EDSARTH1
MCID: EHL075
MIFTS: 32

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
Arthrochalasis Multiplex Congenita 58 76
Ehlers-Danlos Syndrome, Type 7a 30 6
Edsarth1 58 76
Eds Viia 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 7a 76
Eds Viib 74

Characteristics:

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 arthrochalasis multiplex congenita, is related to ehlers-danlos syndrome type 7a and arthrochalasia 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 malar flattening and osteopenia

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 ehlers-danlos syndrome type 7a 11.6
2 arthrochalasia ehlers-danlos syndrome 11.6
3 ehlers-danlos syndrome, cardiac valvular type 10.3
4 brittle bone disorder 10.3
5 ehlers-danlos syndrome 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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 osteopenia 33 HP:0000938
3 muscular hypotonia 33 HP:0001252
4 scoliosis 33 HP:0002650
5 kyphosis 33 HP:0002808
6 joint laxity 33 HP:0001388
7 bruising susceptibility 33 HP:0000978
8 midface retrusion 33 HP:0011800
9 hyperextensible skin 33 HP:0000974
10 breech presentation 33 HP:0001623
11 generalized hypotonia 33 HP:0001290
12 delayed gross motor development 33 HP:0002194
13 increased susceptibility to fractures 33 HP:0002659
14 poor wound healing 33 HP:0001058
15 mild short stature 33 HP:0003502
16 atrophic scars 33 HP:0001075
17 soft skin 33 HP:0000977
18 premature osteoarthritis 33 HP:0003088
19 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
2
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. ( 1867198 )
1991
3
Point substitutions in albumin genetic variants from Asia. ( 2404284 )
1990
4
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. ( 2767050 )
1989
5
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. ( 3082886 )
1986
6
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. ( 6462220 )
1984
7
A circulating variant of human proalbumin. ( 683332 )
1978

