OI18
MCID: OST169
MIFTS: 31

Osteogenesis Imperfecta, Type Xviii (OI18)

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 Xviii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xviii:

Name: Osteogenesis Imperfecta, Type Xviii 57 12 72
Oi18 57 12 72
Osteogenesis Imperfecta, Type 18 29 6
Osteogenesis Imperfecta Type 18 12 15
Osteogenesis Imperfecta 18 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type xviii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xviii

UniProtKB/Swiss-Prot : 72 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, also known as oi18, is related to osteogenesis imperfecta, type xv and osteogenesis imperfecta, type xii. An important gene associated with Osteogenesis Imperfecta, Type Xviii is TENT5A (Terminal Nucleotidyltransferase 5A). Affiliated tissues include cortex, and related phenotypes are abnormality of the dentition and umbilical hernia

Disease Ontology : 12 An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has material basis in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.

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) (Updated 05-Apr-2021)

Related Diseases for Osteogenesis Imperfecta, Type Xviii

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



Diseases related to Osteogenesis Imperfecta, Type Xviii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xviii

Human phenotypes related to Osteogenesis Imperfecta, Type Xviii:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 very rare (1%) HP:0000164
2 umbilical hernia 31 very rare (1%) HP:0001537
3 recurrent fractures 31 very rare (1%) HP:0002757
4 wormian bones 31 very rare (1%) HP:0002645
5 blue sclerae 31 very rare (1%) HP:0000592
6 femoral bowing 31 very rare (1%) HP:0002980
7 wide nasal bridge 31 HP:0000431
8 delayed speech and language development 31 HP:0000750
9 micrognathia 31 HP:0000347
10 motor delay 31 HP:0001270
11 joint laxity 31 HP:0001388
12 joint hypermobility 31 HP:0001382
13 broad forehead 31 HP:0000337
14 long eyelashes 31 HP:0000527
15 thin ribs 31 HP:0000883
16 biconcave vertebral bodies 31 HP:0004586
17 vertebral compression fractures 31 HP:0002953
18 generalized osteoporosis 31 HP:0040160
19 thin bony cortex 31 HP:0002753

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
micrognathia
high broad forehead
grooved philtrum

Skeletal Skull:
wormian bones

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
clavicular fractures

Head And Neck Nose:
broad nasal root

Abdomen External Features:
umbilical hernia (rare)

Head And Neck Teeth:
abnormal teeth (rare)

Skeletal Limbs:
joint laxity
bowing of long bones

Head And Neck Eyes:
blue sclerae
long eyelashes

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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Xviii according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.68 CTSC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.68 FECH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.68 CTSC KRT6B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.68 FECH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.68 CTSC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.68 FECH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.68 NR1H4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.68 CTSC FECH KRT6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-162 9.68 FECH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.68 FECH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.68 CTSC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.68 CTSC
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.68 KRT6B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.68 NR1H4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.68 KRT6B
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.68 KRT6B
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.68 CTSC KRT6B
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.68 FECH
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.68 FECH

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xviii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CA2 CTSC FECH KDM4D KRT6B MAPK7
2 immune system MP:0005387 9.32 CA2 CTSC FECH LCK MCL1 MT-CO1

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 18 29 TENT5A

Anatomical Context for Osteogenesis Imperfecta, Type Xviii

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

40
Cortex

Publications for Osteogenesis Imperfecta, Type Xviii

Articles related to Osteogenesis Imperfecta, Type Xviii:

# Title Authors PMID Year
1
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. 57 6
29358272 2018
2
Results and complications of a surgical technique for correction of coxa vara in children with osteopenic bones. 61
19034168 2008

Variations for Osteogenesis Imperfecta, Type Xviii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xviii:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TENT5A NM_017633.3(TENT5A):c.610_611AT[3] (p.Ser205fs) Microsatellite Pathogenic 523121 rs1554200383 GRCh37: 6:82460127-82460128
GRCh38: 6:81750410-81750411
2 TENT5A NM_017633.3(TENT5A):c.380A>G (p.His127Arg) SNV Pathogenic 523122 rs1187611948 GRCh37: 6:82461479-82461479
GRCh38: 6:81751762-81751762
3 TENT5A NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly) SNV Pathogenic 523123 rs1554200371 GRCh37: 6:82460049-82460049
GRCh38: 6:81750332-81750332
4 TENT5A NM_017633.3(TENT5A):c.790G>T (p.Val264Phe) SNV Uncertain significance 1029627 GRCh37: 6:82459951-82459951
GRCh38: 6:81750234-81750234

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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 8.62 MCL1 MAPK7

Sources for Osteogenesis Imperfecta, Type Xviii

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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