebos
15 Multicenter, Randomized, Controlled, Double-Masked Clinical Trial to Evaluate the Efficacy of OC-02 Nasal Spray on Signs and Symptoms of Dry Eye Disease (The PEARL Study) Completed NCT03452397 Phase 2 OC-02;Placebos
16 A Phase 2, Multi-Center, Randomized, Double-Masked, Saline-Controlled Study to Evaluate the Effect of Perfluorohexyloctane (NOV03) at Two Different Dosing Regimens on Signs and Symptoms of Dry Eye Disease (DED) Completed NCT03333057 Phase 2 NOV03;Placebo
17 A Randomized, Multi-Center, Parallel-Group, Safety and Efficacy Study of Lotemax® Gel 0.5% and Restasis 0.05% for 12 Weeks in Subjects With Mild or Moderate Keratoconjunctivitis Sicca (Dry Eye Disease; DED) Completed NCT01817582 Phase 2 Lotemax;Restasis;Soothe® Lubricant Eye Drops
18 A Multicenter, Vehicle-controlled, Randomized Study to Evaluate the Safety, Tolerability, Systemic Pharmacokinetics, and Pharmacodynamics of AXR-159 Ophthalmic Solution 3 mg/mL, 30 mg/mL, and 50 mg/mL in Patients With Dry Eye Disease (DED) Completed NCT03598699 Phase 2 AXR-159
19 A Phase 2, Multicenter, Double-Masked, Randomized, Vehicle-Controlled, Parallel Group, Dose-Response Study of SDP-4 Ophthalmic Solution in Subjects With Dry Eye Disease (DED) Completed NCT03889886 Phase 2 SDP-4 Ophthalmic Solution (0.1%);SDP-4 Ophthalmic Solution (1.0%);SDP-4 Ophthalmic Solution (3.0%);Vehicle
20 A Randomized, Placebo-Controlled, Double-Blind, Multicenter, Proof-of-Concept Study of Brimonidine Eye Drops for the Treatment of Dry Eye Disease (DED) Completed NCT03418727 Phase 2 Brimonidine;Brimonidine Mono Therapy;sodium carboxymethylcellulose;Corticosteroid Eye Drop
21 A Multicenter, Vehicle-controlled, Randomized Study to Evaluate the Safety, Tolerability, Systemic Pharmacokinetics, and Pharmacodynamics of AZR-MD-001 in Patients With Meibomian Gland Dysfunction (MGD) and Evaporative Dry Eye Disease (DED) Recruiting NCT03652051 Phase 2 AZR-MD-001 Low Dose;AZR-MD-001 Mid Dose;AZR-MD-001 High Dose;AZR-MD-001 Vehicle
22 A Randomized, Multi-center, Double-masked, Vehicle-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, and Efficacy of OTX-CSI (Cyclosporine Ophthalmic Insert) for Intracanalicular Use for the Treatment of Subjects With Dry Eye Disease (DED) Recruiting NCT04362670 Phase 1, Phase 2 OTX-CSI
23 A Phase 2, Multicenter, Double-Masked, Randomized, Vehicle-Controlled, Parallel Group, Study of SDP-4 Ophthalmic Solution in Subjects With Dry Eye Disease (DED) Recruiting NCT04535947 Phase 2 Vehicle;SDP-4 Ophthalmic Solution (1.0%)
24 A Randomized, Double-Masked, Vehicle-Controlled, Phase 2 Study to Evaluate the Efficacy and Safety of OTX-DED (Dexamethasone Intracanalicular Ophthalmic Insert) for the Short-Term Treatment of Signs and Symptoms of Dry Eye Disease (DED) Not yet recruiting NCT04747977 Phase 2 OTX-DED;OTX-DED;OTX-DED
25 Automatic Self Transcending Meditation (ASTM) Plus Treatment As Usual (TAU) Versus TAU Alone in Patients With Dry Eye Disease (DED): a Single Blind Randomized Controlled Longitudinal Study Unknown status NCT03087006
26 The Feasibility of Fingerprick Autologous Blood (FAB) As a Novel Treatment for Severe Dry Eye Disease (DED) Unknown status NCT03395431
27 A Randomized Controlled Trial to Evaluate the Efficiency of Serum Tears Made With Genius PRP for Improving Signs and Symptoms in Dry Eye Disease (DED) Unknown status NCT03286166
28 Evaluation of the Performance of MAF-1217 on Surgery Induced DED When Administered Pre-operatively in Patients Undergoing Cataract Surgery Completed NCT03833908
29 Evaluation of the Performance of the Tear Substitute MAF-1217 in Patients With Evaporative DED Completed NCT03833882
30 A Food Additive Removal Diet for Pediatric Eosinophilic Esophagitis Recruiting NCT03657771
31 Assessing a Self-care Management Program for Dry Eye Disease Patients Using the Health Educational Intervention Questionnaire Active, not recruiting NCT03467490
32 Clinical Investigation to Assess the Efficacy and the Safety of VisuXL® Ophthalmic Gel Administered in Patients Affected by Moderate Dry Eye Disease (DED): a Randomized, Cross Over, Double Blind Study Active, not recruiting NCT04485533

