EDSARTH2
MCID: EHL087
MIFTS: 29

Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 (EDSARTH2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

Name: Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 58 76 30 6
Eds Viib 58 76 74
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant 58 76
Edsarth2 58 76
Eds7b 58 76
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant; Eds7b 58
Ehlers-Danlos Syndrome, Type Viib 41
Ehlers-Danlos Syndrome, Type 7b 30
Ehlers-Danlos Syndrome 7b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
easy or excessive bleeding noted during surgery


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, arthrochalasia type, 2: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition 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, 2, also known as eds viib, is related to ehlers-danlos syndrome type 7b and ehlers-danlos syndrome, arthrochalasia type, 1. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 is COL1A2 (Collagen Type I Alpha 2 Chain). Affiliated tissues include skin and bone, and related phenotypes are talipes equinovarus and atrophic scars

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). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. (617821)

Related Diseases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome type 7b 11.5
2 ehlers-danlos syndrome, arthrochalasia type, 1 11.3
3 ehlers-danlos syndrome 10.8

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 33 very rare (1%) HP:0001762
2 atrophic scars 33 very rare (1%) HP:0001075
3 scoliosis 33 HP:0002650
4 kyphosis 33 HP:0002808
5 hyperlordosis 33 HP:0003307
6 pes planus 33 HP:0001763
7 wormian bones 33 HP:0002645
8 bruising susceptibility 33 HP:0000978
9 hallux valgus 33 HP:0001822
10 hyperextensible skin 33 HP:0000974
11 generalized hypotonia 33 HP:0001290
12 delayed gross motor development 33 HP:0002194
13 hyperextensibility of the finger joints 33 HP:0001187
14 soft skin 33 HP:0000977
15 fragile skin 33 HP:0001030

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
lordosis

Skeletal Pelvis:
hip dislocation

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
hyperextensible fingers
subluxation of first carpometacarpal joints

Skeletal:
fractures (in some patients)

Skeletal Feet:
medial subluxation of great toes
bilateral metatarsus varus deformity
hallux valgus, severe
pes planus, severe
clubfeet (rare)

Skeletal Skull:
wormian bones
'salt and pepper' stippling of calvarium (rare)

Skin Nails Hair Skin:
hyperextensible skin
soft skin
easy bruisability
thin, velvety skin
fragile skin, mild
more
Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Skeletal Limbs:
recurrent joint subluxation
joint hypermobility, severe
dislocation or subluxation of elbows
dislocation or subluxation of shoulders
dislocation or subluxation of wrists
more
Genitourinary Bladder:
bladder diverticula (rare)

Clinical features from OMIM:

617821

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 7b 30
2 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 30 COL1A2

Anatomical Context for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Articles related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

(show all 18)
# Title Authors Year
1
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. ( 20960610 )
2008
2
Ehlers-Danlos syndrome type VII: phenotype and genotype. ( 7864655 )
1994
3
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. ( 8071956 )
1994
4
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII. ( 8081389 )
1994
5
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide. ( 8340401 )
1993
6
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB. ( 1536766 )
1992
7
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. ( 1556139 )
1992
8
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. ( 1577745 )
1992
9
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain. ( 1712342 )
1991
10
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. ( 1990839 )
1991
11
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. ( 2777808 )
1989
12
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. ( 2454224 )
1988
13
Ehlers-Danlos syndrome: yet another type? ( 3621666 )
1987
14
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. ( 3680255 )
1987
15
Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes. ( 3733683 )
1986
16
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. ( 2993307 )
1985
17
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. ( 6773953 )
1980
18
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. ( 4742738 )
1973

Variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 COL1A2, EX6DEL deletion Pathogenic
2 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
3 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh38 Chromosome 7, 94401622: 94401622
4 COL1A2 COL1A2, IVS6DS, G-A, -1 single nucleotide variant Pathogenic
5 COL1A2 COL1A2, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
6 COL1A2 NM_000089.3(COL1A2): c.226-1G> C single nucleotide variant Pathogenic rs66820119 GRCh37 Chromosome 7, 94030878: 94030878
7 COL1A2 NM_000089.3(COL1A2): c.226-1G> C single nucleotide variant Pathogenic rs66820119 GRCh38 Chromosome 7, 94401566: 94401566
8 COL1A2 NM_000089.3(COL1A2): c.226-2A> G single nucleotide variant Likely pathogenic rs72656355 GRCh37 Chromosome 7, 94030877: 94030877
9 COL1A2 NM_000089.3(COL1A2): c.226-2A> G single nucleotide variant Likely pathogenic rs72656355 GRCh38 Chromosome 7, 94401565: 94401565
10 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
11 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
12 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh37 Chromosome 7, 94055784: 94055784
13 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh38 Chromosome 7, 94426472: 94426472
14 COL1A2 NM_000089.3(COL1A2): c.3853A> C (p.Asn1285His) single nucleotide variant Uncertain significance rs144797861 GRCh37 Chromosome 7, 94058641: 94058641
15 COL1A2 NM_000089.3(COL1A2): c.3853A> C (p.Asn1285His) single nucleotide variant Uncertain significance rs144797861 GRCh38 Chromosome 7, 94429329: 94429329
16 COL1A2 NM_000089.3(COL1A2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs763509640 GRCh38 Chromosome 7, 94404562: 94404562
17 COL1A2 NM_000089.3(COL1A2): c.286A> G (p.Met96Val) single nucleotide variant Uncertain significance rs763509640 GRCh37 Chromosome 7, 94033874: 94033874
18 COL1A2 NM_000089.3(COL1A2): c.982G> A (p.Gly328Ser) single nucleotide variant Pathogenic rs66612022 GRCh38 Chromosome 7, 94409768: 94409768
19 COL1A2 NM_000089.3(COL1A2): c.982G> A (p.Gly328Ser) single nucleotide variant Pathogenic rs66612022 GRCh37 Chromosome 7, 94039080: 94039080
20 COL1A2 NM_000089.3(COL1A2): c.52T> C (p.Cys18Arg) single nucleotide variant Uncertain significance rs200278401 GRCh38 Chromosome 7, 94395083: 94395083
21 COL1A2 NM_000089.3(COL1A2): c.52T> C (p.Cys18Arg) single nucleotide variant Uncertain significance rs200278401 GRCh37 Chromosome 7, 94024395: 94024395
22 COL1A2 NM_000089.3(COL1A2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs771139732 GRCh38 Chromosome 7, 94408214: 94408214
23 COL1A2 NM_000089.3(COL1A2): c.671G> A (p.Arg224His) single nucleotide variant Uncertain significance rs771139732 GRCh37 Chromosome 7, 94037526: 94037526
24 COL1A2 NM_000089.3(COL1A2): c.1127G> T (p.Gly376Val) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 94039769: 94039769
25 COL1A2 NM_000089.3(COL1A2): c.1127G> T (p.Gly376Val) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 94410457: 94410457

Expression for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2.

Pathways for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

GO Terms for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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