MCID: OST109
MIFTS: 25

Osteogenesis Imperfecta, Type Xiv

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral 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 40 73
Oi14 57 12 75
Osteogenesis Imperfecta Type Xiv 12 75
Osteogenesis Imperfecta Type 14 12 15
Osteogenesis Imperfecta 14 75
Oi, Type Xiv 57
Oi Type Xiv 75
Oi-Xiv 75

Characteristics:

HPO:

32
osteogenesis imperfecta, type xiv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615066
Disease Ontology 12 DOID:0110343
ICD10 33 Q78.0
MeSH 44 D010013
UMLS 73 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)

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

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Osteogenesis Imperfecta, Type Xiv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xiv

Clinical features from OMIM:

615066

Human phenotypes related to Osteogenesis Imperfecta, Type Xiv:

32
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 recurrent fractures 32 HP:0002757

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xiv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.13 CHD7 TMEM38B WNT1
2 respiratory system MP:0005388 8.8 CHD7 TMEM38B WNT1

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:

41
Bone

Publications for Osteogenesis Imperfecta, Type Xiv

Variations for Osteogenesis Imperfecta, Type Xiv

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

75
# Symbol AA change Variation ID SNP ID
1 WNT1 p.Glu123Asp VAR_079407
2 WNT1 p.Cys153Gly VAR_079408

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xiv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM38B NG_032971.1: g.32476_53457del20982insAATTAAGGTATA indel Pathogenic GRCh37 Chromosome 9, 108484281: 108505262
2 TMEM38B NG_032971.1: g.32476_53457del20982insAATTAAGGTATA indel Pathogenic GRCh38 Chromosome 9, 105722000: 105742981

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

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

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 8.62 CHD7 WNT1

Sources for Osteogenesis Imperfecta, Type Xiv

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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