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Genetic Tests for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Genetic tests related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Dermatosparaxis Type 29 ADAMTS2

Anatomical Context for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

40
Eye, Skin, Bone

Publications for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Articles related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

(show top 50) (show all 81)
# Title Authors PMID Year
1
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 54 57 6 61
15389701 2004
2
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 57 6 54 61
10417273 1999
3
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. 6 61 57 54
1642226 1992
4
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. 61 6 57
26765342 2016
5
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC). 57 6 61
7735500 1995
6
Dermatosparaxis in children. A case report and review of the newly recognized phenotype. 6 57 61
8215497 1993
7
Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. 6 57
18973246 2008
8
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. 57 6
15373769 2004
9
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. 6 61
23495203 2013
10
Ehlers-Danlos type VII-C, or human dermatosparaxis. The offspring of a union between basic and clinical research. 61 57
8215498 1993
11
Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC. 57 61
1403389 1992
12
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. 61 57
1303238 1992
13
Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen. 57 61
7351497 1980
14
Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen. 57 61
7351504 1980
15
Inheritance of dermatosparaxis in the calf. A genetic defect of connective tissues. 61 57
4448898 1974
16
Procollagen peptidase: an enzyme excising the coordination peptides of procollagen. 57 61
5289249 1971
17
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC. 6
8986271 1997
18
Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes. 57
3733683 1986
19
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. 57
6773953 1980
20
A hereditary dysplasia of collagen tissues in sheep. 57
4835120 1974
21
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. 57
4742738 1973
22
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). 54 61
12969232 2003
23
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. 61 54
12646579 2003
24
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. 54 61
11741898 2002
25
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. 54 61
11408482 2001
26
Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. 61
33693443 2020
27
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. 61
31294848 2019
28
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review. 61
28981071 2018
29
Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2. 61
28856769 2017
30
Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review. 61
28836281 2017
31
The Ehlers-Danlos syndromes, rare types. 61
28306225 2017
32
RIN2 syndrome: Expanding the clinical phenotype. 61
27277385 2016
33
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. 61
26879370 2016
34
Dermatosparaxis in two Limousin calves. 61
27777746 2016
35
In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis. 61
25354687 2015
36
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. 61
25637337 2015
37
Connective tissue disorders in domestic animals. 61
24443030 2014
38
A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. 61
22497338 2012
39
The Ehlers-Danlos syndrome, a disorder with many faces. 61
22353005 2012
40
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. 61
22787447 2012
41
Dermatosparaxis in two white Dorper lambs. 61
21851305 2011
42
[Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB)]. 61
20361398 2010
43
The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa. 61
18678187 2008
44
Ehlers-Danlos syndromes and Marfan syndrome. 61
18328988 2008
45
[Ehlers-Danlos syndrome--20 years experience with diagnosis and classification at the university skin clinic of Heidelberg]. 61
16638060 2006
46
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis. 61
16556917 2006
47
Hereditary equine regional dermal asthenia in three related Quarter horses in Brazil. 61
15842544 2005
48
Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat. 61
15002808 2004
49
ADAMTS: a novel family of extracellular matrix proteases. 61
11167130 2001
50
[Boy with dermatosparaxis (Ehlers-Danlos type VIIC)]. 61
11233042 2000

