EDS7A
MCID: EHL075
MIFTS: 33

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 (EDS7A)

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare 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
Eds Viia 57 59 75
Arthrochalasis Multiplex Congenita 57 75
Ehlers-Danlos Syndrome, Type 7a 29 6
Eds7a 57 75
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 57
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 57
Ehlers-Danlos Syndrome Type Vii Autosomal Dominant 75
Ehlers-Danlos Syndrome, Arthrochalasia Type 73
Ehlers-Danlos Syndrome Arthrochalasia Type 75
Ehlers-Danlos Syndrome Arthrochalasic Type 75
Ehlers-Danlos Syndrome, Type Viia 13
Ehlers-Danlos Syndrome, Type Viib 40
Eds Vii, Mutant Procollagen Type 57
Eds Vii Mutant Procollagen Type 75
Ehlers-Danlos Syndrome, Type 7b 29
Ehlers-Danlos Syndrome Type 7a 59
Ehlers-Danlos Syndrome 7a 75
Ehlers-Danlos Syndrome 7b 75
Edsarth1 57
Eds Viib 73
Eds7b 75

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome type 7a
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome 7A: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations.

MalaCards based summary : Ehlers-Danlos Syndrome, Arthrochalasia Type, 1, also known as eds viia, is related to ehlers-danlos syndrome, arthrochalasia type, 2 and ehlers-danlos syndrome type 7b. 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 thin skin and hyperextensible skin

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 ehlers-danlos syndrome, arthrochalasia type, 2 12.7
2 ehlers-danlos syndrome type 7b 12.3
3 ehlers-danlos syndrome, arthrochalasis type 11.5
4 ehlers-danlos syndrome, dermatosparaxis type 11.4
5 arthrochalasia ehlers-danlos syndrome 11.3
6 ehlers-danlos syndrome 9.8
7 osteoporosis 9.0 ALB COL1A1

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

Symptoms via clinical synopsis from OMIM:

57
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

Prenatal Manifestations Delivery:
breech presentation

Growth Height:
short stature, mild to moderate

Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Head And Neck Face:
midface hypoplasia

Skeletal Pelvis:
congenital bilateral hip dislocation


Clinical features from OMIM:

130060

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
3 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
7 malar flattening 32 HP:0000272
8 osteopenia 32 HP:0000938
9 soft skin 32 HP:0000977
10 bruising susceptibility 32 HP:0000978
11 poor wound healing 32 HP:0001058
12 muscular hypotonia 32 HP:0001252
13 generalized hypotonia 32 HP:0001290
14 joint laxity 32 HP:0001388
15 breech presentation 32 HP:0001623
16 delayed gross motor development 32 HP:0002194
17 scoliosis 32 HP:0002650
18 increased susceptibility to fractures 32 HP:0002659
19 kyphosis 32 HP:0002808
20 premature osteoarthritis 32 HP:0003088
21 mild short stature 32 HP:0003502
22 congenital bilateral hip dislocation 32 HP:0008780
23 midface retrusion 32 HP:0011800

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
2 Ehlers-Danlos Syndrome, Type 7b 29

