OI19
MCID: OST170
MIFTS: 33

Osteogenesis Imperfecta, Type Xix (OI19)

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 Xix

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xix:

Name: Osteogenesis Imperfecta, Type Xix 57 72
Oi19 57 12 72
Osteogenesis Imperfecta, Type 19 29 6
Osteogenesis Imperfecta Type 19 12 15
Osteogenesis Imperfecta Type Xix 12
Osteogenesis Imperfecta 19 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
prenatal fractures
variable presence of scoliosis and pectus deformities
fractures may decrease in frequency after puberty


HPO:

31
osteogenesis imperfecta, type xix:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111847
OMIM® 57 301014
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013

Summaries for Osteogenesis Imperfecta, Type Xix

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 19: An X-linked 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. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia.

MalaCards based summary : Osteogenesis Imperfecta, Type Xix, also known as oi19, is related to osteogenesis imperfecta, type xiii and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Xix is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include bone and skin, and related phenotypes are scoliosis and osteopenia

Disease Ontology : 12 An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has material basis in hemizygous mutation in MBTPS2 on chromosome Xp22.12.

OMIM® : 57 Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016). (301014) (Updated 05-Apr-2021)

Related Diseases for Osteogenesis Imperfecta, Type Xix

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



Diseases related to Osteogenesis Imperfecta, Type Xix

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xix

Human phenotypes related to Osteogenesis Imperfecta, Type Xix:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 osteopenia 31 HP:0000938
3 pectus carinatum 31 HP:0000768
4 pectus excavatum 31 HP:0000767
5 recurrent fractures 31 HP:0002757
6 blue sclerae 31 HP:0000592
7 vertebral wedging 31 HP:0008422
8 severe short stature 31 HP:0003510
9 biconcave vertebral bodies 31 HP:0004586
10 rhizomelia 31 HP:0008905

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
anterior vertebral wedging
flat biconcave vertebral bodies

Growth Height:
short stature, severe

Head And Neck Eyes:
blue sclerae (uncommon)

Laboratory Abnormalities:
elevated urinary pyridinoline crosslink profile

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
rib fractures, prenatal
discontinuously 'beaded' ribs
clavicular fractures, prenatal
pectus excavatum (uncommon)

Skeletal:
generalized osteopenia
multiple fractures

Skeletal Limbs:
bowing of long bones of upper extremities
rhizomelia of upper extremities
bowing of long bones of lower extremities
rhizomelia of lower extremities
epiphyseal 'popcorn' calcification

Clinical features from OMIM®:

301014 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased ionizing radiation sensitivity GR00232-A-1 8.32 RPL21

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xix:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 ALPL BMP1 PLS3 SFRP4

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xix

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

Genetic Tests for Osteogenesis Imperfecta, Type Xix

Genetic tests related to Osteogenesis Imperfecta, Type Xix:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type 19 29 MBTPS2

Anatomical Context for Osteogenesis Imperfecta, Type Xix

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

40
Bone, Skin

Publications for Osteogenesis Imperfecta, Type Xix

Articles related to Osteogenesis Imperfecta, Type Xix:

# Title Authors PMID Year
1
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. 57 6
27380894 2016
2
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. 61
33743732 2021

Variations for Osteogenesis Imperfecta, Type Xix

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xix:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBTPS2 NM_015884.4(MBTPS2):c.1376A>G (p.Asn459Ser) SNV Pathogenic 558767 rs1555986267 GRCh37: X:21900589-21900589
GRCh38: X:21882471-21882471
2 MBTPS2 NM_015884.4(MBTPS2):c.1515G>C (p.Leu505Phe) SNV Pathogenic 558768 rs1555986287 GRCh37: X:21900728-21900728
GRCh38: X:21882610-21882610
3 MBTPS2 NM_015884.4(MBTPS2):c.175C>T (p.Arg59Cys) SNV Uncertain significance 992371 GRCh37: X:21861387-21861387
GRCh38: X:21843269-21843269

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

72
# Symbol AA change Variation ID SNP ID
1 MBTPS2 p.Asn459Ser VAR_081103 rs155598626
2 MBTPS2 p.Leu505Phe VAR_081104 rs155598628

Expression for Osteogenesis Imperfecta, Type Xix

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

Pathways for Osteogenesis Imperfecta, Type Xix

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

# Super pathways Score Top Affiliating Genes
1 10.74 SFRP4 BMP1

GO Terms for Osteogenesis Imperfecta, Type Xix

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.96 BMP1 ALPL
2 proteolysis GO:0006508 8.8 MBTPS2 CTSC BMP1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.46 MBTPS2 CTSC BMP1 ALPL
2 metalloendopeptidase activity GO:0004222 8.96 MBTPS2 BMP1
3 peptidase activity GO:0008233 8.8 MBTPS2 CTSC BMP1

Sources for Osteogenesis Imperfecta, Type Xix

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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