EDSARTH1
MCID: EHL075
MIFTS: 37

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 (EDSARTH1)

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

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

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

Name: Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 57 72 6
Arthrochalasis Multiplex Congenita 57 72
Ehlers-Danlos Syndrome, Type Viia 13 39
Ehlers-Danlos Syndrome, Type 7a 29 6
Edsarth1 57 72
Eds Viia 57 72
Eds7a 57 72
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 57
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 57
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 72
Ehlers-Danlos Syndrome Arthrochalasia Type 1 12
Ehlers-Danlos Syndrome, Arthrochalasia Type 70
Ehlers-Danlos Syndrome Arthrochalasic Type 72
Eds Vii, Mutant Procollagen Type 57
Eds Vii Mutant Procollagen Type 72
Ehlers-Danlos Syndrome 7a 72
Eds Viib 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ehlers-danlos syndrome, arthrochalasia type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, arthrochalasia type, 1: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.

MalaCards based summary : Ehlers-Danlos Syndrome, Arthrochalasia Type, 1, also known as arthrochalasis multiplex congenita, is related to arthrochalasia ehlers-danlos syndrome and ehlers-danlos syndrome, arthrochalasia type, 2. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways is Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone and liver, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has material basis in heterozygous mutation in the COL1A1 on chromosome 17q21.

OMIM® : 57 Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). (130060) (Updated 20-May-2021)

Related Diseases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 osteopenia 31 HP:0000938
4 joint laxity 31 HP:0001388
5 malar flattening 31 HP:0000272
6 bruising susceptibility 31 HP:0000978
7 hyperextensible skin 31 HP:0000974
8 midface retrusion 31 HP:0011800
9 delayed gross motor development 31 HP:0002194
10 increased susceptibility to fractures 31 HP:0002659
11 generalized hypotonia 31 HP:0001290
12 mild short stature 31 HP:0003502
13 atrophic scars 31 HP:0001075
14 joint subluxation 31 HP:0032153
15 poor wound healing 31 HP:0001058
16 congenital bilateral hip dislocation 31 HP:0008780
17 soft skin 31 HP:0000977
18 breech presentation 31 HP:0001623
19 premature osteoarthritis 31 HP:0003088
20 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis

Skin Nails Hair Skin:
hyperextensible skin
atrophic scars
poor wound healing
easy bruisability
thin, velvety skin

Skeletal Pelvis:
congenital bilateral hip dislocation

Head And Neck Face:
midface hypoplasia

Skeletal:
osteopenia
premature osteoarthritis
joint laxity, severe
recurrent joint subluxation
fractures

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Prenatal Manifestations Delivery:
breech presentation

Growth Height:
short stature, mild to moderate

Clinical features from OMIM®:

130060 (Updated 20-May-2021)

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

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

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

Genetic tests related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 7a 29

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

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

40
Bone, Liver

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

(show all 12)
# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 6 57
18409203 2008
2
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 6 57
1867198 1991
3
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 6 57
2767050 1989
4
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. 57 6
3082886 1986
5
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 57 6
6462220 1984
6
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 57 61
9295084 1997
7
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
8
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. 57
1303238 1992
9
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
10
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII. 57
3019133 1986
11
Molecular pathology in inherited disorders of collagen metabolism. 57
7042525 1982
12
Arthrochalasis multiplex congenita; congenital flaccidity of the joints. 57
13539092 1958

Variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

6 (show top 50) (show all 458)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) SNV Pathogenic 17311 rs72667022 GRCh37: 17:48275794-48275794
GRCh38: 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.472-1G>A SNV Pathogenic 17339 rs72667020 GRCh37: 17:48275866-48275866
GRCh38: 17:50198505-50198505
3 COL1A1 NM_000088.3(COL1A1):c.472-2A>T SNV Pathogenic 17350 rs72667019 GRCh37: 17:48275867-48275867
GRCh38: 17:50198506-50198506
4 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln) SNV Pathogenic 18185 rs74821926 GRCh37: 4:74270115-74270115
GRCh38: 4:73404398-73404398
5 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
6 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
7 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
8 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
9 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
10 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
11 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
12 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely pathogenic 450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
13 COL1A1 NM_000088.3(COL1A1):c.*243_*244dup Duplication Conflicting interpretations of pathogenicity 324088 rs56302025 GRCh37: 17:48262618-48262619
GRCh38: 17:50185257-50185258
14 COL5A1 NM_001278074.1(COL5A1):c.1332+4dup Duplication Uncertain significance 365711 rs886063674 GRCh37: 9:137623512-137623513
GRCh38: 9:134731666-134731667
15 COL1A1 NM_000088.3(COL1A1):c.*714C>T SNV Uncertain significance 324074 rs567392981 GRCh37: 17:48262149-48262149
GRCh38: 17:50184788-50184788
16 COL5A1 NM_001278074.1(COL5A1):c.1989G>C (p.Arg663Ser) SNV Uncertain significance 365714 rs774093862 GRCh37: 9:137653824-137653824
GRCh38: 9:134761978-134761978
17 COL5A1 NM_001278074.1(COL5A1):c.1830T>C (p.Gly610=) SNV Uncertain significance 365713 rs886063675 GRCh37: 9:137648613-137648613
GRCh38: 9:134756767-134756767
18 COL5A1 NM_001278074.1(COL5A1):c.365A>G (p.Glu122Gly) SNV Uncertain significance 365705 rs886063673 GRCh37: 9:137591842-137591842
GRCh38: 9:134699996-134699996
19 COL5A1 NM_001278074.1(COL5A1):c.3111G>A (p.Thr1037=) SNV Uncertain significance 365718 rs758336822 GRCh37: 9:137694838-137694838
GRCh38: 9:134802992-134802992
20 COL5A1 NM_001278074.1(COL5A1):c.3897C>T (p.Gly1299=) SNV Uncertain significance 365723 rs745918663 GRCh37: 9:137705873-137705873
GRCh38: 9:134814027-134814027
21 COL5A1 NM_001278074.1(COL5A1):c.787-9C>T SNV Uncertain significance 365708 rs751472921 GRCh37: 9:137620507-137620507
GRCh38: 9:134728661-134728661
22 COL5A1 NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) SNV Uncertain significance 365722 rs748000980 GRCh37: 9:137703382-137703382
GRCh38: 9:134811536-134811536
23 COL5A1 NM_001278074.1(COL5A1):c.1734C>T (p.Ser578=) SNV Uncertain significance 365712 rs148094039 GRCh37: 9:137645710-137645710
GRCh38: 9:134753864-134753864
24 COL1A1 NM_000088.3(COL1A1):c.*1007_*1008del Deletion Uncertain significance 324067 rs886053144 GRCh37: 17:48261855-48261856
GRCh38: 17:50184494-50184495
25 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*2175G>A SNV Uncertain significance 365788 rs781775180 GRCh37: 9:137736324-137736324
GRCh38: 9:134844478-134844478
26 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*235C>T SNV Uncertain significance 365745 rs886063681 GRCh37: 9:137734384-137734384
GRCh38: 9:134842538-134842538
27 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*1887G>A SNV Uncertain significance 365785 rs886063693 GRCh37: 9:137736036-137736036
GRCh38: 9:134844190-134844190
28 COL1A1 NM_000088.3(COL1A1):c.*1026_*1028del Deletion Uncertain significance 324065 rs751268781 GRCh37: 17:48261835-48261837
GRCh38: 17:50184474-50184476
29 COL5A1 NM_001278074.1(COL5A1):c.-357G>T SNV Uncertain significance 365698 rs886063669 GRCh37: 9:137533677-137533677
GRCh38: 9:134641831-134641831
