OI21
MCID: OST178
MIFTS: 22

Osteogenesis Imperfecta, Type Xxi (OI21)

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 Xxi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xxi:

Name: Osteogenesis Imperfecta, Type Xxi 57 29 6
Oi21 57 12
Osteogenesis Imperfecta Type Xxi 12
Osteogenesis Imperfecta Type 21 12
Osteogenesis Imperfecta 21 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prenatal fractures in some patients
wheelchair-dependence in most patients


HPO:

31
osteogenesis imperfecta, type xxi:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset fetal onset


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xxi

OMIM® : 57 Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood (van Dijk et al., 2020). (619131) (Updated 05-Mar-2021)

MalaCards based summary : Osteogenesis Imperfecta, Type Xxi, is also known as oi21. An important gene associated with Osteogenesis Imperfecta, Type Xxi is KDELR2 (KDEL Endoplasmic Reticulum Protein Retention Receptor 2). Affiliated tissues include bone, and related phenotypes are scoliosis and pes planus

Disease Ontology : 12 An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has material basis in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xxi

Human phenotypes related to Osteogenesis Imperfecta, Type Xxi:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 pes planus 31 very rare (1%) HP:0001763
3 osteoporosis 31 very rare (1%) HP:0000939
4 pectus excavatum 31 very rare (1%) HP:0000767
5 joint hypermobility 31 very rare (1%) HP:0001382
6 platyspondyly 31 very rare (1%) HP:0000926
7 wormian bones 31 very rare (1%) HP:0002645
8 coxa valga 31 very rare (1%) HP:0002673
9 coxa vara 31 very rare (1%) HP:0002812
10 disproportionate short-limb short stature 31 very rare (1%) HP:0008873
11 bell-shaped thorax 31 very rare (1%) HP:0001591
12 barrel-shaped chest 31 very rare (1%) HP:0001552
13 bowing of the legs 31 very rare (1%) HP:0002979
14 pes valgus 31 very rare (1%) HP:0008081
15 hypotonia 31 very rare (1%) HP:0001252
16 bowing of the arm 31 very rare (1%) HP:0006488
17 motor delay 31 HP:0001270
18 recurrent fractures 31 HP:0002757

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
platyspondyly
vertebral fractures

Skeletal:
reduced bone mineral density
joint hypermobility
multiple fractures, often after minor trauma

Skeletal Pelvis:
coxa valga
coxa vara

Chest External Features:
barrel-shaped chest

Skeletal Limbs:
genua valga
bowing of long bones (upper and lower extremities)
shortening of long bones (upper and lower extremities)

Skeletal Skull:
delayed mineralization
delayed closure of sutures

Muscle Soft Tissue:
muscular hypotonia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
thin ribs

Growth Height:
disproportionate short stature

Head And Neck Teeth:
dental caries
overcrowded small teeth
crumbling teeth

Skeletal Feet:
pes planovalgus

Clinical features from OMIM®:

619131 (Updated 05-Mar-2021)

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xxi

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Xxi

Genetic Tests for Osteogenesis Imperfecta, Type Xxi

Genetic tests related to Osteogenesis Imperfecta, Type Xxi:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xxi 29 KDELR2

Anatomical Context for Osteogenesis Imperfecta, Type Xxi

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Xxi

Articles related to Osteogenesis Imperfecta, Type Xxi:

# Title Authors PMID Year
1
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. 6 57
33053334 2020
2
Demineralized bone matrix scaffold modified with mRNA derived from osteogenically pre-differentiated MSCs improves bone repair. 61
33321645 2021

Variations for Osteogenesis Imperfecta, Type Xxi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xxi:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KDELR2 NM_006854.4(KDELR2):c.448dup (p.His150fs) Duplication Pathogenic 988961 7:6505857-6505858 7:6466226-6466227
2 KDELR2 NM_006854.4(KDELR2):c.34C>G (p.His12Asp) SNV Pathogenic 988962 7:6523655-6523655 7:6484024-6484024
3 KDELR2 NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu) SNV Pathogenic 988963 7:6505908-6505908 7:6466277-6466277
4 KDELR2 NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter) SNV Pathogenic 988964 7:6505946-6505946 7:6466315-6466315

Expression for Osteogenesis Imperfecta, Type Xxi

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

Pathways for Osteogenesis Imperfecta, Type Xxi

GO Terms for Osteogenesis Imperfecta, Type Xxi

Sources for Osteogenesis Imperfecta, Type Xxi

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....