OI19
MCID: OST170
MIFTS: 20

Osteogenesis Imperfecta, Type Xix (OI19)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xix

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xix:

Name: Osteogenesis Imperfecta, Type Xix 58 76 6
Oi19 58 76
Osteogenesis Imperfecta 19 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xix

UniProtKB/Swiss-Prot : 76 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, is also known as oi19. An important gene associated with Osteogenesis Imperfecta, Type Xix is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include bone, and related phenotypes are pectus excavatum and osteopenia

OMIM : 58 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)

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xix

Human phenotypes related to Osteogenesis Imperfecta, Type Xix:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 osteopenia 33 HP:0000938
3 scoliosis 33 HP:0002650
4 pectus carinatum 33 HP:0000768
5 rhizomelia 33 HP:0008905
6 recurrent fractures 33 HP:0002757
7 vertebral wedging 33 HP:0008422
8 biconcave vertebral bodies 33 HP:0004586

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Osteogenesis Imperfecta, Type Xix

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

42
Bone

Publications for Osteogenesis Imperfecta, Type Xix

Variations for Osteogenesis Imperfecta, Type Xix

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

76
# Symbol AA change Variation ID SNP ID
1 MBTPS2 p.Asn459Ser VAR_081103
2 MBTPS2 p.Leu505Phe VAR_081104

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xix:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBTPS2 NM_015884.3(MBTPS2): c.1376A> G (p.Asn459Ser) single nucleotide variant Pathogenic rs1555986267 GRCh37 Chromosome X, 21900589: 21900589
2 MBTPS2 NM_015884.3(MBTPS2): c.1376A> G (p.Asn459Ser) single nucleotide variant Pathogenic rs1555986267 GRCh38 Chromosome X, 21882471: 21882471
3 MBTPS2 NM_015884.3(MBTPS2): c.1515G> C (p.Leu505Phe) single nucleotide variant Pathogenic rs1555986287 GRCh38 Chromosome X, 21882610: 21882610
4 MBTPS2 NM_015884.3(MBTPS2): c.1515G> C (p.Leu505Phe) single nucleotide variant Pathogenic rs1555986287 GRCh37 Chromosome X, 21900728: 21900728

Expression for Osteogenesis Imperfecta, Type Xix

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

Pathways for Osteogenesis Imperfecta, Type Xix

GO Terms for Osteogenesis Imperfecta, Type Xix

Sources for Osteogenesis Imperfecta, Type Xix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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