OI16
MCID: OST139
MIFTS: 26

Osteogenesis Imperfecta, Type Xvi (OI16)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xvi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xvi:

Name: Osteogenesis Imperfecta, Type Xvi 58 30 6 74
Oi16 58 12 76
Oi, Type Xvi 58 76
Chromosome 11p11.2 Deletion Syndrome, 91.3-Kb 76
Chromosome 11p11.2 Deletion Syndrome 91.3-Kb 12
Osteogenesis Imperfecta Type Xvi 12
Osteogenesis Imperfecta Type 16 12
Osteogenesis Imperfecta 16 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
heterozygotes may exhibit a mild form of the disorder
contiguous gene syndrome caused by deletion of 91.3kb on chromosome 11p11.2 involving the creb3l1 and dgkz genes


HPO:

33
osteogenesis imperfecta, type xvi:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110345
OMIM 58 616229
MeSH 45 D010013
ICD10 34 Q78.0
UMLS 74 C4015610

Summaries for Osteogenesis Imperfecta, Type Xvi

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 16: 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. OI16 is a severe form.

MalaCards based summary : Osteogenesis Imperfecta, Type Xvi, is also known as oi16. An important gene associated with Osteogenesis Imperfecta, Type Xvi is CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1). Affiliated tissues include bone and skin, and related phenotypes are hearing impairment and small for gestational age

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.

OMIM : 58 Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018). (616229)

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xvi

Human phenotypes related to Osteogenesis Imperfecta, Type Xvi:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 small for gestational age 33 HP:0001518
3 beaded ribs 33 HP:0000923

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia

Head And Neck Eyes:
blue sclerae

Skeletal Spine:
vertebral compression fractures

Chest Ribs Sternum Clavicles And Scapulae:
beaded ribs
rib fractures
callus formation

Head And Neck Ears:
conductive hearing loss (in 1 heterozygote)

Skin Nails Hair Skin:
soft velvety skin (in some heterozygotes)

Growth Height:
short stature

Growth Other:
small for gestational age

Skeletal Limbs:
rhizomelic limb shortening
mesomelic limb shortening
bowing of lower extremities
small joint hypermobility
bowing of upper extremities
more
Skeletal Skull:
widely open fontanels
soft calvarial bones

Head And Neck Teeth:
tooth agenesis

Clinical features from OMIM:

616229

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xvi

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Osseointegration of THA Grafted by PolyNASS (ACTISURF-CERAFIT® ) Versus Non-grafted THA (CERAFIT® Recruiting NCT03113981 Not Applicable

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Xvi

Genetic Tests for Osteogenesis Imperfecta, Type Xvi

Genetic tests related to Osteogenesis Imperfecta, Type Xvi:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xvi 30 CREB3L1

Anatomical Context for Osteogenesis Imperfecta, Type Xvi

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

42
Bone, Skin

Publications for Osteogenesis Imperfecta, Type Xvi

Variations for Osteogenesis Imperfecta, Type Xvi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xvi:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CREB3L1 NM_052854.3(CREB3L1): c.934_936delAAG (p.Lys312del) deletion Pathogenic rs1555222973 GRCh38 Chromosome 11, 46312642: 46312644
2 CREB3L1 NM_052854.3(CREB3L1): c.934_936delAAG (p.Lys312del) deletion Pathogenic rs1555222973 GRCh37 Chromosome 11, 46334193: 46334195
3 CREB3L1 NM_052854.3(CREB3L1): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs779809838 GRCh38 Chromosome 11, 46320289: 46320289
4 CREB3L1 NM_052854.3(CREB3L1): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs779809838 GRCh37 Chromosome 11, 46341840: 46341840

Expression for Osteogenesis Imperfecta, Type Xvi

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

Pathways for Osteogenesis Imperfecta, Type Xvi

GO Terms for Osteogenesis Imperfecta, Type Xvi

Sources for Osteogenesis Imperfecta, Type Xvi

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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