EDSARTH1
MCID: EHL075
MIFTS: 31

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 58 76
Eds Viia 58 60 76
Arthrochalasis Multiplex Congenita 58 76
Ehlers-Danlos Syndrome, Type 7a 30 6
Edsarth1 58 76
Eds7a 58 76
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 58
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 58
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 76
Ehlers-Danlos Syndrome, Arthrochalasia Type 74
Ehlers-Danlos Syndrome Arthrochalasic Type 76
Ehlers-Danlos Syndrome, Type Viia 13
Eds Vii, Mutant Procollagen Type 58
Eds Vii Mutant Procollagen Type 76
Ehlers-Danlos Syndrome Type 7a 60
Ehlers-Danlos Syndrome 7a 76
Eds Viib 74

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome type 7a
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ehlers-danlos syndrome, arthrochalasia type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 76 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 eds viia, is related to arthrochalasia ehlers-danlos syndrome and ehlers-danlos syndrome. 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 bone, and related phenotypes are muscle weakness and short stature

OMIM : 58 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 arthrochalasia ehlers-danlos syndrome 11.5
2 ehlers-danlos syndrome 10.0

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

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

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
4 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
5 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
6 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
7 malar flattening 33 HP:0000272
8 osteopenia 33 HP:0000938
9 muscular hypotonia 33 HP:0001252
10 scoliosis 33 HP:0002650
11 kyphosis 33 HP:0002808
12 joint laxity 33 HP:0001388
13 bruising susceptibility 33 HP:0000978
14 midface retrusion 33 HP:0011800
15 breech presentation 33 HP:0001623
16 generalized hypotonia 33 HP:0001290
17 delayed gross motor development 33 HP:0002194
18 increased susceptibility to fractures 33 HP:0002659
19 poor wound healing 33 HP:0001058
20 mild short stature 33 HP:0003502
21 soft skin 33 HP:0000977
22 premature osteoarthritis 33 HP:0003088
23 congenital bilateral hip dislocation 33 HP:0008780

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
joint laxity, severe
recurrent joint subluxation
premature osteoarthritis
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

Growth Height:
short stature, mild to moderate

Skeletal Spine:
scoliosis
kyphosis

Prenatal Manifestations Delivery:
breech presentation

Head And Neck Face:
midface hypoplasia

Skeletal Pelvis:
congenital bilateral hip dislocation

Clinical features from OMIM:

130060

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

47
# 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 30

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

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

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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

