MCID: EHL087
MIFTS: 21

Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare 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
Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant; Eds7b 57
Eds7b 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
easy or excessive bleeding noted during surgery


Classifications:



External Ids:

OMIM 57 617821
MeSH 44 D004535
UMLS 73 C1851801

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 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.

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 11.3
2 ehlers-danlos syndrome, arthrochalasia type, 1 10.9

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

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

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
Prenatal Manifestations Delivery:
breech presentation

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, 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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