OI17
MCID: OST138
MIFTS: 23

Osteogenesis Imperfecta, Type Xvii (OI17)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Xvii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xvii:

Name: Osteogenesis Imperfecta, Type Xvii 58 76 30 6 41
Oi17 58 12 76
Osteogenesis Imperfecta Type Xvii 12
Osteogenesis Imperfecta Type 17 12
Osteogenesis Imperfecta 17 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
first fracture in early childhood
assisted ambulation or wheelchair-dependent
based on report of 2 unrelated girls (last curated august 2015)


HPO:

33
osteogenesis imperfecta, type xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xvii

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 17: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.

MalaCards based summary : Osteogenesis Imperfecta, Type Xvii, is also known as oi17. An important gene associated with Osteogenesis Imperfecta, Type Xvii is SPARC (Secreted Protein Acidic And Cysteine Rich). Affiliated tissues include bone and skin, and related phenotypes are short stature and intraventricular hemorrhage

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the SPARC gene on chromosome 5q33.

Description from OMIM: 616507

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xvii

Human phenotypes related to Osteogenesis Imperfecta, Type Xvii:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 short stature 33 frequent (33%) HP:0004322
2 intraventricular hemorrhage 33 occasional (7.5%) HP:0030746
3 muscular hypotonia 33 HP:0001252
4 muscle weakness 33 HP:0001324
5 scoliosis 33 HP:0002650
6 delayed speech and language development 33 HP:0000750
7 osteoporosis 33 HP:0000939
8 decreased muscle mass 33 HP:0003199
9 platyspondyly 33 HP:0000926
10 motor delay 33 HP:0001270
11 vertebral compression fractures 33 HP:0002953
12 soft skin 33 HP:0000977
13 thin metacarpal cortices 33 HP:0006086

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
decreased muscle mass
muscle hypotonia

Skeletal:
osteoporosis

Skin Nails Hair Skin:
soft skin

Head And Neck Teeth:
normal teeth

Skeletal Hands:
thin metacarpal cortices

Head And Neck Eyes:
white to slightly gray sclerae

Skeletal Spine:
scoliosis
vertebral compression fractures
generalized platyspondyly

Neurologic Central Nervous System:
motor delay
speech delay
intraventricular hemorrhage (in some patients)

Skeletal Limbs:
joint hyperlaxity
long bone deformities (in some patients)

Head And Neck Ears:
normal hearing

Growth Height:
short stature, variable

Laboratory Abnormalities:
normal serum biochemistry

Clinical features from OMIM:

616507

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xvii

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Xvii

Genetic Tests for Osteogenesis Imperfecta, Type Xvii

Genetic tests related to Osteogenesis Imperfecta, Type Xvii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xvii 30 SPARC

Anatomical Context for Osteogenesis Imperfecta, Type Xvii

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Xvii:

42
Bone, Skin

Publications for Osteogenesis Imperfecta, Type Xvii

Variations for Osteogenesis Imperfecta, Type Xvii

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Xvii:

76
# Symbol AA change Variation ID SNP ID
1 SPARC p.Arg166His VAR_075142 rs105751766
2 SPARC p.Glu263Lys VAR_075143 rs105751766

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xvii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPARC NM_001309443.1(SPARC): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs1057517662 GRCh38 Chromosome 5, 151667555: 151667555
2 SPARC NM_001309443.1(SPARC): c.494G> A (p.Arg165His) single nucleotide variant Pathogenic rs1057517662 GRCh37 Chromosome 5, 151047116: 151047116
3 SPARC NM_001309444.1(SPARC): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs1057517663 GRCh37 Chromosome 5, 151043744: 151043744
4 SPARC NM_001309444.1(SPARC): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs1057517663 GRCh38 Chromosome 5, 151664183: 151664183

Expression for Osteogenesis Imperfecta, Type Xvii

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Xvii.

Pathways for Osteogenesis Imperfecta, Type Xvii

GO Terms for Osteogenesis Imperfecta, Type Xvii

Sources for Osteogenesis Imperfecta, Type Xvii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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