30 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*700G>C SNV Uncertain significance 365757 rs750272409 GRCh37: 9:137734849-137734849
GRCh38: 9:134843003-134843003
31 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*2485G>A SNV Uncertain significance 365794 rs146334187 GRCh37: 9:137736634-137736634
GRCh38: 9:134844788-134844788
32 COL1A1 NM_000088.3(COL1A1):c.*255dup Duplication Uncertain significance 324084 rs886053153 GRCh37: 17:48262607-48262608
GRCh38: 17:50185246-50185247
33 COL1A1 NM_000088.3(COL1A1):c.*1030_*1031del Deletion Uncertain significance 324062 rs886053142 GRCh37: 17:48261832-48261833
GRCh38: 17:50184471-50184472
34 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*1734G>A SNV Uncertain significance 365777 rs886063688 GRCh37: 9:137735883-137735883
GRCh38: 9:134844037-134844037
35 COL1A1 NM_000088.3(COL1A1):c.*998_*999del Deletion Uncertain significance 324068 rs886053145 GRCh37: 17:48261864-48261865
GRCh38: 17:50184503-50184504
36 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*1845A>G SNV Uncertain significance 365782 rs553877631 GRCh37: 9:137735994-137735994
GRCh38: 9:134844148-134844148
37 COL1A1 NM_000088.3(COL1A1):c.*258dup Duplication Uncertain significance 324082 rs886053152 GRCh37: 17:48262604-48262605
GRCh38: 17:50185243-50185244
38 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5371-12C>T SNV Uncertain significance 365735 rs769740900 GRCh37: 9:137733991-137733991
GRCh38: 9:134842145-134842145
39 COL1A1 NM_000088.3(COL1A1):c.*242_*244dup Duplication Uncertain significance 324089 rs56302025 GRCh37: 17:48262618-48262619
GRCh38: 17:50185257-50185258
40 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*867_*868insATAGG Insertion Uncertain significance 365763 rs1554727637 GRCh37: 9:137735016-137735017
GRCh38: 9:134843170-134843171
41 COL1A1 NM_000088.3(COL1A1):c.*245_*246dup Duplication Uncertain significance 324086 rs886053155 GRCh37: 17:48262616-48262617
GRCh38: 17:50185255-50185256
42 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*68C>T SNV Uncertain significance 365740 rs886063679 GRCh37: 9:137734217-137734217
GRCh38: 9:134842371-134842371
43 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*173C>T SNV Uncertain significance 365743 rs886063680 GRCh37: 9:137734322-137734322
GRCh38: 9:134842476-134842476
44 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*1849_*1852ACAA[3] Microsatellite Uncertain significance 365783 rs886063691 GRCh37: 9:137735997-137735998
GRCh38: 9:134844151-134844152
45 COL1A1 NM_000088.3(COL1A1):c.*245del Deletion Uncertain significance 324087 rs886053156 GRCh37: 17:48262618-48262618
GRCh38: 17:50185257-50185257
46 COL5A1 NM_001278074.1(COL5A1):c.-287G>C SNV Uncertain significance 365699 rs886063670 GRCh37: 9:137533747-137533747
GRCh38: 9:134641901-134641901
47 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*589G>A SNV Uncertain significance 365752 rs886063682 GRCh37: 9:137734738-137734738
GRCh38: 9:134842892-134842892
48 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*2410C>G SNV Uncertain significance 365792 rs886063694 GRCh37: 9:137736559-137736559
GRCh38: 9:134844713-134844713
49 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.*2252T>C SNV Uncertain significance 365789 rs529530286 GRCh37: 9:137736401-137736401
GRCh38: 9:134844555-134844555
50 COL5A1 NM_001278074.1(COL5A1):c.-139G>T SNV Uncertain significance 365702 rs886063672 GRCh37: 9:137533895-137533895
GRCh38: 9:134642049-134642049

Expression for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

Pathways for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Pathways related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.64 COL1A1 ALB

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

Cellular components related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 COL1A1 ALB

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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