OIEDS2
MCID: CMB109
MIFTS: 19

Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 (OIEDS2)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

MalaCards integrated aliases for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

Name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 57 29 6
Oieds Syndrome 2 57
Oieds2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
combined osteogenesis imperfecta and ehlers-danlos syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset childhood onset


Classifications:



Summaries for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

OMIM® : 57 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Raff et al., 2000; Malfait et al., 2013). For a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see 619115. (619120) (Updated 05-Apr-2021)

MalaCards based summary : Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2, is also known as oieds syndrome 2. An important gene associated with Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 is COL1A2 (Collagen Type I Alpha 2 Chain). Affiliated tissues include bone, and related phenotypes are short stature and joint hypermobility

Related Diseases for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Diseases in the Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 family:

Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Symptoms & Phenotypes for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Human phenotypes related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 joint hypermobility 31 very rare (1%) HP:0001382
3 recurrent fractures 31 very rare (1%) HP:0002757
4 joint dislocation 31 very rare (1%) HP:0001373
5 bruising susceptibility 31 very rare (1%) HP:0000978
6 blue sclerae 31 very rare (1%) HP:0000592
7 hyperextensible skin 31 very rare (1%) HP:0000974
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 poor wound healing 31 very rare (1%) HP:0001058
10 arterial rupture 31 very rare (1%) HP:0025019
11 dermal translucency 31 very rare (1%) HP:0010648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperextensible skin
soft skin
easy bruisability
abnormal wound healing

Skeletal Limbs:
fracture
large joint hyperextensibility

Growth Height:
short stature (<3rd - 10th centile)

Skeletal:
joint dislocations
decreased bone density
multiple fractures in childhood

Cardiovascular Vascular:
vascular fragility

Head And Neck Eyes:
light blue sclerae

Clinical features from OMIM®:

619120 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Search Clinical Trials , NIH Clinical Center for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Genetic Tests for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Genetic tests related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

# Genetic test Affiliating Genes
1 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 29 COL1A2

Anatomical Context for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

MalaCards organs/tissues related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

40
Bone

Publications for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Articles related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

# Title Authors PMID Year
1
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. 6 57
23692737 2013
2
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. 6 57
11288717 2001
3
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. 57 6
10982177 2000

Variations for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

ClinVar genetic disease variations for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A2 COL1A2, IVS9DS, G-A, +5 SNV Pathogenic 17269 GRCh37:
GRCh38:
2 COL1A2 nsv513787 Duplication Pathogenic 17271 GRCh37:
GRCh38:
3 COL1A2 NM_000089.3(COL1A2):c.3105+2T>C SNV Pathogenic 17277 rs72659324 GRCh37: 7:94055844-94055844
GRCh38: 7:94426532-94426532
4 COL1A2 NM_000089.4(COL1A2):c.324+4del Deletion Pathogenic 988623 GRCh37: 7:94033915-94033915
GRCh38: 7:94404603-94404603
5 COL1A2 NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) SNV Pathogenic 425658 rs1114167416 GRCh37: 7:94034006-94034006
GRCh38: 7:94404694-94404694

Expression for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Search GEO for disease gene expression data for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2.

Pathways for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

GO Terms for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

Sources for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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