MCID: OST138
MIFTS: 23

Osteogenesis Imperfecta, Type Xvii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xvii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xvii:

Name: Osteogenesis Imperfecta, Type Xvii 57 75 29 6 40
Oi17 57 12 75
Osteogenesis Imperfecta Type Xvii 12
Osteogenesis Imperfecta Type 17 12
Osteogenesis Imperfecta 17 75

Characteristics:

OMIM:

57
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:

32
osteogenesis imperfecta, type xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xvii

UniProtKB/Swiss-Prot : 75 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 delayed speech and language development and osteoporosis

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Xvii:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 osteoporosis 32 HP:0000939
3 soft skin 32 HP:0000977
4 muscular hypotonia 32 HP:0001252
5 motor delay 32 HP:0001270
6 muscle weakness 32 HP:0001324
7 scoliosis 32 HP:0002650
8 vertebral compression fractures 32 HP:0002953
9 decreased muscle mass 32 HP:0003199
10 short stature 32 frequent (33%) HP:0004322
11 thin metacarpal cortices 32 HP:0006086
12 intraventricular hemorrhage 32 occasional (7.5%) HP:0030746

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 29 SPARC

Anatomical Context for Osteogenesis Imperfecta, Type Xvii

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 SPARC p.Arg166His VAR_075142 rs1057517662Osteogenesis
2 SPARC p.Glu263Lys VAR_075143 rs1057517663Osteogenesis

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 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
40 LOVD
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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