OI15
MCID: OST110
MIFTS: 39

Osteogenesis Imperfecta, Type Xv (OI15)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xv:

Name: Osteogenesis Imperfecta, Type Xv 58 30 13 6 41 74
Oi15 58 12 76
Osteogenesis Imperfecta Type 15 12 15
Osteogenesis Imperfecta Type Xv 12 76
Osteogenesis Imperfecta 15 76
Oi, Type Xv 58
Oi Type Xv 76
Oi-Xv 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
osteogenesis imperfecta, type xv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xv

OMIM : 58 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients. (615220)

MalaCards based summary : Osteogenesis Imperfecta, Type Xv, also known as oi15, is related to acute diarrhea and urinary system disease. An important gene associated with Osteogenesis Imperfecta, Type Xv is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways are Developmental Biology and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, brain and hypothalamus, and related phenotypes are scoliosis and global developmental delay

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the WNT1 gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 15: 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. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

Related Diseases for Osteogenesis Imperfecta, Type Xv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xv

Human phenotypes related to Osteogenesis Imperfecta, Type Xv:

33 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 global developmental delay 33 HP:0001263
3 short stature 33 HP:0004322
4 platyspondyly 33 HP:0000926
5 cerebellar hypoplasia 33 HP:0001321
6 thin ribs 33 HP:0000883
7 blue sclerae 33 HP:0000592
8 hypoplasia of the pons 33 HP:0012110
9 schizencephaly 33 HP:0010636

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
platyspondyly
vertebral fractures

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal:
low bone density
lack of bone modeling

Skeletal Limbs:
bowing of lower extremities
multiple fractures of extremities
bowing of upper extremities
shortening of upper extremities
shortening of lower extremities
more
Growth Height:
short stature

Neurologic Central Nervous System:
developmental delay
pontine hypoplasia
brain malformation
unilateral cerebellar hypoplasia
congenital absence of the vermis
more
Head And Neck Eyes:
blue sclera

Skeletal Skull:
diminished calvarial mineralization

Clinical features from OMIM:

615220

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xv

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

Genetic Tests for Osteogenesis Imperfecta, Type Xv

Genetic tests related to Osteogenesis Imperfecta, Type Xv:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xv 30 WNT1

Anatomical Context for Osteogenesis Imperfecta, Type Xv

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

42
Bone, Brain, Hypothalamus, Pons, Eye

Publications for Osteogenesis Imperfecta, Type Xv

Articles related to Osteogenesis Imperfecta, Type Xv:

(showing 3, show less)
# Title Authors Year
1
Mutations in WNT1 are a cause of osteogenesis imperfecta. ( 23434763 )
2013
2
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. ( 23499310 )
2013
3
Mutations in WNT1 cause different forms of bone fragility. ( 23499309 )
2013

Variations for Osteogenesis Imperfecta, Type Xv

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

76 (showing 6, show less)
# Symbol AA change Variation ID SNP ID
1 WNT1 p.Cys143Phe VAR_069627
2 WNT1 p.Gly177Cys VAR_069628
3 WNT1 p.Phe298Cys VAR_069631
4 WNT1 p.Val355Phe VAR_069632 rs387907358
5 WNT1 p.Glu123Asp VAR_079407
6 WNT1 p.Cys153Gly VAR_079408

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xv:

6 (showing 18, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT1 NM_005430.3(WNT1): c.859dupC (p.His287Profs) duplication Pathogenic,risk factor rs387907353 GRCh37 Chromosome 12, 49375169: 49375169
2 WNT1 NM_005430.3(WNT1): c.859dupC (p.His287Profs) duplication Pathogenic,risk factor rs387907353 GRCh38 Chromosome 12, 48981386: 48981386
3 WNT1 NM_005430.3(WNT1): c.624+4A> G single nucleotide variant Pathogenic rs387907354 GRCh37 Chromosome 12, 49374476: 49374476
4 WNT1 NM_005430.3(WNT1): c.624+4A> G single nucleotide variant Pathogenic rs387907354 GRCh38 Chromosome 12, 48980693: 48980693
5 WNT1 NM_005430.3(WNT1): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs387907355 GRCh37 Chromosome 12, 49374413: 49374413
6 WNT1 NM_005430.3(WNT1): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs387907355 GRCh38 Chromosome 12, 48980630: 48980630
7 WNT1 NM_005430.3(WNT1): c.884C> A (p.Ser295Ter) single nucleotide variant Pathogenic rs387907356 GRCh37 Chromosome 12, 49375194: 49375194
8 WNT1 NM_005430.3(WNT1): c.884C> A (p.Ser295Ter) single nucleotide variant Pathogenic rs387907356 GRCh38 Chromosome 12, 48981411: 48981411
9 WNT1 NM_005430.3(WNT1): c.949_950insAACA (p.Ser317Lysfs) insertion Pathogenic rs387907357 GRCh37 Chromosome 12, 49375256: 49375259
10 WNT1 NM_005430.3(WNT1): c.949_950insAACA (p.Ser317Lysfs) insertion Pathogenic rs387907357 GRCh38 Chromosome 12, 48981473: 48981476
11 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs387907358 GRCh37 Chromosome 12, 49375373: 49375373
12 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs387907358 GRCh38 Chromosome 12, 48981590: 48981590
13 WNT1 NM_005430.3(WNT1): c.1025delC (p.Glu343Serfs) deletion Pathogenic rs727505392 GRCh37 Chromosome 12, 49375335: 49375335
14 WNT1 NM_005430.3(WNT1): c.1025delC (p.Glu343Serfs) deletion Pathogenic rs727505392 GRCh38 Chromosome 12, 48981552: 48981552
15 WNT1 NM_005430.3(WNT1): c.104+4_104+44del deletion Likely pathogenic rs1555178899 GRCh37 Chromosome 12, 49372541: 49372581
16 WNT1 NM_005430.3(WNT1): c.104+4_104+44del deletion Likely pathogenic rs1555178899 GRCh38 Chromosome 12, 48978758: 48978798
17 WNT1 NM_005430.3(WNT1): c.1090C> G (p.Arg364Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 49375400: 49375400
18 WNT1 NM_005430.3(WNT1): c.1090C> G (p.Arg364Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 48981617: 48981617

Expression for Osteogenesis Imperfecta, Type Xv

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

Pathways for Osteogenesis Imperfecta, Type Xv

GO Terms for Osteogenesis Imperfecta, Type Xv

Cellular components related to Osteogenesis Imperfecta, Type Xv according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 9.32 STX1A STX2
2 endomembrane system GO:0012505 9.26 STX1A STX2
3 presynaptic membrane GO:0042734 9.16 STX1A STX2
4 SNARE complex GO:0031201 8.96 STX1A STX2
5 presynaptic active zone membrane GO:0048787 8.62 STX1A STX2

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

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 9.48 WNT1 WNT10B
2 exocytosis GO:0006887 9.46 STX1A STX2
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.43 WNT1 WNT10B
4 canonical Wnt signaling pathway GO:0060070 9.4 WNT1 WNT10B
5 cell fate commitment GO:0045165 9.37 WNT1 WNT10B
6 negative regulation of fat cell differentiation GO:0045599 9.32 WNT1 WNT10B
7 vesicle fusion GO:0006906 9.26 STX1A STX2
8 vesicle docking GO:0048278 9.16 STX1A STX2
9 hematopoietic stem cell proliferation GO:0071425 8.96 WNT1 WNT10B
10 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 8.62 STX1A STX2

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.32 STX1A STX2
2 SNARE binding GO:0000149 9.26 STX1A STX2
3 frizzled binding GO:0005109 9.16 WNT1 WNT10B
4 SNAP receptor activity GO:0005484 8.96 STX1A STX2
5 receptor ligand activity GO:0048018 8.62 WNT1 WNT10B

Sources for Osteogenesis Imperfecta, Type Xv

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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