EDSARTH1
MCID: EHL075
MIFTS: 36

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 56 73
Arthrochalasis Multiplex Congenita 56 73
Ehlers-Danlos Syndrome, Type 7a 29 6
Edsarth1 56 73
Eds Viia 56 73
Eds7a 56 73
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 56
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 56
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 73
Ehlers-Danlos Syndrome, Arthrochalasia Type 71
Ehlers-Danlos Syndrome Arthrochalasic Type 73
Ehlers-Danlos Syndrome, Type Viia 13
Eds Vii, Mutant Procollagen Type 56
Eds Vii Mutant Procollagen Type 73
Ehlers-Danlos Syndrome 7a 73
Eds Viib 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ehlers-danlos syndrome, arthrochalasia type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 73 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 bone, and related phenotypes are malar flattening and scoliosis

OMIM : 56 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

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 osteopenia 31 HP:0000938
5 muscular hypotonia 31 HP:0001252
6 delayed gross motor development 31 HP:0002194
7 midface retrusion 31 HP:0011800
8 generalized hypotonia 31 HP:0001290
9 joint laxity 31 HP:0001388
10 increased susceptibility to fractures 31 HP:0002659
11 bruising susceptibility 31 HP:0000978
12 hyperextensible skin 31 HP:0000974
13 poor wound healing 31 HP:0001058
14 breech presentation 31 HP:0001623
15 mild short stature 31 HP:0003502
16 atrophic scars 31 HP:0001075
17 soft skin 31 HP:0000977
18 congenital bilateral hip dislocation 31 HP:0008780
19 premature osteoarthritis 31 HP:0003088
20 joint subluxation 31 HP:0032153

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Prenatal Manifestations Delivery:
breech presentation

Head And Neck Face:
midface hypoplasia

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

Skeletal Pelvis:
congenital bilateral hip dislocation

Growth Height:
short stature, mild to moderate

Clinical features from OMIM:

130060

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:

40
Skin, Bone

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. 61 56 6
18409203 2008
2
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 56 6
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. 56 6
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. 56 6
3082886 1986
5
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 56 6
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. 56
9295084 1997
7
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
8
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. 56
1303238 1992
9
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
10
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII. 56
3019133 1986
11
Molecular pathology in inherited disorders of collagen metabolism. 56
7042525 1982
12
Arthrochalasis multiplex congenita; congenital flaccidity of the joints. 56
13539092 1958
13
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. 61
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. 61
16407265 2006
15
[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects]. 61
8526413 1995
16
The Ehlers-Danlos syndromes. 61
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 446) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile)SNV Pathogenic 17311 rs72667022 17:48275794-48275794 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
3 COL1A1 NM_000088.3(COL1A1):c.472-1G>ASNV Pathogenic 17339 rs72667020 17:48275866-48275866 17:50198505-50198505
4 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
5 COL1A1 NM_000088.3(COL1A1):c.472-2A>TSNV Pathogenic 17350 rs72667019 17:48275867-48275867 17:50198506-50198506
6 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln)SNV Pathogenic 18185 rs74821926 4:74270115-74270115 4:73404398-73404398
7 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
8 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
9 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
10 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
11 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
12 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
13 COL1A1 NM_000088.3(COL1A1):c.334-5C>ASNV Conflicting interpretations of pathogenicity 324119 rs115997082 17:48276819-48276819 17:50199458-50199458
14 COL1A1 NM_000088.3(COL1A1):c.3815-12G>TSNV Conflicting interpretations of pathogenicity 324098 rs201066018 17:48263880-48263880 17:50186519-50186519
15 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)SNV Conflicting interpretations of pathogenicity 324103 rs575285203 17:48265929-48265929 17:50188568-50188568
16 COL1A1 NM_000088.3(COL1A1):c.627C>T (p.Gly209=)SNV Conflicting interpretations of pathogenicity 324117 rs201136122 17:48275325-48275325 17:50197964-50197964
17 COL1A1 NM_000088.3(COL1A1):c.528C>T (p.Ser176=)SNV Conflicting interpretations of pathogenicity 324118 rs748856187 17:48275809-48275809 17:50198448-50198448
18 COL1A1 NM_000088.3(COL1A1):c.*243_*244dupduplication Conflicting interpretations of pathogenicity 324088 rs56302025 17:48262618-48262619 17:50185257-50185258
19 COL1A1 NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala)SNV Conflicting interpretations of pathogenicity 324108 rs1800214 17:48267454-48267454 17:50190093-50190093
20 COL1A1 NM_000088.3(COL1A1):c.1983+9G>TSNV Conflicting interpretations of pathogenicity 324109 rs201091992 17:48269827-48269827 17:50192466-50192466
21 COL5A1 NM_001278074.1(COL5A1):c.4275C>T (p.Ile1425=)SNV Conflicting interpretations of pathogenicity 365727 rs767372665 9:137710546-137710546 9:134818700-134818700
22 COL5A1 NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=)SNV Conflicting interpretations of pathogenicity 365729 rs756096066 9:137710726-137710726 9:134818880-134818880
23 COL5A1 NM_001278074.1(COL5A1):c.2331+15C>TSNV Conflicting interpretations of pathogenicity 365716 rs369093559 9:137664695-137664695 9:134772849-134772849
24 COL5A1 NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe)SNV Conflicting interpretations of pathogenicity 365704 rs762625123 9:137534070-137534070 9:134642224-134642224
25 COL5A1 NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser)SNV Conflicting interpretations of pathogenicity 365717 rs148146480 9:137676905-137676905 9:134785059-134785059
26 COL5A1 NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=)SNV Conflicting interpretations of pathogenicity 365719 rs376248130 9:137697033-137697033 9:134805187-134805187
27 COL1A1 NM_000088.3(COL1A1):c.3099+7T>CSNV Conflicting interpretations of pathogenicity 324105 rs201682029 17:48266096-48266096 17:50188735-50188735
28 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=)SNV Conflicting interpretations of pathogenicity 324113 rs776387246 17:48272659-48272659 17:50195298-50195298
29 COL1A1 NM_000088.3(COL1A1):c.3424-6C>ASNV Conflicting interpretations of pathogenicity 324101 rs370865189 17:48264489-48264489 17:50187128-50187128
30 COL1A1 NM_000088.3(COL1A1):c.1002+10G>TSNV Conflicting interpretations of pathogenicity 324114 rs368316440 17:48273506-48273506 17:50196145-50196145
31 COL5A1 NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=)SNV Conflicting interpretations of pathogenicity 136898 rs41310953 9:137710863-137710863 9:134819017-134819017
32 COL1A1 NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=)SNV Conflicting interpretations of pathogenicity 281778 rs1800219 17:48263208-48263208 17:50185847-50185847
33 COL1A2 NM_000089.3(COL1A2):c.594+5A>TSNV Conflicting interpretations of pathogenicity 281902 rs200744314 7:94035620-94035620 7:94406308-94406308
34 COL5A2 NM_000393.5(COL5A2):c.322+8T>CSNV Conflicting interpretations of pathogenicity 136965 rs372227642 2:189974943-189974943 2:189110217-189110217
35 COL5A1 NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=)SNV Conflicting interpretations of pathogenicity 255063 rs199630108 9:137676843-137676843 9:134784997-134784997
36 COL5A1 NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=)SNV Conflicting interpretations of pathogenicity 136928 rs139406076 9:137623401-137623401 9:134731555-134731555
37 COL5A2 NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)SNV Conflicting interpretations of pathogenicity 136958 rs142544320 2:189898904-189898904 2:189034178-189034178
38 COL5A2 NM_000393.5(COL5A2):c.3201+14C>TSNV Conflicting interpretations of pathogenicity 255999 rs368713290 2:189912921-189912921 2:189048195-189048195
39 COL5A2 NM_000393.5(COL5A2):c.403-3T>CSNV Conflicting interpretations of pathogenicity 256003 rs369733690 2:189962059-189962059 2:189097333-189097333
40 COL5A1 NM_001278074.1(COL5A1):c.787-15G>ASNV Conflicting interpretations of pathogenicity 136924 rs150200872 9:137620501-137620501 9:134728655-134728655
41 COL5A1 NM_001278074.1(COL5A1):c.924+14G>ASNV Conflicting interpretations of pathogenicity 136925 rs200595318 9:137620667-137620667 9:134728821-134728821
42 COL5A1 NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=)SNV Conflicting interpretations of pathogenicity 136880 rs370349155 9:137703346-137703346 9:134811500-134811500
43 COL5A1 NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met)SNV Conflicting interpretations of pathogenicity 213040 rs142313124 9:137658307-137658307 9:134766461-134766461
44 COL5A1 NM_001278074.1(COL5A1):c.3345G>A (p.Pro1115=)SNV Conflicting interpretations of pathogenicity 212899 rs764683617 9:137698121-137698121 9:134806275-134806275
45 COL5A1 NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg)SNV Conflicting interpretations of pathogenicity 212969 rs140797509 9:137706719-137706719 9:134814873-134814873
46 COL5A1 NM_001278074.1(COL5A1):c.5370+11C>TSNV Conflicting interpretations of pathogenicity 212912 rs764644830 9:137727061-137727061 9:134835215-134835215
47 COL1A1 NM_000088.3(COL1A1):c.2595C>T (p.Arg865=)SNV Conflicting interpretations of pathogenicity 35915 rs117672175 17:48267238-48267238 17:50189877-50189877
48 COL5A2 NM_000393.5(COL5A2):c.3471+8A>TSNV Conflicting interpretations of pathogenicity 155778 rs367643805 2:189907869-189907869 2:189043143-189043143
49 COL1A1 NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr)SNV Conflicting interpretations of pathogenicity 196007 rs149561221 17:48270160-48270160 17:50192799-50192799
50 COL5A1 NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=)SNV Conflicting interpretations of pathogenicity 197054 rs139070070 9:137694796-137694796 9:134802950-134802950

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

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

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