MCID: OST110
MIFTS: 33

Osteogenesis Imperfecta, Type Xv

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral 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 40 73
Oi15 57 12 75
Osteogenesis Imperfecta Type 15 12 15
Osteogenesis Imperfecta Type Xv 12 75
Osteogenesis Imperfecta 15 75
Oi, Type Xv 57
Oi Type Xv 75
Oi-Xv 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteogenesis imperfecta, type xv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615220
Disease Ontology 12 DOID:0110347
ICD10 33 Q78.0
MeSH 44 D010013
UMLS 73 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)

MalaCards based summary : Osteogenesis Imperfecta, Type Xv, also known as oi15, is related to acute diarrhea. 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 Synaptic vesicle cycle. 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Xv:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 global developmental delay 32 HP:0001263
3 short stature 32 HP:0004322
4 platyspondyly 32 HP:0000926
5 thin ribs 32 HP:0000883
6 blue sclerae 32 HP:0000592
7 hypoplasia of the pons 32 HP:0012110

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:

41
Bone, Brain, Hypothalamus, Pons

Publications for Osteogenesis Imperfecta, Type Xv

Variations for Osteogenesis Imperfecta, Type Xv

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

75
# 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

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xv:

6
(show all 14)
# 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 Pathogenic rs387907358 GRCh37 Chromosome 12, 49375373: 49375373
12 WNT1 NM_005430.3(WNT1): c.1063G> T (p.Val355Phe) single nucleotide variant Pathogenic 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

Expression for Osteogenesis Imperfecta, Type Xv

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

Pathways for Osteogenesis Imperfecta, Type Xv

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 ST8SIA2 STX1A WNT1
2
Show member pathways
11.02 STX1A STX2
3
Show member pathways
10.63 STX1A STX2

GO Terms for Osteogenesis Imperfecta, Type Xv

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

# Name GO ID Score Top Affiliating Genes
1 endomembrane system GO:0012505 9.16 STX1A STX2
2 synaptic vesicle GO:0008021 8.96 STX1A STX2
3 SNARE complex GO:0031201 8.62 STX1A STX2

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

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.37 STX1A STX2
2 vesicle-mediated transport GO:0016192 9.32 STX1A STX2
3 exocytosis GO:0006887 9.26 STX1A STX2
4 vesicle fusion GO:0006906 9.16 STX1A STX2
5 vesicle docking GO:0048278 8.96 STX1A STX2
6 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:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.26 STX1A WNT1
2 calcium-dependent protein binding GO:0048306 9.16 STX1A STX2
3 SNARE binding GO:0000149 8.96 STX1A STX2
4 SNAP receptor activity GO:0005484 8.62 STX1A STX2

Sources for Osteogenesis Imperfecta, Type Xv

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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