OI16
MCID: OST139
MIFTS: 29

Osteogenesis Imperfecta, Type Xvi (OI16)

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 Xvi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xvi:

Name: Osteogenesis Imperfecta, Type Xvi 57 29 6 70
Oi16 57 12 72
Osteogenesis Imperfecta Type 16 12 15
Oi, Type Xvi 57 72
Chromosome 11p11.2 Deletion Syndrome, 91.3-Kb 72
Chromosome 11p11.2 Deletion Syndrome 91.3-Kb 12
Osteogenesis Imperfecta Type Xvi 12
Osteogenesis Imperfecta 16 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
osteogenesis imperfecta, type xvi:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110345
OMIM® 57 616229
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
UMLS 70 C4015610

Summaries for Osteogenesis Imperfecta, Type Xvi

UniProtKB/Swiss-Prot : 72 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, also known as oi16, is related to osteogenesis imperfecta, type xv and osteogenesis imperfecta, type xii. An important gene associated with Osteogenesis Imperfecta, Type Xvi is CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1), and among its related pathways/superpathways is TCR signaling (REACTOME). Related phenotypes are osteopenia and hearing impairment

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) (Updated 05-Apr-2021)

Related Diseases for Osteogenesis Imperfecta, Type Xvi

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



Diseases related to Osteogenesis Imperfecta, Type Xvi

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xvi

Human phenotypes related to Osteogenesis Imperfecta, Type Xvi:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 hearing impairment 31 HP:0000365
3 joint hypermobility 31 HP:0001382
4 conductive hearing impairment 31 HP:0000405
5 reduced number of teeth 31 HP:0009804
6 blue sclerae 31 HP:0000592
7 rhizomelia 31 HP:0008905
8 small for gestational age 31 HP:0001518
9 vertebral compression fractures 31 HP:0002953
10 mesomelia 31 HP:0003027
11 beaded ribs 31 HP:0000923

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia

Head And Neck Eyes:
blue sclerae

Skeletal Spine:
vertebral compression fractures

Skeletal Limbs:
rhizomelic limb shortening
mesomelic limb shortening
bowing of lower extremities
bowing of upper extremities
small joint hypermobility
more
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

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

Skeletal Skull:
widely open fontanels
soft calvarial bones

Head And Neck Teeth:
tooth agenesis

Clinical features from OMIM®:

616229 (Updated 05-Apr-2021)

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xvi

Search Clinical Trials , 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

Publications for Osteogenesis Imperfecta, Type Xvi

Articles related to Osteogenesis Imperfecta, Type Xvi:

# Title Authors PMID Year
1
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. 57 6
30657919 2019
2
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy. 57 6
29936144 2018
3
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. 57 6
28817112 2018
4
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. 57
24079343 2013

Variations for Osteogenesis Imperfecta, Type Xvi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xvi:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CREB3L1 NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter) SNV Pathogenic 559484 rs779809838 GRCh37: 11:46341840-46341840
GRCh38: 11:46320289-46320289
2 CREB3L1 NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val) SNV Pathogenic 982569 GRCh37: 11:46334170-46334170
GRCh38: 11:46312619-46312619
3 CREB3L1 NM_052854.4(CREB3L1):c.928_930AAG[2] (p.Lys312del) Microsatellite Pathogenic 559483 rs1555222973 GRCh37: 11:46334187-46334189
GRCh38: 11:46312636-46312638
4 CREB3L1 NM_052854.4(CREB3L1):c.774del (p.Pro259fs) Deletion Likely pathogenic 930601 GRCh37: 11:46333894-46333894
GRCh38: 11:46312343-46312343
5 CREB3L1 NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg) SNV Uncertain significance 432652 rs747612049 GRCh37: 11:46329523-46329523
GRCh38: 11:46307972-46307972
6 CREB3L1 NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) SNV Uncertain significance 710354 rs187725533 GRCh37: 11:46332586-46332586
GRCh38: 11:46311035-46311035

Expression for Osteogenesis Imperfecta, Type Xvi

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

Pathways for Osteogenesis Imperfecta, Type Xvi

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 VASP PSMD5 LCK

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
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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