MCID: EHL079
MIFTS: 31

Ehlers-Danlos Syndrome, Dermatosparaxis Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal 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 53 59 73
Dermatosparaxis 57 53 75 55 40
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive 57 29 6
Eds Viic 57 59 75
Eds7c 57 75
Ehlers-Danlos Syndrome Type Vii Autosomal Recessive 75
Ehlers-Danlos Syndrome Dermatosparaxis Type 75
Ehlers-Danlos Syndrome Arthrochalasic Type 75
Dermatosparaxis Ehlers-Danlos Syndrome 53
Ehlers-Danlos Syndrome, Type Viic 13
Ehlers-Danlos Syndrome Type 7c 59
Ehlers-Danlos Syndrome 7c 75
Dermatosparaxis Eds 53
Edsderms 57
Deds 53

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, dermatosparaxis type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
internal organ rupture may occur


HPO:

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


Classifications:



Summaries for Ehlers-Danlos Syndrome, Dermatosparaxis Type

NIH Rare Diseases : 53 Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inheritedconnective 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, arthrochalasia type, 1 and ehlers-danlos syndrome, 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). Affiliated tissues include skin and bone, and related phenotypes are osteopenia and muscular hypotonia

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)

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome 7C: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome.

Related Diseases for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Diseases related to Ehlers-Danlos Syndrome, Dermatosparaxis Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, arthrochalasia type, 1 11.4
2 ehlers-danlos syndrome 10.4
3 molluscum contagiosum 10.1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
joint laxity, marked

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia
recurrent mandibular subluxations

Head And Neck Mouth:
gingival bleeding
gingival hyperkeratosis
gingival hyperplasia
prominent lips
frontal open bite
more
Prenatal Manifestations Delivery:
premature rupture of membranes
premature delivery

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
downslanting palpebral fissures
epicanthal folds
puffy eyelids
more
Head And Neck Teeth:
hypodontia
tooth discoloration
deciduous molars show abnormal morphology
deciduous dentition shows enamel attrition

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

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

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

59 32 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
6 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
7 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
10 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
11 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
14 coxa valga 59 32 hallmark (90%) Very frequent (99-80%) HP:0002673
15 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
18 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
19 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
20 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
21 esophagitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100633
22 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
23 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
24 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
25 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
26 hiatus hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002036
27 avascular necrosis of the capital femoral epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005743
28 scarring 59 32 hallmark (90%) Very frequent (99-80%) HP:0100699
29 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392
30 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
31 mutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002300
32 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
33 abnormality of subcutaneous fat tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0001001
34 joint dislocation 59 Very frequent (99-80%)
35 gingival overgrowth 32 HP:0000212
36 umbilical hernia 32 HP:0001537
37 thick vermilion border 32 HP:0012471
38 short stature 32 HP:0004322
39 hernia 59 Very frequent (99-80%)
40 micromelia 32 HP:0002983
41 everted lower lip vermilion 32 HP:0000232
42 myopia 32 HP:0000545
43 short toe 32 HP:0001831
44 downslanted palpebral fissures 32 HP:0000494
45 joint laxity 32 HP:0001388
46 bruising susceptibility 32 HP:0000978
47 gingival bleeding 32 HP:0000225
48 hypodontia 32 HP:0000668
49 redundant skin 32 HP:0001582
50 wide anterior fontanel 32 HP:0000260

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


swelling of eyelid

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Search Clinical Trials , 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, Type Vii, Autosomal Recessive 29 ADAMTS2

Anatomical Context for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

41
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Articles related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

# Title Authors Year
1
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. ( 26765342 )
2016
2
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). ( 15389701 )
2004

Variations for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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

