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 57 6
Oi19 57

Characteristics:

OMIM:

57
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

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)

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 eye, and related phenotypes are pectus excavatum and osteopenia

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xix

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Xix:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 osteopenia 32 HP:0000938
3 scoliosis 32 HP:0002650
4 pectus carinatum 32 HP:0000768
5 rhizomelia 32 HP:0008905
6 recurrent fractures 32 HP:0002757
7 vertebral wedging 32 HP:0008422
8 biconcave vertebral bodies 32 HP:0004586

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:

41
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Xix

Variations for Osteogenesis Imperfecta, Type Xix

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 GRCh37 Chromosome X, 21900589: 21900589
2 MBTPS2 NM_015884.3(MBTPS2): c.1376A> G (p.Asn459Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 21882471: 21882471
3 MBTPS2 NM_015884.3(MBTPS2): c.1515G> C (p.Leu505Phe) single nucleotide variant Pathogenic GRCh38 Chromosome X, 21882610: 21882610
4 MBTPS2 NM_015884.3(MBTPS2): c.1515G> C (p.Leu505Phe) single nucleotide variant Pathogenic 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 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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