OI15
MCID: OST110
MIFTS: 40

Osteogenesis Imperfecta, Type Xv (OI15)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Osteogenesis Imperfecta, Type Xv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xv:

Name: Osteogenesis Imperfecta, Type Xv 57 38 71
Osteogenesis Imperfecta Type 15 11 28 5 14
Oi15 57 11 73
Osteogenesis Imperfecta Type Xv 11 73
Osteogenesis Imperfecta 15 73
Oi, Type Xv 57
Oi Type Xv 73
Oi-Xv 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110347
OMIM® 57 615220
OMIM Phenotypic Series 57 PS166200
MeSH 43 D010013
ICD10 31 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 24-Oct-2022)

MalaCards based summary: Osteogenesis Imperfecta, Type Xv, also known as osteogenesis imperfecta type 15, is related to brittle bone disorder and osteogenesis imperfecta, type vi. An important gene associated with Osteogenesis Imperfecta, Type Xv is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways are Signaling by WNT and ncRNAs involved in Wnt signaling in hepatocellular carcinoma. Affiliated tissues include bone, brain and hypothalamus, and related phenotypes are global developmental delay and joint hypermobility

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An osteogenesis imperfecta that has material basis in mutation in the WNT1 gene on chromosome 12q13.

Related Diseases for Osteogenesis Imperfecta, Type Xv

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii
Osteogenesis Imperfecta, Type Xx Osteogenesis Imperfecta, Type Xxi
Osteogenesis Imperfecta, Type Xxii

Diseases related to Osteogenesis Imperfecta, Type Xv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 29.2 WNT1 TMEM38B SOST PLS3 P3H1 LRP5
2 osteogenesis imperfecta, type vi 10.2
3 osteogenesis imperfecta, type xiv 10.1 TMEM38B P3H1
4 osteogenesis imperfecta, type vii 10.1 SOST P3H1
5 bruck syndrome 10.1 TMEM38B P3H1
6 osteopetrosis, autosomal dominant 1 10.0 RBM27 LRP5
7 craniodiaphyseal dysplasia 10.0 SOST LRP5
8 caffey disease 10.0 TMEM38B P3H1
9 ectodermal dysplasia 13, hair/tooth type 10.0 SOST LRP5
10 dentinogenesis imperfecta 10.0 WNT1 TMEM38B P3H1
11 sclerosteosis 2 10.0 SOST LRP5
12 glucocorticoid-induced osteoporosis 10.0 SOST LRP5
13 osteopathia striata with cranial sclerosis 10.0 SOST LRP5
14 keratosis follicularis spinulosa decalvans 10.0 TMEM38B P3H1
15 cenani-lenz syndactyly syndrome 10.0 SOST LRP5
16 tetraamelia syndrome 9.9 SOST LRP5
17 osteogenesis imperfecta, type ii 9.9 TMEM38B P3H1
18 cole-carpenter syndrome 9.9 TMEM38B PLS3 P3H1
19 retinitis pigmentosa 7 9.9 PLS3 LRP5
20 craniodiaphyseal dysplasia, autosomal dominant 9.9 WNT1 SOST LRP5
21 osteoporosis-pseudoglioma syndrome 9.9 WNT1 SOST LRP5
22 van buchem disease 9.9 WNT1 SOST LRP5
23 camurati-engelmann disease 9.9 SOST LRP5
24 sclerosteosis 9.9 WNT1 SOST LRP5
25 osteogenesis imperfecta, type i 9.7 TMEM38B SOST PLS3 P3H1
26 mccune-albright syndrome 9.7 SOST LRP5
27 bone development disease 9.7 TMEM38B SOST P3H1 LRP5
28 osteogenesis imperfecta, type iv 9.6 WNT1 TMEM38B SOST PLS3 P3H1
29 osteoporosis 9.5 WNT1 SOST PLS3 P3H1 LRP5
30 osteoporosis, juvenile 9.3 WNT1 TMEM38B SOST PLS3 P3H1 LRP5
31 osteochondrodysplasia 9.3 WNT1 TMEM38B SOST PLS3 P3H1 LRP5

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:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 30 Very rare (1%) HP:0001263
2 joint hypermobility 30 Very rare (1%) HP:0001382
3 recurrent fractures 30 Very rare (1%) HP:0002757
4 blue sclerae 30 Very rare (1%) HP:0000592
5 bowing of limbs due to multiple fractures 30 Very rare (1%) HP:0003023
6 scoliosis 30 HP:0002650
7 short stature 30 HP:0004322
8 platyspondyly 30 HP:0000926
9 cerebellar hypoplasia 30 HP:0001321
10 thin ribs 30 HP:0000883
11 hypoplasia of the pons 30 HP:0012110
12 schizencephaly 30 HP:0010636

