EDSARTH1
MCID: EHL075
MIFTS: 35

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 74
Arthrochalasis Multiplex Congenita 57 74
Ehlers-Danlos Syndrome, Type 7a 29 6
Edsarth1 57 74
Eds Viia 57 74
Eds7a 57 74
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 57
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 57
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 74
Ehlers-Danlos Syndrome, Arthrochalasia Type 72
Ehlers-Danlos Syndrome Arthrochalasic Type 74
Ehlers-Danlos Syndrome, Type Viia 13
Eds Vii, Mutant Procollagen Type 57
Eds Vii Mutant Procollagen Type 74
Ehlers-Danlos Syndrome 7a 74
Eds Viib 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ehlers-danlos syndrome, arthrochalasia type, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D004535
UMLS 72 C0268345 C1851801

Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 74 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 obsolete: ehlers-danlos syndrome type 7a and beukes hip dysplasia. 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 skin, and related phenotypes are malar flattening and osteopenia

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)

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

Diseases in the Arthrochalasia Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 obsolete: ehlers-danlos syndrome type 7a 11.8
2 beukes hip dysplasia 10.3
3 osteogenesis imperfecta, type ii 10.3
4 ehlers-danlos syndrome, cardiac valvular type 10.3
5 ehlers-danlos syndrome, arthrochalasia type, 2 10.0
6 ehlers-danlos syndrome 10.0
7 arthrochalasia ehlers-danlos syndrome 10.0
8 obsolete: ehlers-danlos syndrome type 7b 10.0

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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 osteopenia 32 HP:0000938
3 muscular hypotonia 32 HP:0001252
4 scoliosis 32 HP:0002650
5 kyphosis 32 HP:0002808
6 generalized hypotonia 32 HP:0001290
7 joint laxity 32 HP:0001388
8 bruising susceptibility 32 HP:0000978
9 midface retrusion 32 HP:0011800
10 hyperextensible skin 32 HP:0000974
11 breech presentation 32 HP:0001623
12 delayed gross motor development 32 HP:0002194
13 increased susceptibility to fractures 32 HP:0002659
14 poor wound healing 32 HP:0001058
15 mild short stature 32 HP:0003502
16 atrophic scars 32 HP:0001075
17 soft skin 32 HP:0000977
18 premature osteoarthritis 32 HP:0003088
19 congenital bilateral hip dislocation 32 HP:0008780

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
premature osteoarthritis
joint laxity, severe
recurrent joint subluxation
fractures

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

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Head And Neck Face:
midface hypoplasia

Skeletal Spine:
scoliosis
kyphosis

Prenatal Manifestations Delivery:
breech presentation

Skeletal Pelvis:
congenital bilateral hip dislocation

Growth Height:
short stature, mild to moderate

Clinical features from OMIM:

130060

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 ALB COL1A1

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:

41
Skin

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

(show all 16)
# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 38 8 71
18409203 2008
2
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 8 71
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. 8 71
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. 8 71
3082886 1986
5
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 8 71
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. 8
9295084 1997
7
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 71
8347685 1993
8
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. 8
1303238 1992
9
Point substitutions in albumin genetic variants from Asia. 71
2404284 1990
10
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII. 8
3019133 1986
11
Molecular pathology in inherited disorders of collagen metabolism. 8
7042525 1982
12
Arthrochalasis multiplex congenita; congenital flaccidity of the joints. 8
13539092 1958
13
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. 38
23762718 2013
14
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. 38
16407265 2006
15
[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects]. 38
8526413 1995
16
The Ehlers-Danlos syndromes. 38
8217561 1993