6
(show top 50) (show all 348)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS2 NM_014244.4(ADAMTS2): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic rs137853146 GRCh37 Chromosome 5, 178699927: 178699927
2 ADAMTS2 NM_014244.4(ADAMTS2): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic rs137853146 GRCh38 Chromosome 5, 179272926: 179272926
3 ADAMTS2 NM_014244.4(ADAMTS2): c.2384G> A (p.Trp795Ter) single nucleotide variant Likely pathogenic rs137853147 GRCh37 Chromosome 5, 178557006: 178557006
4 ADAMTS2 NM_014244.4(ADAMTS2): c.2384G> A (p.Trp795Ter) single nucleotide variant Likely pathogenic rs137853147 GRCh38 Chromosome 5, 179130005: 179130005
5 ADAMTS2 NG_023212.2: g.(6563_77264)_(169258_191449)del deletion Pathogenic GRCh38 Chromosome 5, 179158880: 179343766
6 ADAMTS2 NG_023212.2: g.(6563_77264)_(169258_191449)del deletion Pathogenic GRCh37 Chromosome 5, 178585881: 178770767
7 ADAMTS2 NM_014244.4(ADAMTS2): c.1281C> T (p.Asp427=) single nucleotide variant Benign/Likely benign rs34424371 GRCh37 Chromosome 5, 178581151: 178581151
8 ADAMTS2 NM_014244.4(ADAMTS2): c.1281C> T (p.Asp427=) single nucleotide variant Benign/Likely benign rs34424371 GRCh38 Chromosome 5, 179154150: 179154150
9 ADAMTS2 NM_014244.4(ADAMTS2): c.1629+9G> A single nucleotide variant Benign/Likely benign rs115550684 GRCh37 Chromosome 5, 178579134: 178579134
10 ADAMTS2 NM_014244.4(ADAMTS2): c.1629+9G> A single nucleotide variant Benign/Likely benign rs115550684 GRCh38 Chromosome 5, 179152133: 179152133
11 ADAMTS2 NM_014244.4(ADAMTS2): c.2959-17C> T single nucleotide variant Benign rs2303641 GRCh37 Chromosome 5, 178549791: 178549791
12 ADAMTS2 NM_014244.4(ADAMTS2): c.2959-17C> T single nucleotide variant Benign rs2303641 GRCh38 Chromosome 5, 179122790: 179122790
13 ADAMTS2 NM_014244.4(ADAMTS2): c.1194C> T (p.Asp398=) single nucleotide variant Benign rs2278221 GRCh37 Chromosome 5, 178581859: 178581859
14 ADAMTS2 NM_014244.4(ADAMTS2): c.1194C> T (p.Asp398=) single nucleotide variant Benign rs2278221 GRCh38 Chromosome 5, 179154858: 179154858
15 ADAMTS2 NM_014244.4(ADAMTS2): c.1238+18G> A single nucleotide variant Benign rs2278222 GRCh37 Chromosome 5, 178581797: 178581797
16 ADAMTS2 NM_014244.4(ADAMTS2): c.1238+18G> A single nucleotide variant Benign rs2278222 GRCh38 Chromosome 5, 179154796: 179154796
17 ADAMTS2 NM_014244.4(ADAMTS2): c.*2918G> A single nucleotide variant Likely benign rs60250623 GRCh37 Chromosome 5, 178537950: 178537950
18 ADAMTS2 NM_014244.4(ADAMTS2): c.*2918G> A single nucleotide variant Likely benign rs60250623 GRCh38 Chromosome 5, 179110949: 179110949
19 ADAMTS2 NM_014244.4(ADAMTS2): c.*2854T> C single nucleotide variant Uncertain significance rs11740156 GRCh37 Chromosome 5, 178538014: 178538014
20 ADAMTS2 NM_014244.4(ADAMTS2): c.*2854T> C single nucleotide variant Uncertain significance rs11740156 GRCh38 Chromosome 5, 179111013: 179111013
21 ADAMTS2 NM_014244.4(ADAMTS2): c.*2598A> G single nucleotide variant Uncertain significance rs371733200 GRCh37 Chromosome 5, 178538270: 178538270
22 ADAMTS2 NM_014244.4(ADAMTS2): c.*2598A> G single nucleotide variant Uncertain significance rs371733200 GRCh38 Chromosome 5, 179111269: 179111269
23 ADAMTS2 NM_014244.4(ADAMTS2): c.*2439C> T single nucleotide variant Likely benign rs78886769 GRCh37 Chromosome 5, 178538429: 178538429
24 ADAMTS2 NM_014244.4(ADAMTS2): c.*2439C> T single nucleotide variant Likely benign rs78886769 GRCh38 Chromosome 5, 179111428: 179111428
25 ADAMTS2 NM_014244.4(ADAMTS2): c.*2270C> T single nucleotide variant Uncertain significance rs886060483 GRCh37 Chromosome 5, 178538598: 178538598
26 ADAMTS2 NM_014244.4(ADAMTS2): c.*2270C> T single nucleotide variant Uncertain significance rs886060483 GRCh38 Chromosome 5, 179111597: 179111597