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 892)
# 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.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
4 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
5 COL1A1 NM_000088.3(COL1A1): c.472-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48275866: 48275866
6 COL1A1 NM_000088.3(COL1A1): c.472-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 50198505: 50198505
7 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh37 Chromosome 17, 48266269: 48266269
8 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh38 Chromosome 17, 50188908: 50188908
9 COL1A1 NM_000088.3(COL1A1): c.472-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48275867: 48275867
10 COL1A1 NM_000088.3(COL1A1): c.472-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 50198506: 50198506
11 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh37 Chromosome 4, 74270115: 74270115
12 ALB NM_000477.5(ALB): c.71G> A (p.Arg24Gln) single nucleotide variant Pathogenic rs74821926 GRCh38 Chromosome 4, 73404398: 73404398
13 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Uncertain significance rs139955975 GRCh37 Chromosome 17, 48273298: 48273298
14 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Uncertain significance rs139955975 GRCh38 Chromosome 17, 50195937: 50195937
15 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh37 Chromosome 17, 48267238: 48267238
16 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh38 Chromosome 17, 50189877: 50189877
17 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh37 Chromosome 17, 48263786: 48263786
18 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh38 Chromosome 17, 50186425: 50186425
19 COL1A2 NM_000089.3(COL1A2): c.1036-14G> A single nucleotide variant Benign/Likely benign rs114322680 GRCh37 Chromosome 7, 94039540: 94039540
20 COL1A2 NM_000089.3(COL1A2): c.1036-14G> A single nucleotide variant Benign/Likely benign rs114322680 GRCh38 Chromosome 7, 94410228: 94410228
21 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh37 Chromosome 7, 94055755: 94055755
22 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh38 Chromosome 7, 94426443: 94426443
23 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh37 Chromosome 7, 94057007: 94057007
24 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh38 Chromosome 7, 94427695: 94427695
25 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh37 Chromosome 7, 94039046: 94039046
26 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh38 Chromosome 7, 94409734: 94409734
27 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh37 Chromosome 9, 137642654: 137642654
28 COL5A1 NM_000093.4(COL5A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61735045 GRCh38 Chromosome 9, 134750808: 134750808
29 COL5A1 NM_000093.4(COL5A1): c.1566G> A (p.Leu522=) single nucleotide variant Benign/Likely benign rs61737941 GRCh37 Chromosome 9, 137642459: 137642459
30 COL5A1 NM_000093.4(COL5A1): c.1566G> A (p.Leu522=) single nucleotide variant Benign/Likely benign rs61737941 GRCh38 Chromosome 9, 134750613: 134750613
31 COL5A1 NM_000093.4(COL5A1): c.1569+15C> T single nucleotide variant Benign/Likely benign rs62574081 GRCh37 Chromosome 9, 137642477: 137642477
32 COL5A1 NM_000093.4(COL5A1): c.1569+15C> T single nucleotide variant Benign/Likely benign rs62574081 GRCh38 Chromosome 9, 134750631: 134750631
33 COL5A1 NM_000093.4(COL5A1): c.1935+8T> G single nucleotide variant Benign/Likely benign rs79195626 GRCh37 Chromosome 9, 137650150: 137650150
34 COL5A1 NM_000093.4(COL5A1): c.1935+8T> G single nucleotide variant Benign/Likely benign rs79195626 GRCh38 Chromosome 9, 134758304: 134758304
35 COL5A1 NM_000093.4(COL5A1): c.2724G> A (p.Pro908=) single nucleotide variant Benign/Likely benign rs41310207 GRCh37 Chromosome 9, 137686951: 137686951
36 COL5A1 NM_000093.4(COL5A1): c.2724G> A (p.Pro908=) single nucleotide variant Benign/Likely benign rs41310207 GRCh38 Chromosome 9, 134795105: 134795105
37 COL5A1 NM_000093.4(COL5A1): c.2745+15A> T single nucleotide variant Benign/Likely benign rs79481146 GRCh37 Chromosome 9, 137686987: 137686987
38 COL5A1 NM_000093.4(COL5A1): c.2745+15A> T single nucleotide variant Benign/Likely benign rs79481146 GRCh38 Chromosome 9, 134795141: 134795141
39 COL5A1 NM_000093.4(COL5A1): c.2799+4T> C single nucleotide variant Benign/Likely benign rs75815945 GRCh37 Chromosome 9, 137687165: 137687165
40 COL5A1 NM_000093.4(COL5A1): c.2799+4T> C single nucleotide variant Benign/Likely benign rs75815945 GRCh38 Chromosome 9, 134795319: 134795319
41 COL5A1 NM_000093.4(COL5A1): c.2852A> G (p.Asn951Ser) single nucleotide variant Benign/Likely benign rs61736966 GRCh37 Chromosome 9, 137688701: 137688701
42 COL5A1 NM_000093.4(COL5A1): c.2852A> G (p.Asn951Ser) single nucleotide variant Benign/Likely benign rs61736966 GRCh38 Chromosome 9, 134796855: 134796855
43 COL5A1 NM_000093.4(COL5A1): c.2892C> T (p.Gly964=) single nucleotide variant Benign/Likely benign rs78511105 GRCh37 Chromosome 9, 137688741: 137688741
44 COL5A1 NM_000093.4(COL5A1): c.2892C> T (p.Gly964=) single nucleotide variant Benign/Likely benign rs78511105 GRCh38 Chromosome 9, 134796895: 134796895
45 COL5A1 NM_000093.4(COL5A1): c.2952+11A> T single nucleotide variant Benign rs4240707 GRCh37 Chromosome 9, 137690318: 137690318
46 COL5A1 NM_000093.4(COL5A1): c.2952+11A> T single nucleotide variant Benign rs4240707 GRCh38 Chromosome 9, 134798472: 134798472
47 COL5A1 NM_000093.4(COL5A1): c.3591C> T (p.Asp1197=) single nucleotide variant Conflicting interpretations of pathogenicity rs370349155 GRCh37 Chromosome 9, 137703346: 137703346
48 COL5A1 NM_000093.4(COL5A1): c.3591C> T (p.Asp1197=) single nucleotide variant Conflicting interpretations of pathogenicity rs370349155 GRCh38 Chromosome 9, 134811500: 134811500
49 COL5A1 NM_000093.4(COL5A1): c.4065C> T (p.Pro1355=) single nucleotide variant Benign/Likely benign rs61737906 GRCh37 Chromosome 9, 137707472: 137707472
50 COL5A1 NM_000093.4(COL5A1): c.4065C> T (p.Pro1355=) single nucleotide variant Benign/Likely benign rs61737906 GRCh38 Chromosome 9, 134815626: 134815626

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
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....