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 57 75
Eds Viia 57 59 75
Arthrochalasis Multiplex Congenita 57 75
Ehlers-Danlos Syndrome, Type 7a 29 6
Edsarth1 57 75
Eds7a 57 75
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 57
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 57
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 75
Ehlers-Danlos Syndrome, Arthrochalasia Type 73
Ehlers-Danlos Syndrome Arthrochalasic Type 75
Ehlers-Danlos Syndrome, Type Viia 13
Eds Vii, Mutant Procollagen Type 57
Eds Vii Mutant Procollagen Type 75
Ehlers-Danlos Syndrome Type 7a 59
Ehlers-Danlos Syndrome 7a 75
Eds Viib 73

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, 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 : 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 arthrochalasia ehlers-danlos syndrome 11.4
2 ehlers-danlos syndrome 10.0
3 osteoporosis 9.7 COL1A1 ALB

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

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

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

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

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, 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 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 NM_000088.3(COL1A1): c.472-1G> A single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
4 COL1A1 NM_000088.3(COL1A1): c.472-1G> A single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
5 COL1A1 NM_000088.3(COL1A1): c.472-2A> T single nucleotide variant Pathogenic rs72667019 GRCh37 Chromosome 17, 48275867: 48275867
6 COL1A1 NM_000088.3(COL1A1): c.472-2A> T single nucleotide variant Pathogenic rs72667019 GRCh38 Chromosome 17, 50198506: 50198506
7 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh37 Chromosome 4, 74270115: 74270115
8 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh38 Chromosome 4, 73404398: 73404398
9 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139955975 GRCh37 Chromosome 17, 48273298: 48273298
10 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139955975 GRCh38 Chromosome 17, 50195937: 50195937
11 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh37 Chromosome 17, 48267238: 48267238
12 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh38 Chromosome 17, 50189877: 50189877
13 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh37 Chromosome 17, 48263786: 48263786
14 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh38 Chromosome 17, 50186425: 50186425
15 COL1A2 NM_000089.3(COL1A2): c.1036-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs114322680 GRCh37 Chromosome 7, 94039540: 94039540
16 COL1A2 NM_000089.3(COL1A2): c.1036-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs114322680 GRCh38 Chromosome 7, 94410228: 94410228
17 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh37 Chromosome 7, 94055755: 94055755
18 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh38 Chromosome 7, 94426443: 94426443
19 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh37 Chromosome 7, 94057007: 94057007
20 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh38 Chromosome 7, 94427695: 94427695
21 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh37 Chromosome 7, 94039046: 94039046
22 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh38 Chromosome 7, 94409734: 94409734
23 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh37 Chromosome 9, 137642654: 137642654
24 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh38 Chromosome 9, 134750808: 134750808
25 COL5A1 NM_000093.4(COL5A1): c.1566G> A (p.Leu522=) single nucleotide variant Benign/Likely benign rs61737941 GRCh37 Chromosome 9, 137642459: 137642459
26 COL5A1 NM_000093.4(COL5A1): c.1566G> A (p.Leu522=) single nucleotide variant Benign/Likely benign rs61737941 GRCh38 Chromosome 9, 134750613: 134750613
