OI20
MCID: OST176
MIFTS: 25

Osteogenesis Imperfecta, Type Xx (OI20)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xx

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xx:

Name: Osteogenesis Imperfecta, Type Xx 56 73
Oi20 56 12 73
Osteogenesis Imperfecta, Type 20 29 6
Osteogenesis Imperfecta Type 20 12
Osteogenesis Imperfecta Type Xx 12
Osteogenesis Imperfecta 20 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
shortened and bowed long bones may be observed on prenatal ultrasound
death due to respiratory failure has occurred in some patients


Classifications:



External Ids:

Disease Ontology 12 DOID:0111849
OMIM 56 618644
OMIM Phenotypic Series 56 PS166200
MeSH 43 D010013
MedGen 41 CN262534
UMLS 71 CN262534

Summaries for Osteogenesis Imperfecta, Type Xx

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 20: 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. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients.

MalaCards based summary : Osteogenesis Imperfecta, Type Xx, is also known as oi20. An important gene associated with Osteogenesis Imperfecta, Type Xx is MESD (Mesoderm Development LRP Chaperone). Affiliated tissues include bone and eye.

Disease Ontology : 12 An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has material basis in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.

OMIM : 56 Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019). (618644)

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xx

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
narrow palate
high-arched palate
tented upper lip

Skeletal Skull:
microcephaly
brachycephaly
wormian bones
plagiocephaly
soft calvarial bones

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears
posteriorly rotated ears
prominent ears
crumpled ears

Skeletal Spine:
vertebral compression fractures
kyphoscoliosis, progressive

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal Feet:
overlapping toes

Head And Neck Eyes:
prominent eyes
arched eyebrows
sparse lateral eyebrows
blue sclerae (in some patients, diminishes with age)

Head And Neck Teeth:
missing teeth
disorganized dentition

Abdomen Gastrointestinal:
feeding difficulties (in some patients) <pt1pt5

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly
sparse hair
relative macrocephaly (in 1 patient)

Growth Height:
short stature

Head And Neck Face:
retrognathia
pointed chin
midface hypoplasia
prognathism, progressive

Skeletal Limbs:
rhizomelia
limited knee extension
bowing of limbs

Skeletal Hands:
long fingers
adducted thumbs
contractures of 2nd and 3rd fingers, bilateral

Head And Neck Nose:
small nose
bulbous tip

Chest External Features:
narrow thorax
asymmetric thorax

Skeletal:
generalized osteopenia
multiple fractures (at birth and postnatally)

Chest Ribs Sternum Clavicles And Scapulae:
multiple rib fractures (at birth and postnatally)
fractured clavicle

Neurologic Central Nervous System:
delayed gross motor function
global developmental delay (in 1 patient)
speech delay (in 1 patient)

Clinical features from OMIM:

618644

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xx

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

Genetic Tests for Osteogenesis Imperfecta, Type Xx

Genetic tests related to Osteogenesis Imperfecta, Type Xx:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type 20 29

Anatomical Context for Osteogenesis Imperfecta, Type Xx

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

40
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Xx

Articles related to Osteogenesis Imperfecta, Type Xx:

(show all 18)
# Title Authors PMID Year
1
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 6 56
31564437 2019
2
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
3
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
4
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
5
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
6
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
7
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
8
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
9
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
10
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
11
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
12
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 6
8669434 1996
13
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
14
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
15
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
16
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
17
Tilting structures in inverse perovskites, M3TtO (M = Ca, Sr, Ba, Eu; Tt = Si, Ge, Sn, Pb). 61
26027006 2015
18
Isolated infinity1[ZnPn2]4- chains in the Zintl phases Ba2ZnPn2 (Pn = As, Sb, Bi)--synthesis, structure, and bonding. 61
20426404 2010

Variations for Osteogenesis Imperfecta, Type Xx

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xx:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MESD NM_015154.3(MESD):c.632dup (p.Lys212fs)duplication Pathogenic 692262 15:81271632-81271633 15:80979291-80979292
2 MESD NM_015154.3(MESD):c.676C>T (p.Arg226Ter)SNV Pathogenic 692263 15:81271589-81271589 15:80979248-80979248
3 MESD NM_015154.3(MESD):c.631_632del (p.Lys211fs)deletion Pathogenic 692264 15:81271633-81271634 15:80979292-80979293
4 MESD NM_015154.3(MESD):c.607_611del (p.Thr203fs)deletion Pathogenic 692265 15:81271654-81271658 15:80979313-80979317

Expression for Osteogenesis Imperfecta, Type Xx

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

Pathways for Osteogenesis Imperfecta, Type Xx

GO Terms for Osteogenesis Imperfecta, Type Xx

Sources for Osteogenesis Imperfecta, Type Xx

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....