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

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

41
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 712)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NG_007400.1: g.8207G> A single nucleotide variant Pathogenic rs72667022 GRCh37 Chromosome 17, 48275794: 48275794
2 COL1A1 NG_007400.1: g.8207G> A single nucleotide variant Pathogenic rs72667022 GRCh38 Chromosome 17, 50198433: 50198433
3 COL1A1 COL1A1, IVS5AS, G-A, -1 single nucleotide variant Pathogenic
4 COL1A1 COL1A1, IVS5AS, A-T, -2 single nucleotide variant Pathogenic
5 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh37 Chromosome 4, 74270115: 74270115
6 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh38 Chromosome 4, 73404398: 73404398
7 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh37 Chromosome 2, 189907869: 189907869
8 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh38 Chromosome 2, 189043143: 189043143
9 COL5A2 NM_000393.4(COL5A2): c.3794A> G (p.Asp1265Gly) single nucleotide variant Uncertain significance rs200325397 GRCh37 Chromosome 2, 189904129: 189904129
10 COL5A2 NM_000393.4(COL5A2): c.3794A> G (p.Asp1265Gly) single nucleotide variant Uncertain significance rs200325397 GRCh38 Chromosome 2, 189039403: 189039403
11 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh37 Chromosome 9, 137582888: 137582888
12 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh38 Chromosome 9, 134691042: 134691042
13 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh37 Chromosome 17, 48272469: 48272469
14 COL1A1 NM_000088.3(COL1A1): c.1300-8C> T single nucleotide variant Benign/Likely benign rs41317361 GRCh38 Chromosome 17, 50195108: 50195108
15 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh37 Chromosome 17, 48270160: 48270160
16 COL1A1 NM_000088.3(COL1A1): c.1873G> A (p.Ala625Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149561221 GRCh38 Chromosome 17, 50192799: 50192799
17 COL1A2 NM_000089.3(COL1A2): c.87T> C (p.Thr29=) single nucleotide variant Benign rs1801182 GRCh37 Chromosome 7, 94027699: 94027699
18 COL1A2 NM_000089.3(COL1A2): c.87T> C (p.Thr29=) single nucleotide variant Benign rs1801182 GRCh38 Chromosome 7, 94398387: 94398387
19 COL1A2 NM_000089.3(COL1A2): c.82-12A> G single nucleotide variant Benign/Likely benign rs143689469 GRCh37 Chromosome 7, 94027682: 94027682
20 COL1A2 NM_000089.3(COL1A2): c.82-12A> G single nucleotide variant Benign/Likely benign rs143689469 GRCh38 Chromosome 7, 94398370: 94398370
21 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh37 Chromosome 9, 137694796: 137694796
22 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh38 Chromosome 9, 134802950: 134802950
23 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh37 Chromosome 2, 189916190: 189916190
24 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh38 Chromosome 2, 189051464: 189051464
25 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh37 Chromosome 17, 48263021: 48263021
26 COL1A1 NM_000088.3(COL1A1): c.4249-12G> A single nucleotide variant Benign/Likely benign rs2249492 GRCh38 Chromosome 17, 50185660: 50185660
27 COL5A1 NM_000093.4(COL5A1): c.805G> A (p.Glu269Lys) single nucleotide variant Uncertain significance rs761079177 GRCh37 Chromosome 9, 137620534: 137620534
28 COL5A1 NM_000093.4(COL5A1): c.805G> A (p.Glu269Lys) single nucleotide variant Uncertain significance rs761079177 GRCh38 Chromosome 9, 134728688: 134728688
29 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh37 Chromosome 9, 137623967: 137623967
30 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh38 Chromosome 9, 134732121: 134732121
31 COL5A1 NM_000093.4(COL5A1): c.*14C> T single nucleotide variant Benign/Likely benign rs12553247 GRCh37 Chromosome 9, 137734163: 137734163
32 COL5A1 NM_000093.4(COL5A1): c.*14C> T single nucleotide variant Benign/Likely benign rs12553247 GRCh38 Chromosome 9, 134842317: 134842317
33 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh38 Chromosome 2, 189035096: 189035096
34 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh37 Chromosome 2, 189899822: 189899822
35 COL5A2 NM_000393.4(COL5A2): c.4067A> G (p.Asp1356Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140952583 GRCh37 Chromosome 2, 189901388: 189901388
36 COL5A2 NM_000393.4(COL5A2): c.4067A> G (p.Asp1356Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140952583 GRCh38 Chromosome 2, 189036662: 189036662
37 COL5A2 NM_000393.4(COL5A2): c.3316C> T (p.Arg1106Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146789395 GRCh37 Chromosome 2, 189909952: 189909952
38 COL5A2 NM_000393.4(COL5A2): c.3316C> T (p.Arg1106Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146789395 GRCh38 Chromosome 2, 189045226: 189045226
39 COL5A2 NM_000393.4(COL5A2): c.3178C> T (p.Arg1060Trp) single nucleotide variant Uncertain significance rs374549843 GRCh37 Chromosome 2, 189912958: 189912958
40 COL5A2 NM_000393.4(COL5A2): c.3178C> T (p.Arg1060Trp) single nucleotide variant Uncertain significance rs374549843 GRCh38 Chromosome 2, 189048232: 189048232
41 COL5A2 NM_000393.4(COL5A2): c.2770-15delT deletion Benign/Likely benign rs577038385 GRCh38 Chromosome 2, 189051496: 189051496
42 COL5A2 NM_000393.4(COL5A2): c.2770-15delT deletion Benign/Likely benign rs577038385 GRCh37 Chromosome 2, 189916222: 189916222
43 COL5A2 NM_000393.4(COL5A2): c.2741C> T (p.Ala914Val) single nucleotide variant Uncertain significance rs201486858 GRCh37 Chromosome 2, 189916926: 189916926
44 COL5A2 NM_000393.4(COL5A2): c.2741C> T (p.Ala914Val) single nucleotide variant Uncertain significance rs201486858 GRCh38 Chromosome 2, 189052200: 189052200
45 COL5A2 NM_000393.4(COL5A2): c.2291C> G (p.Pro764Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150260969 GRCh37 Chromosome 2, 189922092: 189922092
46 COL5A2 NM_000393.4(COL5A2): c.2291C> G (p.Pro764Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150260969 GRCh38 Chromosome 2, 189057366: 189057366
47 COL5A2 NM_000393.4(COL5A2): c.1454C> A (p.Pro485Gln) single nucleotide variant Benign/Likely benign rs145281966 GRCh38 Chromosome 2, 189066730: 189066730
48 COL5A2 NM_000393.4(COL5A2): c.1454C> A (p.Pro485Gln) single nucleotide variant Benign/Likely benign rs145281966 GRCh37 Chromosome 2, 189931456: 189931456
49 COL5A2 NM_000393.4(COL5A2): c.1301C> T (p.Thr434Met) single nucleotide variant Benign/Likely benign rs145850743 GRCh38 Chromosome 2, 189068227: 189068227
50 COL5A2 NM_000393.4(COL5A2): c.1301C> T (p.Thr434Met) single nucleotide variant Benign/Likely benign rs145850743 GRCh37 Chromosome 2, 189932953: 189932953

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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