OI17
MCID: OST138
MIFTS: 31

Osteogenesis Imperfecta, Type Xvii (OI17)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xvii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xvii:

Name: Osteogenesis Imperfecta, Type Xvii 57 72 29 6 39
Oi17 57 12 72
Osteogenesis Imperfecta Type 17 12 15
Osteogenesis Imperfecta Type Xvii 12
Osteogenesis Imperfecta 17 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
osteogenesis imperfecta, type xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xvii

UniProtKB/Swiss-Prot : 72 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, also known as oi17, is related to osteogenesis imperfecta, type xv and osteogenesis imperfecta, type xii. An important gene associated with Osteogenesis Imperfecta, Type Xvii is SPARC (Secreted Protein Acidic And Cysteine Rich). Affiliated tissues include bone, 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.

More information from OMIM: 616507 PS166200

Related Diseases for Osteogenesis Imperfecta, Type Xvii

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Xvii:



Diseases related to Osteogenesis Imperfecta, Type Xvii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xvii

Human phenotypes related to Osteogenesis Imperfecta, Type Xvii:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 short stature 31 frequent (33%) HP:0004322
2 intraventricular hemorrhage 31 occasional (7.5%) HP:0030746
3 scoliosis 31 HP:0002650
4 muscle weakness 31 HP:0001324
5 delayed speech and language development 31 HP:0000750
6 decreased muscle mass 31 HP:0003199
7 osteoporosis 31 HP:0000939
8 motor delay 31 HP:0001270
9 platyspondyly 31 HP:0000926
10 vertebral compression fractures 31 HP:0002953
11 soft skin 31 HP:0000977
12 thin metacarpal cortices 31 HP:0006086
13 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
vertebral compression fractures
generalized platyspondyly

Skeletal:
osteoporosis

Skin Nails Hair Skin:
soft skin

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

Head And Neck Ears:
normal hearing

Head And Neck Eyes:
white to slightly gray sclerae

Muscle Soft Tissue:
muscle weakness
decreased muscle mass
muscle hypotonia

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

Skeletal Hands:
thin metacarpal cortices

Head And Neck Teeth:
normal teeth

Growth Height:
short stature, variable

Laboratory Abnormalities:
normal serum biochemistry

Clinical features from OMIM®:

616507 (Updated 05-Apr-2021)

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:

40
Bone

Publications for Osteogenesis Imperfecta, Type Xvii

Articles related to Osteogenesis Imperfecta, Type Xvii:

# Title Authors PMID Year
1
Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 6 57
26027498 2015
2
Hypercalciuria in children severely affected with osteogenesis imperfecta. 61
2066859 1991

Variations for Osteogenesis Imperfecta, Type Xvii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xvii:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPARC NM_003118.4(SPARC):c.787G>A (p.Glu263Lys) SNV Pathogenic 372141 rs1057517663 GRCh37: 5:151043744-151043744
GRCh38: 5:151664183-151664183
2 SPARC NM_003118.4(SPARC):c.497G>A (p.Arg166His) SNV Pathogenic 372140 rs1057517662 GRCh37: 5:151047116-151047116
GRCh38: 5:151667555-151667555
3 SPARC NM_003118.4(SPARC):c.891C>T (p.Ile297=) SNV Pathogenic 733843 rs148883169 GRCh37: 5:151043153-151043153
GRCh38: 5:151663592-151663592
4 SPARC NM_003118.4(SPARC):c.*55C>G SNV Uncertain significance 1032875 GRCh37: 5:151043077-151043077
GRCh38: 5:151663516-151663516

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

72
# Symbol AA change Variation ID SNP ID
1 SPARC p.Arg166His VAR_075142 rs105751766
2 SPARC p.Glu263Lys VAR_075143 rs105751766

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

Biological processes related to Osteogenesis Imperfecta, Type Xvii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular glucose homeostasis GO:0001678 8.96 NR1H4 ABCC8
2 response to pH GO:0009268 8.62 CA2 ABCC8

Molecular functions related to Osteogenesis Imperfecta, Type Xvii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydro-lyase activity GO:0016836 9.16 CA2 CA1
2 carbonate dehydratase activity GO:0004089 8.96 CA2 CA1
3 arylesterase activity GO:0004064 8.62 CA2 CA1

Sources for Osteogenesis Imperfecta, Type Xvii

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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