27 COL5A1 NM_000093.4(COL5A1): c.1569+15C> T single nucleotide variant Benign/Likely benign rs62574081 GRCh37 Chromosome 9, 137642477: 137642477
28 COL5A1 NM_000093.4(COL5A1): c.1569+15C> T single nucleotide variant Benign/Likely benign rs62574081 GRCh38 Chromosome 9, 134750631: 134750631
29 COL5A1 NM_000093.4(COL5A1): c.1935+8T> G single nucleotide variant Benign/Likely benign rs79195626 GRCh37 Chromosome 9, 137650150: 137650150
30 COL5A1 NM_000093.4(COL5A1): c.1935+8T> G single nucleotide variant Benign/Likely benign rs79195626 GRCh38 Chromosome 9, 134758304: 134758304
31 COL5A1 NM_000093.4(COL5A1): c.2724G> A (p.Pro908=) single nucleotide variant Benign/Likely benign rs41310207 GRCh37 Chromosome 9, 137686951: 137686951
32 COL5A1 NM_000093.4(COL5A1): c.2724G> A (p.Pro908=) single nucleotide variant Benign/Likely benign rs41310207 GRCh38 Chromosome 9, 134795105: 134795105
33 COL5A1 NM_000093.4(COL5A1): c.2745+15A> T single nucleotide variant Benign/Likely benign rs79481146 GRCh37 Chromosome 9, 137686987: 137686987
34 COL5A1 NM_000093.4(COL5A1): c.2745+15A> T single nucleotide variant Benign/Likely benign rs79481146 GRCh38 Chromosome 9, 134795141: 134795141
35 COL5A1 NM_000093.4(COL5A1): c.2799+4T> C single nucleotide variant Benign/Likely benign rs75815945 GRCh37 Chromosome 9, 137687165: 137687165
36 COL5A1 NM_000093.4(COL5A1): c.2799+4T> C single nucleotide variant Benign/Likely benign rs75815945 GRCh38 Chromosome 9, 134795319: 134795319
37 COL5A1 NM_000093.4(COL5A1): c.2852A> G (p.Asn951Ser) single nucleotide variant Benign/Likely benign rs61736966 GRCh37 Chromosome 9, 137688701: 137688701
38 COL5A1 NM_000093.4(COL5A1): c.2852A> G (p.Asn951Ser) single nucleotide variant Benign/Likely benign rs61736966 GRCh38 Chromosome 9, 134796855: 134796855
39 COL5A1 NM_000093.4(COL5A1): c.2892C> T (p.Gly964=) single nucleotide variant Benign/Likely benign rs78511105 GRCh37 Chromosome 9, 137688741: 137688741
40 COL5A1 NM_000093.4(COL5A1): c.2892C> T (p.Gly964=) single nucleotide variant Benign/Likely benign rs78511105 GRCh38 Chromosome 9, 134796895: 134796895
41 COL5A1 NM_000093.4(COL5A1): c.2952+11A> T single nucleotide variant Benign rs4240707 GRCh37 Chromosome 9, 137690318: 137690318
42 COL5A1 NM_000093.4(COL5A1): c.2952+11A> T single nucleotide variant Benign rs4240707 GRCh38 Chromosome 9, 134798472: 134798472
43 COL5A1 NM_000093.4(COL5A1): c.3591C> T (p.Asp1197=) single nucleotide variant Conflicting interpretations of pathogenicity rs370349155 GRCh37 Chromosome 9, 137703346: 137703346
44 COL5A1 NM_000093.4(COL5A1): c.3591C> T (p.Asp1197=) single nucleotide variant Conflicting interpretations of pathogenicity rs370349155 GRCh38 Chromosome 9, 134811500: 134811500
45 COL5A1 NM_000093.4(COL5A1): c.4065C> T (p.Pro1355=) single nucleotide variant Benign/Likely benign rs61737906 GRCh37 Chromosome 9, 137707472: 137707472
46 COL5A1 NM_000093.4(COL5A1): c.4065C> T (p.Pro1355=) single nucleotide variant Benign/Likely benign rs61737906 GRCh38 Chromosome 9, 134815626: 134815626
47 COL5A1 NM_000093.4(COL5A1): c.4122G> A (p.Thr1374=) single nucleotide variant Benign/Likely benign rs3827848 GRCh37 Chromosome 9, 137707834: 137707834
48 COL5A1 NM_000093.4(COL5A1): c.4122G> A (p.Thr1374=) single nucleotide variant Benign/Likely benign rs3827848 GRCh38 Chromosome 9, 134815988: 134815988
49 COL5A1 NM_000093.4(COL5A1): c.4135C> T (p.Pro1379Ser) single nucleotide variant Benign/Likely benign rs61739195 GRCh37 Chromosome 9, 137708884: 137708884
50 COL5A1 NM_000093.4(COL5A1): c.4135C> T (p.Pro1379Ser) single nucleotide variant Benign/Likely benign rs61739195 GRCh38 Chromosome 9, 134817038: 134817038

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

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10 dbSNP
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17 ExPASy
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34 ICD10 via Orphanet
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