Variations for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

6 (show top 50) (show all 459)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTS2 and overlap with 1 gene(s) NG_023212.2:g.(6563_77264)_(169258_191449)del Deletion Pathogenic 5504 GRCh37: 5:178585881-178770767
GRCh38: 5:179158880-179343766
2 ADAMTS2 NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter) SNV Pathogenic 581454 rs966437723 GRCh37: 5:178549645-178549645
GRCh38: 5:179122644-179122644
3 ADAMTS2 NM_014244.5(ADAMTS2):c.32del (p.Leu11fs) Deletion Pathogenic 658082 rs1581302068 GRCh37: 5:178772298-178772298
GRCh38: 5:179345297-179345297
4 ADAMTS2 NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs) Duplication Pathogenic 841489 GRCh37: 5:178580493-178580494
GRCh38: 5:179153492-179153493
5 ADAMTS2 NC_000005.10:g.(?_179272901)_(179273074_?)del Deletion Pathogenic 831963 GRCh37: 5:178699902-178700075
GRCh38:
6 ADAMTS2 NC_000005.10:g.179207716del Deletion Pathogenic 836198 GRCh37: 5:178634714-178634714
GRCh38: 5:179207713-179207713
7 ADAMTS2 NM_014244.5(ADAMTS2):c.55del (p.Leu19fs) Deletion Pathogenic 945961 GRCh37: 5:178772275-178772275
GRCh38: 5:179345274-179345274
8 ADAMTS2 NM_014244.5(ADAMTS2):c.842dup (p.His282fs) Duplication Pathogenic 952616 GRCh37: 5:178634562-178634563
GRCh38: 5:179207561-179207562
9 ADAMTS2 NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter) SNV Pathogenic 838442 GRCh37: 5:178557005-178557005
GRCh38: 5:179130004-179130004
10 ADAMTS2 NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs) Deletion Pathogenic 934514 GRCh37: 5:178552005-178552005
GRCh38: 5:179125004-179125004
11 ADAMTS2 NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) SNV Pathogenic 5502 rs137853146 GRCh37: 5:178699927-178699927
GRCh38: 5:179272926-179272926
12 ADAMTS2 NM_014244.5(ADAMTS2):c.2085+1G>T SNV Pathogenic/Likely pathogenic 847713 GRCh37: 5:178562909-178562909
GRCh38: 5:179135908-179135908
13 ADAMTS2 NM_014244.5(ADAMTS2):c.1383-2A>G SNV Likely pathogenic 841384 GRCh37: 5:178580626-178580626
GRCh38: 5:179153625-179153625
14 ADAMTS2 NM_014244.5(ADAMTS2):c.2458-2A>G SNV Likely pathogenic 969740 GRCh37: 5:178555121-178555121
GRCh38: 5:179128120-179128120
15 ADAMTS2 NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs) Deletion Likely pathogenic 554209 rs1554123627 GRCh37: 5:178549663-178549663
GRCh38: 5:179122662-179122662
16 ADAMTS2 NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter) Duplication Likely pathogenic 556099 rs1554125059 GRCh37: 5:178567027-178567028
GRCh38: 5:179140026-179140027
17 ADAMTS2 NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) SNV Likely pathogenic 5503 rs137853147 GRCh37: 5:178557006-178557006
GRCh38: 5:179130005-179130005
18 ADAMTS2 NM_014244.5(ADAMTS2):c.2458-6_2458del Deletion Likely pathogenic 371445 rs1057517277 GRCh37: 5:178555119-178555125
GRCh38: 5:179128118-179128124
19 ADAMTS2 NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) SNV Conflicting interpretations of pathogenicity 353096 rs201215425 GRCh37: 5:178552115-178552115
GRCh38: 5:179125114-179125114
20 ADAMTS2 NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) SNV Conflicting interpretations of pathogenicity 353111 rs372661052 GRCh37: 5:178559842-178559842
GRCh38: 5:179132841-179132841
21 ADAMTS2 NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) SNV Conflicting interpretations of pathogenicity 353097 rs557019144 GRCh37: 5:178552121-178552121
GRCh38: 5:179125120-179125120
22 ADAMTS2 NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) SNV Conflicting interpretations of pathogenicity 469675 rs780314895 GRCh37: 5:178549739-178549739
GRCh38: 5:179122738-179122738
23 ADAMTS2 NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) SNV Conflicting interpretations of pathogenicity 353112 rs200210415 GRCh37: 5:178559878-178559878
GRCh38: 5:179132877-179132877
24 ADAMTS2 NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) Microsatellite Conflicting interpretations of pathogenicity 353148 rs568040559 GRCh37: 5:178772260-178772262
GRCh38: 5:179345259-179345261
25 ADAMTS2 NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) SNV Conflicting interpretations of pathogenicity 389834 rs150079799 GRCh37: 5:178585773-178585773
GRCh38: 5:179158772-179158772
26 ADAMTS2 NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) SNV Conflicting interpretations of pathogenicity 508319 rs150535792 GRCh37: 5:178549715-178549715
GRCh38: 5:179122714-179122714
27 ADAMTS2 NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) SNV Conflicting interpretations of pathogenicity 353122 rs147259971 GRCh37: 5:178580576-178580576
GRCh38: 5:179153575-179153575
28 ADAMTS2 NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) SNV Conflicting interpretations of pathogenicity 377440 rs140022033 GRCh37: 5:178552137-178552137
GRCh38: 5:179125136-179125136
