OI14
MCID: OST109
MIFTS: 32

Osteogenesis Imperfecta, Type Xiv (OI14)

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 Xiv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xiv:

Name: Osteogenesis Imperfecta, Type Xiv 57 29 13 6 39 70
Oi14 57 12 72
Osteogenesis Imperfecta Type Xiv 12 72
Osteogenesis Imperfecta Type 14 12 15
Osteogenesis Imperfecta 14 72
Oi, Type Xiv 57
Oi Type Xiv 72
Oi-Xiv 72

Characteristics:

HPO:

31
osteogenesis imperfecta, type xiv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110343
OMIM® 57 615066
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
UMLS 70 C3554428

Summaries for Osteogenesis Imperfecta, Type Xiv

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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. (615066) (Updated 05-Apr-2021)

MalaCards based summary : Osteogenesis Imperfecta, Type Xiv, also known as oi14, is related to osteogenesis imperfecta, type xi and ciliary dyskinesia, primary, 2. An important gene associated with Osteogenesis Imperfecta, Type Xiv is TMEM38B (Transmembrane Protein 38B). Affiliated tissues include bone, and related phenotypes are scoliosis and osteopenia

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the TMEM38B gene on chromosome 9q31.

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 14: 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. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.

Related Diseases for Osteogenesis Imperfecta, Type Xiv

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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xi 10.0 MNS1 DNAH9
2 ciliary dyskinesia, primary, 2 9.8 DNAH9 DNAH5
3 right atrial isomerism 9.7 DNAH9 DNAH5
4 dextrocardia with situs inversus 9.7 MNS1 DNAH9 CFAP53
5 ciliary dyskinesia, primary, 8 9.7 ODAD3 DNAH5
6 ciliary dyskinesia, primary, 4 9.6 ODAD3 DNAH5
7 dextrocardia 9.4 ODAD3 DNAH5 CFAP53
8 male infertility 9.4 MNS1 DNAH9 DNAH5
9 ciliary dyskinesia, primary, 1 9.3 ODAD3 DNAH9 DNAH5
10 situs inversus 8.9 ODAD3 MNS1 DNAH9 DNAH5 CFAP53
11 visceral heterotaxy 8.9 ODAD3 MNS1 DNAH9 DNAH5 CFAP53
12 kartagener syndrome 8.9 ODAD3 MNS1 DNAH9 DNAH5 CFAP53
13 primary ciliary dyskinesia 8.9 ODAD3 MNS1 DNAH9 DNAH5 CFAP53

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



Diseases related to Osteogenesis Imperfecta, Type Xiv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiv

Human phenotypes related to Osteogenesis Imperfecta, Type Xiv:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 osteopenia 31 very rare (1%) HP:0000938
3 global developmental delay 31 very rare (1%) HP:0001263
4 sensorineural hearing impairment 31 very rare (1%) HP:0000407
5 short stature 31 very rare (1%) HP:0004322
6 motor delay 31 very rare (1%) HP:0001270
7 recurrent fractures 31 very rare (1%) HP:0002757
8 blue sclerae 31 very rare (1%) HP:0000592
9 femoral bowing 31 very rare (1%) HP:0002980

Clinical features from OMIM®:

615066 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xiv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 CFAP53 DNAH5 MNS1 ODAD3 TMEM38B

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xiv

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

Genetic Tests for Osteogenesis Imperfecta, Type Xiv

Genetic tests related to Osteogenesis Imperfecta, Type Xiv:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xiv 29 TMEM38B

Anatomical Context for Osteogenesis Imperfecta, Type Xiv

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Xiv

Articles related to Osteogenesis Imperfecta, Type Xiv:

# Title Authors PMID Year
1
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. 57 6
23316006 2013
2
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 6 57
23054245 2012
3
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
4
Demineralized bone matrix scaffold modified with mRNA derived from osteogenically pre-differentiated MSCs improves bone repair. 61
33321645 2021
5
Copper binding to plant ozone-inducible proteins (OI2-2 and OI14-3). 61
14741723 2004

Variations for Osteogenesis Imperfecta, Type Xiv

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM38B NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA Indel Pathogenic 39494 GRCh37: 9:108484281-108505262
GRCh38: 9:105722000-105742981
2 TMEM38B NM_018112.3(TMEM38B):c.875A>G (p.Ter292=) SNV Pathogenic 1029512 GRCh37: 9:108536360-108536360
GRCh38: 9:105774079-105774079
3 TMEM38B NM_018112.3(TMEM38B):c.543-10T>G SNV Uncertain significance 1029513 GRCh37: 9:108510344-108510344
GRCh38: 9:105748063-105748063
4 TMEM38B NM_018112.3(TMEM38B):c.661-8del Deletion Uncertain significance 931131 GRCh37: 9:108536133-108536133
GRCh38: 9:105773852-105773852

Expression for Osteogenesis Imperfecta, Type Xiv

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

Pathways for Osteogenesis Imperfecta, Type Xiv

GO Terms for Osteogenesis Imperfecta, Type Xiv

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.71 ODAD3 DNAH9 DNAH5 CFAP53
2 motile cilium GO:0031514 9.5 MNS1 DNAH9 DNAH5
3 dynein complex GO:0030286 9.37 DNAH9 DNAH5
4 9+2 motile cilium GO:0097729 9.26 DNAH9 DNAH5
5 cilium GO:0005929 9.26 ODAD3 DNAH9 DNAH5 CFAP53
6 outer dynein arm GO:0036157 9.16 DNAH9 DNAH5
7 axoneme GO:0005930 8.92 ODAD3 MNS1 DNAH9 DNAH5

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.26 DNAH9 DNAH5
2 outer dynein arm assembly GO:0036158 9.16 ODAD3 DNAH5
3 determination of left/right symmetry GO:0007368 9.13 ODAD3 DNAH5 CFAP53
4 cilium movement GO:0003341 8.92 ODAD3 DNAH9 DNAH5 CFAP53

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

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.32 DNAH9 DNAH5
2 microtubule motor activity GO:0003777 9.26 DNAH9 DNAH5
3 dynein intermediate chain binding GO:0045505 9.16 DNAH9 DNAH5
4 dynein light intermediate chain binding GO:0051959 8.96 DNAH9 DNAH5
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DNAH9 DNAH5

Sources for Osteogenesis Imperfecta, Type Xiv

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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