OI18
MCID: OST169
MIFTS: 24

Osteogenesis Imperfecta, Type Xviii (OI18)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Xviii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xviii:

Name: Osteogenesis Imperfecta, Type Xviii 57 75 29 6
Oi18 57 75
Osteogenesis Imperfecta 18 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteogenesis imperfecta, type xviii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xviii

UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 18: 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. OI18 is a severe form characterized by congenital bowing of the lower limb, wormian bones, blue sclerae, vertebral collapses and multiple fractures in the first years of life.

MalaCards based summary : Osteogenesis Imperfecta, Type Xviii, is also known as oi18. An important gene associated with Osteogenesis Imperfecta, Type Xviii is TENT5A (Terminal Nucleotidyltransferase 5A). Affiliated tissues include bone, cortex and eye, and related phenotypes are delayed speech and language development and umbilical hernia

OMIM : 57 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018). (617952)

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xviii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
high broad forehead
grooved philtrum

Skeletal Limbs:
joint laxity
bowing of long bones

Head And Neck Eyes:
long eyelashes
blue sclerae

Head And Neck Nose:
broad nasal root

Abdomen External Features:
umbilical hernia (rare)

Head And Neck Teeth:
abnormal teeth (rare)

Skeletal Skull:
wormian bones

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
clavicular fractures

Skeletal Spine:
vertebral collapse
codfish vertebrae

Neurologic Central Nervous System:
motor developmental delay
speech delay

Skeletal:
multiple spontaneous fractures
poor mineralization
thin cortex of bones


Clinical features from OMIM:

617952

Human phenotypes related to Osteogenesis Imperfecta, Type Xviii:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 umbilical hernia 32 very rare (1%) HP:0001537
3 micrognathia 32 HP:0000347
4 wormian bones 32 very rare (1%) HP:0002645
5 motor delay 32 HP:0001270
6 joint laxity 32 HP:0001388
7 broad forehead 32 HP:0000337
8 thin ribs 32 HP:0000883
9 joint hypermobility 32 HP:0001382
10 recurrent fractures 32 very rare (1%) HP:0002757
11 long eyelashes 32 HP:0000527
12 blue sclerae 32 very rare (1%) HP:0000592
13 femoral bowing 32 very rare (1%) HP:0002980
14 biconcave vertebral bodies 32 HP:0004586
15 vertebral compression fractures 32 HP:0002953
16 thin bony cortex 32 HP:0002753
17 generalized osteoporosis 32 HP:0040160

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xviii

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

Genetic Tests for Osteogenesis Imperfecta, Type Xviii

Genetic tests related to Osteogenesis Imperfecta, Type Xviii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xviii 29 TENT5A

Anatomical Context for Osteogenesis Imperfecta, Type Xviii

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

41
Bone, Cortex, Eye

Publications for Osteogenesis Imperfecta, Type Xviii

Variations for Osteogenesis Imperfecta, Type Xviii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xviii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TENT5A NM_017633.2(TENT5A): c.612_613dup (p.Ser205Tyrfs) duplication Pathogenic GRCh38 Chromosome 6, 81750411: 81750412
2 TENT5A NM_017633.2(TENT5A): c.612_613dup (p.Ser205Tyrfs) duplication Pathogenic GRCh37 Chromosome 6, 82460128: 82460129
3 TENT5A NM_017633.2(TENT5A): c.380A> G (p.His127Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 82461479: 82461479
4 TENT5A NM_017633.2(TENT5A): c.380A> G (p.His127Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 81751762: 81751762
5 TENT5A NM_017633.2(TENT5A): c.692A> G (p.Asp231Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 81750332: 81750332
6 TENT5A NM_017633.2(TENT5A): c.692A> G (p.Asp231Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 82460049: 82460049

Expression for Osteogenesis Imperfecta, Type Xviii

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

Pathways for Osteogenesis Imperfecta, Type Xviii

GO Terms for Osteogenesis Imperfecta, Type Xviii

Sources for Osteogenesis Imperfecta, Type Xviii

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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