29 ADAMTS2 NM_014244.5(ADAMTS2):c.139+4G>A SNV Conflicting interpretations of pathogenicity 678955 rs1023653032 GRCh37: 5:178772187-178772187
GRCh38: 5:179345186-179345186
30 ADAMTS2 NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) SNV Conflicting interpretations of pathogenicity 787364 rs753246905 GRCh37: 5:178634643-178634643
GRCh38: 5:179207642-179207642
31 ADAMTS2 NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) SNV Conflicting interpretations of pathogenicity 680209 rs139249329 GRCh37: 5:178634607-178634607
GRCh38: 5:179207606-179207606
32 ADAMTS2 NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) SNV Conflicting interpretations of pathogenicity 353106 rs188566209 GRCh37: 5:178557098-178557098
GRCh38: 5:179130097-179130097
33 ADAMTS2 NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) SNV Conflicting interpretations of pathogenicity 353133 rs143764421 GRCh37: 5:178634657-178634657
GRCh38: 5:179207656-179207656
34 ADAMTS2 NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) SNV Conflicting interpretations of pathogenicity 353104 rs141661592 GRCh37: 5:178556951-178556951
GRCh38: 5:179129950-179129950
35 ADAMTS2 NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) SNV Conflicting interpretations of pathogenicity 353090 rs79606317 GRCh37: 5:178541162-178541162
GRCh38: 5:179114161-179114161
36 ADAMTS2 NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) SNV Conflicting interpretations of pathogenicity 353116 rs200806292 GRCh37: 5:178562980-178562980
GRCh38: 5:179135979-179135979
37 ADAMTS2 NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) SNV Conflicting interpretations of pathogenicity 706820 rs752737484 GRCh37: 5:178564807-178564807
GRCh38: 5:179137806-179137806
38 ADAMTS2 NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) SNV Conflicting interpretations of pathogenicity 514658 rs546361762 GRCh37: 5:178552040-178552040
GRCh38: 5:179125039-179125039
39 ADAMTS2 NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) SNV Conflicting interpretations of pathogenicity 469660 rs199664723 GRCh37: 5:178581904-178581904
GRCh38: 5:179154903-179154903
40 ADAMTS2 NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) SNV Conflicting interpretations of pathogenicity 537406 rs141650732 GRCh37: 5:178559254-178559254
GRCh38: 5:179132253-179132253
41 ADAMTS2 NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) SNV Conflicting interpretations of pathogenicity 353124 rs141348218 GRCh37: 5:178581889-178581889
GRCh38: 5:179154888-179154888
42 ADAMTS2 NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) SNV Uncertain significance 353135 rs372103269 GRCh37: 5:178634681-178634681
GRCh38: 5:179207680-179207680
43 ADAMTS2 NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) SNV Uncertain significance 353131 rs376820857 GRCh37: 5:178634621-178634621
GRCh38: 5:179207620-179207620
44 ADAMTS2 NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) SNV Uncertain significance 353094 rs200309353 GRCh37: 5:178552098-178552098
GRCh38: 5:179125097-179125097
45 ADAMTS2 NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr) Indel Uncertain significance 840632 GRCh37: 5:178564792-178564793
GRCh38: 5:179137791-179137792
46 ADAMTS2 NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr) SNV Uncertain significance 849475 GRCh37: 5:178541128-178541128
GRCh38: 5:179114127-179114127
47 ADAMTS2 NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln) SNV Uncertain significance 850774 GRCh37: 5:178564775-178564775
GRCh38: 5:179137774-179137774
48 ADAMTS2 NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=) SNV Uncertain significance 852081 GRCh37: 5:178771074-178771074
GRCh38: 5:179344073-179344073
49 ADAMTS2 NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly) SNV Uncertain significance 855745 GRCh37: 5:178770863-178770863
GRCh38: 5:179343862-179343862
50 ADAMTS2 NM_014244.5(ADAMTS2):c.1629+6G>A SNV Uncertain significance 936906 GRCh37: 5:178579137-178579137
GRCh38: 5:179152136-179152136

Expression for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

Pathways for Ehlers-Danlos Syndrome, Dermatosparaxis Type

GO Terms for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 PAPLN CCBE1 ADAMTSL5 ADAMTSL1 ADAMTS4 ADAMTS2
2 extracellular matrix GO:0031012 9.1 PAPLN CCBE1 ADAMTSL5 ADAMTSL1 ADAMTS4 ADAMTS2

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.35 PAPLN ADAMTSL5 ADAMTSL1 ADAMTS4 ADAMTS2
2 lung development GO:0030324 9.16 CCBE1 ADAMTS2
3 extracellular matrix organization GO:0030198 9.02 PAPLN ADAMTSL5 ADAMTSL1 ADAMTS4 ADAMTS2

Molecular functions related to Ehlers-Danlos Syndrome, Dermatosparaxis Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.16 ADAMTS4 ADAMTS2
2 metalloendopeptidase activity GO:0004222 9.02 PAPLN ADAMTSL5 ADAMTSL1 ADAMTS4 ADAMTS2
3 protease binding GO:0002020 8.96 CCBE1 ADAMTS4

Sources for Ehlers-Danlos Syndrome, Dermatosparaxis Type

3 CDC
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