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 445)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1): c.1821+1G> A single nucleotide variant Pathogenic rs66555264 17:48270354-48270354 17:50192993-50192993
2 COL1A1 NM_000088.3(COL1A1): c.1299+1G> A single nucleotide variant Pathogenic rs66490707 17:48272592-48272592 17:50195231-50195231
3 COL1A1 NM_000088.3(COL1A1): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs72648326 17:48272649-48272649 17:50195288-50195288
4 COL1A1 NM_000088.3(COL1A1): c.2362G> A (p.Gly788Ser) single nucleotide variant Pathogenic rs67879854 17:48267939-48267939 17:50190578-50190578
5 COL1A1 NM_000088.3(COL1A1): c.543G> A (p.Met181Ile) single nucleotide variant Pathogenic rs72667022 17:48275794-48275794 17:50198433-50198433
6 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 17:48273524-48273524 17:50196163-50196163
7 COL1A1 NM_000088.3(COL1A1): c.472-1G> A single nucleotide variant Pathogenic 17:48275866-48275866 17:50198505-50198505
8 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 17:48266269-48266269 17:50188908-50188908
9 COL1A1 NM_000088.3(COL1A1): c.472-2A> T single nucleotide variant Pathogenic 17:48275867-48275867 17:50198506-50198506
10 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 4:74270115-74270115 4:73404398-73404398
11 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 17:48269187-48269187 17:50191826-50191826
12 COL1A1 NM_000088.3(COL1A1): c.985G> C (p.Gly329Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1555574303 17:48273533-48273533 17:50196172-50196172
13 COL1A1 NM_000088.3(COL1A1): c.334-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs115997082 17:48276819-48276819 17:50199458-50199458
14 COL1A1 NM_000088.3(COL1A1): c.*243_*244dup duplication Conflicting interpretations of pathogenicity rs56302025 17:48262619-48262620 17:50185258-50185259
15 COL1A1 NM_000088.3(COL1A1): c.1983+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201091992 17:48269827-48269827 17:50192466-50192466
16 COL5A1 NM_000093.4(COL5A1): c.3591C> T (p.Asp1197=) single nucleotide variant Conflicting interpretations of pathogenicity rs370349155 9:137703346-137703346 9:134811500-134811500
17 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 17:48267238-48267238 17:50189877-50189877
18 COL5A1 NM_000093.4(COL5A1): c.787-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs150200872 9:137620501-137620501 9:134728655-134728655
19 COL5A1 NM_000093.4(COL5A1): c.924+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200595318 9:137620667-137620667 9:134728821-134728821
20 COL5A1 NM_000093.4(COL5A1): c.1224G> C (p.Thr408=) single nucleotide variant Conflicting interpretations of pathogenicity rs139406076 9:137623401-137623401 9:134731555-134731555
21 COL5A2 NM_000393.5(COL5A2): c.4392T> C (p.Tyr1464=) single nucleotide variant Conflicting interpretations of pathogenicity rs142544320 2:189898904-189898904 2:189034178-189034178
22 COL5A2 NM_000393.5(COL5A2): c.322+8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs372227642 2:189974943-189974943 2:189110217-189110217
23 COL5A2 NM_000393.5(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 2:189907869-189907869 2:189043143-189043143
24 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 17:48270160-48270160 17:50192799-50192799
25 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 9:137694796-137694796 9:134802950-134802950
26 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 9:137623967-137623967 9:134732121-134732121
27 COL5A2 NM_000393.5(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 2:189899822-189899822 2:189035096-189035096
28 COL5A2 NM_000393.5(COL5A2): c.4067A> G (p.Asp1356Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140952583 2:189901388-189901388 2:189036662-189036662
29 COL5A2 NM_000393.5(COL5A2): c.3316C> T (p.Arg1106Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146789395 2:189909952-189909952 2:189045226-189045226
30 COL5A2 NM_000393.5(COL5A2): c.2291C> G (p.Pro764Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150260969 2:189922092-189922092 2:189057366-189057366
31 COL5A2 NM_000393.5(COL5A2): c.75A> G (p.Lys25=) single nucleotide variant Conflicting interpretations of pathogenicity rs549894501 2:190044256-190044256 2:189179530-189179530
32 COL5A1 NM_000093.4(COL5A1): c.126C> T (p.Leu42=) single nucleotide variant Conflicting interpretations of pathogenicity rs149369116 9:137582774-137582774 9:134690928-134690928
33 COL5A1 NM_000093.4(COL5A1): c.804C> T (p.Gly268=) single nucleotide variant Conflicting interpretations of pathogenicity rs147729713 9:137620533-137620533 9:134728687-134728687
34 COL5A1 NM_000093.4(COL5A1): c.924+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199836060 9:137620666-137620666 9:134728820-134728820
35 COL1A1 NM_000088.3(COL1A1): c.4179C> T (p.Ser1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs1800219 17:48263208-48263208 17:50185847-50185847
36 COL5A1 NM_000093.4(COL5A1): c.3345G> A (p.Pro1115=) single nucleotide variant Conflicting interpretations of pathogenicity rs764683617 9:137698121-137698121 9:134806275-134806275
37 COL5A1 NM_000093.4(COL5A1): c.3983C> G (p.Pro1328Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140797509 9:137706719-137706719 9:134814873-134814873
38 COL5A1 NM_000093.4(COL5A1): c.5370+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764644830 9:137727061-137727061 9:134835215-134835215
39 COL5A1 NM_000093.4(COL5A1): c.2493C> T (p.Ile831=) single nucleotide variant Conflicting interpretations of pathogenicity rs199630108 9:137676843-137676843 9:134784997-134784997
40 COL5A1 NM_000093.4(COL5A1): c.1350C> T (p.Gly450=) single nucleotide variant Conflicting interpretations of pathogenicity rs576332528 9:137623934-137623934 9:134732088-134732088
41 COL5A1 NM_000093.4(COL5A1): c.2096C> T (p.Thr699Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142313124 9:137658307-137658307 9:134766461-134766461
42 COL5A2 NM_000393.5(COL5A2): c.3201+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368713290 2:189912921-189912921 2:189048195-189048195
43 COL5A2 NM_000393.5(COL5A2): c.403-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369733690 2:189962059-189962059 2:189097333-189097333
44 COL5A2 NM_000393.4(COL5A2): c.961-3delT deletion Conflicting interpretations of pathogenicity rs542134887 2:189943836-189943836 2:189079110-189079110
45 COL5A2 NM_000393.5(COL5A2): c.906+10A> T single nucleotide variant Conflicting interpretations of pathogenicity rs776578452 2:189945706-189945706 2:189080980-189080980
46 COL5A2 NM_000393.5(COL5A2): c.2544C> T (p.Ala848=) single nucleotide variant Conflicting interpretations of pathogenicity rs370774253 2:189918159-189918159 2:189053433-189053433
47 COL5A2 NM_000393.5(COL5A2): c.2423C> T (p.Pro808Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs575864379 2:189918907-189918907 2:189054181-189054181
48 COL5A2 NM_000393.5(COL5A2): c.1923+8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs191193125 2:189927728-189927728 2:189063002-189063002
49 COL1A2 NM_000089.3(COL1A2): c.2025+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368837694 7:94047873-94047873 7:94418561-94418561
50 COL1A2 NM_000089.3(COL1A2): c.2168A> G (p.Asn723Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs189374343 7:94049737-94049737 7:94420425-94420425

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

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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