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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Osteogenesis imperfecta, type 5 (C536046)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Astley-Kendall syndrome (C535392)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Cole Carpenter syndrome (C535963)
..GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..Grant syndrome (C537293)
..Lowry Maclean syndrome (C537037)
..OI/EDS Combined Syndrome (C565178)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Osteogenesis Imperfecta Type VII (C565200)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, Levin type (C536039)
..Osteogenesis imperfecta, type 1A (C536041)
..Osteogenesis imperfecta, type 2A (C536042)
..Osteogenesis imperfecta, type 2B (C536043)
..Osteogenesis imperfecta, type 3 (C536044)
..Osteogenesis imperfecta, type 4 (C536045)
..Osteogenesis imperfecta, type 5 (C536046)
..Osteogenesis imperfecta, type 6 (C536047)
..Osteogenesis imperfecta, type 7 (C536048)
..Osteogenesis Imperfecta, Type IX (C564921)
..Osteogenesis Imperfecta, Type V (C567042)
..Osteogenesis Imperfecta, Type VI (C567041)
..Osteogenesis imperfecta, type VIII (C536049)
..Osteopenic Nonfracture Syndrome (C567172)
..Osteoporosis-pseudoglioma syndrome (C536063)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8398

Name:

Osteogenesis imperfecta, type 5

Definition:

Alternative IDs:

OMIM:610967

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C536046 |C16.320.737/C536046 |C17.300.200.540/C536046

Synonyms:

OI5 |OI, TYPE V |OSTEOGENESIS IMPERFECTA, TYPE V

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C536046
MeSH: C536046
OMIM: 610967;

Genes: IFITM5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0002644	Abnormality of pelvic girdle bone morphology
4	HP:0000164	Abnormality of the dentition
5	HP:0000478	Abnormality of the eye
6	HP:0005084	Anterior radial head dislocation
7	HP:0004586	Biconcave vertebral bodies
8	HP:0000592	Blue sclerae	HP:0040283
9	HP:0000703	Dentinogenesis imperfecta	HP:0040283
10	HP:0030268	Hyperplastic callus formation
11	HP:0001382	Joint hypermobility	HP:0040283
12	HP:0006394	Limited pronation/supination of forearm
13	HP:0000938	Osteopenia
14	HP:0000926	Platyspondyly
15	HP:0002757	Recurrent fractures
16	HP:0004322	Short stature
17	HP:0000325	Triangular face
18	HP:0008422	Vertebral wedging
19	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001025295.2(IFITM5):c.119C>T (p.Ser40Leu)	387733	IFITM5	Pathogenic	786201032	RCV000162330;	N	MedGen:C1970414,OMIM:610967	11	299372	299372	NM_001025295.2:c.119C>T	NP_001020466.1:p.Ser40Leu	NC_000011.9:g.299372G>A	OMIM Allelic Variant:614757.0002	C1970414 610967 Osteogenesis imperfecta type 5
NM_001025295.2(IFITM5):c.-14C>T	387733	IFITM5	Pathogenic	587776916	RCV000030773;	N	MedGen:C1970414,OMIM:610967	11	299504	299504	NM_001025295.2:c.-14C>T		11:g.299504G>A	OMIM Allelic Variant:614757.0001	C1970414 610967 Osteogenesis imperfecta type 5