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 57 29 6 73
Oi16 57 12 75
Oi, Type Xvi 57 75
Chromosome 11p11.2 Deletion Syndrome, 91.3-Kb 75
Chromosome 11p11.2 Deletion Syndrome 91.3-Kb 12
Osteogenesis Imperfecta Type Xvi 12
Osteogenesis Imperfecta Type 16 12
Osteogenesis Imperfecta 16 75

Characteristics:

OMIM:

57
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:

32
osteogenesis imperfecta, type xvi:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616229
Disease Ontology 12 DOID:0110345
ICD10 33 Q78.0
MeSH 44 D010013
UMLS 73 C4015610

Summaries for Osteogenesis Imperfecta, Type Xvi

UniProtKB/Swiss-Prot : 75 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, skin and eye, 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 : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Xvi:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 small for gestational age 32 HP:0001518
3 beaded ribs 32 HP:0000923

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 29 CREB3L1

Anatomical Context for Osteogenesis Imperfecta, Type Xvi

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

41
Bone, Skin, Eye

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_936del (p.Lys312del) deletion Pathogenic GRCh38 Chromosome 11, 46312642: 46312644
2 CREB3L1 NM_052854.3(CREB3L1): c.934_936del (p.Lys312del) deletion Pathogenic 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 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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