# Title Authors Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. ( 18409203 )
2008

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 872)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL5A2 NM_000393.4(COL5A2): c.3794A> G (p.Asp1265Gly) single nucleotide variant Uncertain significance rs200325397 GRCh37 Chromosome 2, 189904129: 189904129
2 COL5A2 NM_000393.4(COL5A2): c.3794A> G (p.Asp1265Gly) single nucleotide variant Uncertain significance rs200325397 GRCh38 Chromosome 2, 189039403: 189039403
3 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh37 Chromosome 9, 137582888: 137582888
4 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh38 Chromosome 9, 134691042: 134691042
5 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh37 Chromosome 17, 48272469: 48272469
6 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh38 Chromosome 17, 50195108: 50195108
7 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh37 Chromosome 17, 48270160: 48270160
8 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh38 Chromosome 17, 50192799: 50192799
9 COL1A2 NM_000089.3(COL1A2): c.87T> C (p.Thr29=) single nucleotide variant Benign rs1801182 GRCh37 Chromosome 7, 94027699: 94027699
10 COL1A2 NM_000089.3(COL1A2): c.87T> C (p.Thr29=) single nucleotide variant Benign rs1801182 GRCh38 Chromosome 7, 94398387: 94398387
11 COL1A2 NM_000089.3(COL1A2): c.82-12A> G single nucleotide variant Benign/Likely benign rs143689469 GRCh37 Chromosome 7, 94027682: 94027682
12 COL1A2 NM_000089.3(COL1A2): c.82-12A> G single nucleotide variant Benign/Likely benign rs143689469 GRCh38 Chromosome 7, 94398370: 94398370
13 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh37 Chromosome 9, 137694796: 137694796
14 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh38 Chromosome 9, 134802950: 134802950
15 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh37 Chromosome 2, 189916190: 189916190
16 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh38 Chromosome 2, 189051464: 189051464
17 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh37 Chromosome 17, 48263021: 48263021
18 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh38 Chromosome 17, 50185660: 50185660
19 COL5A1 NM_000093.4(COL5A1): c.805G> A (p.Glu269Lys) single nucleotide variant Uncertain significance rs761079177 GRCh37 Chromosome 9, 137620534: 137620534
20 COL5A1 NM_000093.4(COL5A1): c.805G> A (p.Glu269Lys) single nucleotide variant Uncertain significance rs761079177 GRCh38 Chromosome 9, 134728688: 134728688
21 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh37 Chromosome 9, 137623967: 137623967
22 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh38 Chromosome 9, 134732121: 134732121
23 COL5A1 NM_000093.4(COL5A1): c.*14C> T single nucleotide variant Benign/Likely benign rs12553247 GRCh37 Chromosome 9, 137734163: 137734163
24 COL5A1 NM_000093.4(COL5A1): c.*14C> T single nucleotide variant Benign/Likely benign rs12553247 GRCh38 Chromosome 9, 134842317: 134842317
25 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh38 Chromosome 2, 189035096: 189035096
26 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh37 Chromosome 2, 189899822: 189899822
27 COL5A2 NM_000393.4(COL5A2): c.4067A> G (p.Asp1356Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140952583 GRCh37 Chromosome 2, 189901388: 189901388
28 COL5A2 NM_000393.4(COL5A2): c.4067A> G (p.Asp1356Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140952583 GRCh38 Chromosome 2, 189036662: 189036662
29 COL5A2 NM_000393.4(COL5A2): c.3316C> T (p.Arg1106Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146789395 GRCh37 Chromosome 2, 189909952: 189909952
30 COL5A2 NM_000393.4(COL5A2): c.3316C> T (p.Arg1106Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146789395 GRCh38 Chromosome 2, 189045226: 189045226
31 COL5A2 NM_000393.4(COL5A2): c.3178C> T (p.Arg1060Trp) single nucleotide variant Uncertain significance rs374549843 GRCh37 Chromosome 2, 189912958: 189912958
32 COL5A2 NM_000393.4(COL5A2): c.3178C> T (p.Arg1060Trp) single nucleotide variant Uncertain significance rs374549843 GRCh38 Chromosome 2, 189048232: 189048232
33 COL5A2 NM_000393.4(COL5A2): c.2770-15delT deletion Benign/Likely benign rs577038385 GRCh38 Chromosome 2, 189051496: 189051496
34 COL5A2 NM_000393.4(COL5A2): c.2770-15delT deletion Benign/Likely benign rs577038385 GRCh37 Chromosome 2, 189916222: 189916222
35 COL5A2 NM_000393.4(COL5A2): c.2741C> T (p.Ala914Val) single nucleotide variant Uncertain significance rs201486858 GRCh37 Chromosome 2, 189916926: 189916926
36 COL5A2 NM_000393.4(COL5A2): c.2741C> T (p.Ala914Val) single nucleotide variant Uncertain significance rs201486858 GRCh38 Chromosome 2, 189052200: 189052200
37 COL5A2 NM_000393.4(COL5A2): c.2291C> G (p.Pro764Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150260969 GRCh37 Chromosome 2, 189922092: 189922092
38 COL5A2 NM_000393.4(COL5A2): c.2291C> G (p.Pro764Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150260969 GRCh38 Chromosome 2, 189057366: 189057366
39 COL5A2 NM_000393.4(COL5A2): c.1454C> A (p.Pro485Gln) single nucleotide variant Benign/Likely benign rs145281966 GRCh38 Chromosome 2, 189066730: 189066730
40 COL5A2 NM_000393.4(COL5A2): c.1454C> A (p.Pro485Gln) single nucleotide variant Benign/Likely benign rs145281966 GRCh37 Chromosome 2, 189931456: 189931456
41 COL5A2 NM_000393.3(COL5A2): c.1301C> T (p.Thr434Met) single nucleotide variant Benign/Likely benign rs145850743 GRCh38 Chromosome 2, 189068227: 189068227
42 COL5A2 NM_000393.3(COL5A2): c.1301C> T (p.Thr434Met) single nucleotide variant Benign/Likely benign rs145850743 GRCh37 Chromosome 2, 189932953: 189932953
43 COL5A2 NM_000393.3(COL5A2): c.1292A> G (p.Lys431Arg) single nucleotide variant Uncertain significance rs144602736 GRCh37 Chromosome 2, 189932962: 189932962
44 COL5A2 NM_000393.3(COL5A2): c.1292A> G (p.Lys431Arg) single nucleotide variant Uncertain significance rs144602736 GRCh38 Chromosome 2, 189068236: 189068236
45 COL5A2 NM_000393.4(COL5A2): c.263C> A (p.Pro88His) single nucleotide variant Uncertain significance rs149877855 GRCh37 Chromosome 2, 189975010: 189975010
46 COL5A2 NM_000393.4(COL5A2): c.263C> A (p.Pro88His) single nucleotide variant Uncertain significance rs149877855 GRCh38 Chromosome 2, 189110284: 189110284
47 COL5A2 NM_000393.3(COL5A2): c.75A> G (p.Lys25=) single nucleotide variant Conflicting interpretations of pathogenicity rs549894501 GRCh37 Chromosome 2, 190044256: 190044256
48 COL5A2 NM_000393.3(COL5A2): c.75A> G (p.Lys25=) single nucleotide variant Conflicting interpretations of pathogenicity rs549894501 GRCh38 Chromosome 2, 189179530: 189179530
49 COL5A2 NM_000393.4(COL5A2): c.33C> T (p.Leu11=) single nucleotide variant Benign/Likely benign rs140108893 GRCh37 Chromosome 2, 190044298: 190044298
50 COL5A2 NM_000393.4(COL5A2): c.33C> T (p.Leu11=) single nucleotide variant Benign/Likely benign rs140108893 GRCh38 Chromosome 2, 189179572: 189179572

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 ALB COL1A1

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 ALB COL1A1

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 ALB COL1A1

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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