OIEDS1
MCID: CMB108
MIFTS: 20

Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 (OIEDS1)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

MalaCards integrated aliases for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

Name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 57 29 6
Oieds Syndrome 1 57
Oieds1 57

Characteristics:

OMIM®:

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


HPO:

31
combined osteogenesis imperfecta and ehlers-danlos syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

OMIM® : 57 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) 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 Cabral et al., 2007; Malfait et al., 2013). (619115) (Updated 05-Apr-2021)

MalaCards based summary : Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1, is also known as oieds syndrome 1. An important gene associated with Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 is COL1A1 (Collagen Type I Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are scoliosis and inguinal hernia

Related Diseases for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Symptoms & Phenotypes for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Human phenotypes related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 inguinal hernia 31 very rare (1%) HP:0000023
3 short stature 31 very rare (1%) HP:0004322
4 reduced bone mineral density 31 very rare (1%) HP:0004349
5 atrial septal defect 31 very rare (1%) HP:0001631
6 joint hypermobility 31 very rare (1%) HP:0001382
7 recurrent fractures 31 very rare (1%) HP:0002757
8 bruising susceptibility 31 very rare (1%) HP:0000978
9 blue sclerae 31 very rare (1%) HP:0000592
10 hyperextensible skin 31 very rare (1%) HP:0000974
11 generalized hypotonia 31 very rare (1%) HP:0001290
12 poor wound healing 31 very rare (1%) HP:0001058
13 arterial rupture 31 very rare (1%) HP:0025019
14 dermal translucency 31 very rare (1%) HP:0010648
15 recurrent joint dislocation 31 very rare (1%) HP:0031869

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®:

619115 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Search Clinical Trials , NIH Clinical Center for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Genetic Tests for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Genetic tests related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

# Genetic test Affiliating Genes
1 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 29 COL1A1

Anatomical Context for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

MalaCards organs/tissues related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

40
Bone

Publications for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Articles related to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

# Title Authors PMID Year
1
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. 57 6
28261977 2017
2
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
3
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 6 57
17206620 2007
4
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 6 57
15728585 2005
5
First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome. 57
24443344 2014
6
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. 6
16407265 2006
7
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 6
1939261 1991

Variations for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

ClinVar genetic disease variations for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp) SNV Pathogenic 17348 rs67828806 GRCh37: 17:48275538-48275538
GRCh38: 17:50198177-50198177
2 COL1A1 NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) SNV Pathogenic 425634 rs1114167408 GRCh37: 17:48275547-48275547
GRCh38: 17:50198186-50198186
3 COL1A1 NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) SNV Pathogenic 420060 rs72654799 GRCh37: 17:48265902-48265902
GRCh38: 17:50188541-50188541
4 COL1A1 NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) Microsatellite Pathogenic 372753 rs74315111 GRCh37: 17:48265940-48265948
GRCh38: 17:50188579-50188587

Expression for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Search GEO for disease gene expression data for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1.

Pathways for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

GO Terms for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

Sources for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1

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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