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xv:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 CNN1 LRP5 P3H1 PLS3 SOST

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 15 28 WNT1

Anatomical Context for Osteogenesis Imperfecta, Type Xv

Organs/tissues related to Osteogenesis Imperfecta, Type Xv:

MalaCards : Bone, Brain, Hypothalamus, Pons, Cerebellum

Publications for Osteogenesis Imperfecta, Type Xv

Articles related to Osteogenesis Imperfecta, Type Xv:

(show all 11)
# Title Authors PMID Year
1
Mutations in WNT1 are a cause of osteogenesis imperfecta. 57 5
23434763 2013
2
Mutations in WNT1 cause different forms of bone fragility. 57 5
23499309 2013
3
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. 57 5
23499310 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
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene. 62
36004351 2022
10
The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV. 62
34759273 2021
11
Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype. 62
32369212 2020

Variations for Osteogenesis Imperfecta, Type Xv

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xv:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT1 NM_005430.4(WNT1):c.624+4A>G SNV Pathogenic
50258 rs387907354 GRCh37: 12:49374476-49374476
GRCh38: 12:48980693-48980693
2 WNT1 NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) SNV Pathogenic
50259 rs387907355 GRCh37: 12:49374413-49374413
GRCh38: 12:48980630-48980630
3 WNT1 NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) SNV Pathogenic
50260 rs387907356 GRCh37: 12:49375194-49375194
GRCh38: 12:48981411-48981411
4 WNT1 NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) DUP Pathogenic
50261 rs387907357 GRCh37: 12:49375255-49375256
GRCh38: 12:48981472-48981473
5 WNT1 NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) SNV Pathogenic
50262 rs387907358 GRCh37: 12:49375373-49375373
GRCh38: 12:48981590-48981590
6 WNT1 NM_005430.4(WNT1):c.1026del (p.Glu343fs) DEL Pathogenic
180210 rs727505392 GRCh37: 12:49375335-49375335
GRCh38: 12:48981552-48981552
7 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs) DUP Pathogenic
50257 rs387907353 GRCh37: 12:49375163-49375164
GRCh38: 12:48981380-48981381
8 WNT1 NM_005430.4(WNT1):c.506dup (p.Cys170fs) DUP Pathogenic
1332774 GRCh37: 12:49374347-49374348
GRCh38: 12:48980564-48980565
9 WNT1 NM_005430.4(WNT1):c.617G>A (p.Gly206Asp) SNV Likely Pathogenic
1299523 GRCh37: 12:49374465-49374465
GRCh38: 12:48980682-48980682
10 GBE1 NM_000158.4(GBE1):c.1843G>C (p.Ala615Pro) SNV Likely Pathogenic
1332751 GRCh37: 3:81584437-81584437
GRCh38: 3:81535286-81535286
11 WNT1 NM_005430.4(WNT1):c.893T>G (p.Phe298Cys) SNV Likely Pathogenic
1687618 GRCh37: 12:49375203-49375203
GRCh38: 12:48981420-48981420
12 WNT1 NM_005430.4(WNT1):c.860dup (p.His287fs) DUP Likely Pathogenic
1683629 GRCh37: 12:49375169-49375170
GRCh38: 12:48981386-48981387
13 WNT1 NM_005430.4(WNT1):c.104+4_104+44del DEL Likely Pathogenic
488347 rs1555178899 GRCh37: 12:49372540-49372580
GRCh38: 12:48978757-48978797
14 WNT1 NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) SNV Uncertain Significance
592130 rs1435433748 GRCh37: 12:49375400-49375400
GRCh38: 12:48981617-48981617
15 WNT1 NM_005430.4(WNT1):c.1060del (p.His354fs) DEL Uncertain Significance
873444 rs1233798164 GRCh37: 12:49375369-49375369
GRCh38: 12:48981586-48981586

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 canonical Wnt signaling pathway GO:0060070 9.63 WNT1 SOST LRP5
2 Wnt signaling pathway GO:0016055 9.35 WNT1 SOST RAC3 LRP5
3 bone development GO:0060348 9.28 WNT1 TMEM38B PLS3 P3H1 LRP5

Sources for Osteogenesis Imperfecta, Type Xv

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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