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 57 75 29 6
Eds Viib 57 75 73
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant 57 75
Edsarth2 57 75
Eds7b 57 75
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant; Eds7b 57
Ehlers-Danlos Syndrome, Type Viib 40
Ehlers-Danlos Syndrome, Type 7b 29
Ehlers-Danlos Syndrome 7b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
easy or excessive bleeding noted during surgery


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

UniProtKB/Swiss-Prot : 75 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 scoliosis and kyphosis

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). 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 11.4
2 ehlers-danlos syndrome, arthrochalasia type, 1 11.3
3 ehlers-danlos syndrome 10.8

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 kyphosis 32 HP:0002808
3 hyperlordosis 32 HP:0003307
4 pes planus 32 HP:0001763
5 wormian bones 32 HP:0002645
6 talipes equinovarus 32 very rare (1%) HP:0001762
7 bruising susceptibility 32 HP:0000978
8 hallux valgus 32 HP:0001822
9 hyperextensible skin 32 HP:0000974
10 generalized hypotonia 32 HP:0001290
11 delayed gross motor development 32 HP:0002194
12 atrophic scars 32 very rare (1%) HP:0001075
13 soft skin 32 HP:0000977
14 fragile skin 32 HP:0001030
15 hyperextensibility of the finger joints 32 HP:0001187

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 29
2 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29 COL1A2

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

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

41
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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

# Title Authors Year
1
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. ( 20960610 )
2008
2
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
3
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
4
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
5
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB. ( 1536766 )
1992
6
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. ( 3680255 )
1987

Variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

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

6
# 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

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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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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