OI15
MCID: OST110
MIFTS: 39

Osteogenesis Imperfecta, Type Xv (OI15)

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 Xv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xv:

Name: Osteogenesis Imperfecta, Type Xv 57 29 13 6 39 71
Oi15 57 12 73
Osteogenesis Imperfecta Type 15 12 15
Osteogenesis Imperfecta Type Xv 12 73
Osteogenesis Imperfecta 15 73
Oi, Type Xv 57
Oi Type Xv 73
Oi-Xv 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type xv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110347
OMIM® 57 615220
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
UMLS 71 C3808844

Summaries for Osteogenesis Imperfecta, Type Xv

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Osteogenesis Imperfecta, Type Xv, also known as oi15, is related to osteoporosis-pseudoglioma syndrome and osteogenesis imperfecta, type xvi. An important gene associated with Osteogenesis Imperfecta, Type Xv is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways are Colorectal Cancer Metastasis and Wnt signaling pathway. Affiliated tissues include bone, brain and hypothalamus, and related phenotypes are global developmental delay and joint hypermobility

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

UniProtKB/Swiss-Prot : 73 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

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



Diseases related to Osteogenesis Imperfecta, Type Xv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xv

Human phenotypes related to Osteogenesis Imperfecta, Type Xv:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 joint hypermobility 31 very rare (1%) HP:0001382
3 recurrent fractures 31 very rare (1%) HP:0002757
4 blue sclerae 31 very rare (1%) HP:0000592
5 bowing of limbs due to multiple fractures 31 very rare (1%) HP:0003023
6 scoliosis 31 HP:0002650
7 short stature 31 HP:0004322
8 platyspondyly 31 HP:0000926
9 cerebellar hypoplasia 31 HP:0001321
10 thin ribs 31 HP:0000883
11 hypoplasia of the pons 31 HP:0012110
12 schizencephaly 31 HP:0010636

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
bowing of upper extremities
shortening of upper extremities
shortening of lower extremities
multiple fractures of 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 (Updated 05-Mar-2021)

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 29 WNT1

Anatomical Context for Osteogenesis Imperfecta, Type Xv

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

40
Bone, Brain, Hypothalamus, Pons, Cerebellum

Publications for Osteogenesis Imperfecta, Type Xv

Articles related to Osteogenesis Imperfecta, Type Xv:

# Title Authors PMID Year
1
Mutations in WNT1 are a cause of osteogenesis imperfecta. 6 57
23434763 2013
2
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. 57 6
23499310 2013
3
Mutations in WNT1 cause different forms of bone fragility. 57 6
23499309 2013
4
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. 57
26671912 2016
5
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. 57
24634143 2014
6
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. 57
23656646 2013
7
Swaying is a mutant allele of the proto-oncogene Wnt-1. 57
1835670 1991
8
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
9
Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype. 61
32369212 2020

Variations for Osteogenesis Imperfecta, Type Xv

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xv:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT1 NM_005430.4(WNT1):c.624+4A>G SNV Pathogenic 50258 rs387907354 12:49374476-49374476 12:48980693-48980693
2 WNT1 NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) SNV Pathogenic 50259 rs387907355 12:49374413-49374413 12:48980630-48980630
3 WNT1 NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV Pathogenic 50262 rs387907358 12:49375373-49375373 12:48981590-48981590
4 WNT1 NM_005430.4(WNT1):c.1026del (p.Glu343fs) Deletion Pathogenic 180210 rs727505392 12:49375335-49375335 12:48981552-48981552
5 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs) Duplication Pathogenic 50257 rs387907353 12:49375163-49375164 12:48981380-48981381
6 WNT1 NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) Duplication Pathogenic 50261 rs387907357 12:49375255-49375256 12:48981472-48981473
7 WNT1 NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) SNV Pathogenic 50260 rs387907356 12:49375194-49375194 12:48981411-48981411
8 WNT10B NM_005430.4(WNT1):c.104+4_104+44del Deletion Likely pathogenic 488347 rs1555178899 12:49372540-49372580 12:48978757-48978797
9 WNT1 NM_005430.4(WNT1):c.1060del (p.His354fs) Deletion Uncertain significance 873444 12:49375369-49375369 12:48981586-48981586
10 WNT1 NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) SNV Uncertain significance 592130 rs1435433748 12:49375400-49375400 12:48981617-48981617

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

73
# 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

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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-binding transcription factor activity GO:0051091 9.32 WNT10B WNT1
2 cell fate commitment GO:0045165 9.26 WNT10B WNT1
3 canonical Wnt signaling pathway GO:0060070 9.16 WNT10B WNT1
4 negative regulation of fat cell differentiation GO:0045599 8.96 WNT10B WNT1
5 hematopoietic stem cell proliferation GO:0071425 8.62 WNT10B WNT1

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

# Name GO ID Score Top Affiliating Genes
1 receptor ligand activity GO:0048018 8.96 WNT10B WNT1
2 frizzled binding GO:0005109 8.62 WNT10B WNT1

Sources for Osteogenesis Imperfecta, Type Xv

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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