27 ADAMTS2 NM_014244.4(ADAMTS2): c.*2147C> T single nucleotide variant Uncertain significance rs886060484 GRCh37 Chromosome 5, 178538721: 178538721
28 ADAMTS2 NM_014244.4(ADAMTS2): c.*2147C> T single nucleotide variant Uncertain significance rs886060484 GRCh38 Chromosome 5, 179111720: 179111720
29 ADAMTS2 NM_014244.4(ADAMTS2): c.*1797C> T single nucleotide variant Uncertain significance rs553329835 GRCh38 Chromosome 5, 179112070: 179112070
30 ADAMTS2 NM_014244.4(ADAMTS2): c.*1797C> T single nucleotide variant Uncertain significance rs553329835 GRCh37 Chromosome 5, 178539071: 178539071
31 ADAMTS2 NM_014244.4(ADAMTS2): c.*1586A> G single nucleotide variant Benign rs888760 GRCh38 Chromosome 5, 179112281: 179112281
32 ADAMTS2 NM_014244.4(ADAMTS2): c.*1586A> G single nucleotide variant Benign rs888760 GRCh37 Chromosome 5, 178539282: 178539282
33 ADAMTS2 NM_014244.4(ADAMTS2): c.*1361A> G single nucleotide variant Uncertain significance rs142875628 GRCh38 Chromosome 5, 179112506: 179112506
34 ADAMTS2 NM_014244.4(ADAMTS2): c.*1361A> G single nucleotide variant Uncertain significance rs142875628 GRCh37 Chromosome 5, 178539507: 178539507
35 ADAMTS2 NM_014244.4(ADAMTS2): c.*843G> A single nucleotide variant Uncertain significance rs778909760 GRCh38 Chromosome 5, 179113024: 179113024
36 ADAMTS2 NM_014244.4(ADAMTS2): c.*843G> A single nucleotide variant Uncertain significance rs778909760 GRCh37 Chromosome 5, 178540025: 178540025
37 ADAMTS2 NM_014244.4(ADAMTS2): c.*816C> T single nucleotide variant Uncertain significance rs116130524 GRCh38 Chromosome 5, 179113051: 179113051
38 ADAMTS2 NM_014244.4(ADAMTS2): c.*816C> T single nucleotide variant Uncertain significance rs116130524 GRCh37 Chromosome 5, 178540052: 178540052
39 ADAMTS2 NM_014244.4(ADAMTS2): c.*181C> T single nucleotide variant Uncertain significance rs886060489 GRCh37 Chromosome 5, 178540687: 178540687
40 ADAMTS2 NM_014244.4(ADAMTS2): c.*181C> T single nucleotide variant Uncertain significance rs886060489 GRCh38 Chromosome 5, 179113686: 179113686
41 ADAMTS2 NM_014244.4(ADAMTS2): c.3480C> A (p.Ala1160=) single nucleotide variant Benign/Likely benign rs34437036 GRCh37 Chromosome 5, 178541024: 178541024
42 ADAMTS2 NM_014244.4(ADAMTS2): c.3480C> A (p.Ala1160=) single nucleotide variant Benign/Likely benign rs34437036 GRCh38 Chromosome 5, 179114023: 179114023
43 ADAMTS2 NM_014244.4(ADAMTS2): c.3449A> G (p.Asn1150Ser) single nucleotide variant Uncertain significance rs200982805 GRCh37 Chromosome 5, 178541055: 178541055
44 ADAMTS2 NM_014244.4(ADAMTS2): c.3449A> G (p.Asn1150Ser) single nucleotide variant Uncertain significance rs200982805 GRCh38 Chromosome 5, 179114054: 179114054
45 ADAMTS2 NM_014244.4(ADAMTS2): c.2980G> A (p.Gly994Ser) single nucleotide variant Uncertain significance rs142429109 GRCh37 Chromosome 5, 178549753: 178549753
46 ADAMTS2 NM_014244.4(ADAMTS2): c.2980G> A (p.Gly994Ser) single nucleotide variant Uncertain significance rs142429109 GRCh38 Chromosome 5, 179122752: 179122752
47 ADAMTS2 NM_014244.4(ADAMTS2): c.2817C> T (p.Ser939=) single nucleotide variant Conflicting interpretations of pathogenicity rs201215425 GRCh37 Chromosome 5, 178552115: 178552115
48 ADAMTS2 NM_014244.4(ADAMTS2): c.2817C> T (p.Ser939=) single nucleotide variant Conflicting interpretations of pathogenicity rs201215425 GRCh38 Chromosome 5, 179125114: 179125114
49 ADAMTS2 NM_014244.4(ADAMTS2): c.2532C> T (p.Asp844=) single nucleotide variant Benign rs2303644 GRCh38 Chromosome 5, 179128044: 179128044
50 ADAMTS2 NM_014244.4(ADAMTS2): c.2532C> T (p.Asp844=) single nucleotide variant Benign rs2303644 GRCh37 Chromosome 5, 178555045: 178555045

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

Sources for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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