OI7
MCID: OST119
MIFTS: 37

Osteogenesis Imperfecta, Type Vii (OI7)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii 56 13
Osteogenesis Imperfecta Type Vii 12 52 73 39 71
Osteogenesis Imperfecta Type 7 12 29 6 15
Oi7 56 12 73
Oi Type Vii 52 73
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive 73
Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly 56
Osteogenesis Imperfecta Type Ii Autosomal Recessive 73
Osteogenesis Imperfecta, Type Iib, Formerly 56
Osteogenesis Imperfecta Type Iib 73
Osteogenesis Imperfecta 7 73
Oi2b, Formerly 56
Oi, Type Vii 56
Oi Type Iib 73
Oi Type 7 52
Oi-Iib 73
Oi-Vii 73
Oi2b 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
multiple fractures present at birth
death in infancy secondary to respiratory insufficiency/pneumonia
fracture frequency decreased post puberty


HPO:

31
osteogenesis imperfecta, type vii:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 7: A 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. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.

MalaCards based summary : Osteogenesis Imperfecta, Type Vii, also known as osteogenesis imperfecta type vii, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein). Affiliated tissues include bone, and related phenotypes are scoliosis and osteopenia

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the CRTAP gene on chromosome 3p22.

OMIM : 56 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). (610682)

Related Diseases for Osteogenesis Imperfecta, Type Vii

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



Diseases related to Osteogenesis Imperfecta, Type Vii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 osteopenia 31 HP:0000938
3 pectus excavatum 31 HP:0000767
4 protrusio acetabuli 31 HP:0003179
5 hydronephrosis 31 HP:0000126
6 long philtrum 31 HP:0000343
7 recurrent fractures 31 HP:0002757
8 proptosis 31 HP:0000520
9 narrow chest 31 HP:0000774
10 micromelia 31 HP:0002983
11 round face 31 HP:0000311
12 wormian bones 31 HP:0002645
13 coxa vara 31 HP:0002812
14 blue sclerae 31 HP:0000592
15 wide anterior fontanel 31 HP:0000260
16 delayed cranial suture closure 31 HP:0000270
17 decreased calvarial ossification 31 HP:0005474
18 rhizomelia 31 HP:0008905
19 multiple rib fractures 31 HP:0006640
20 vertebral compression fractures 31 HP:0002953
21 crumpled long bones 31 HP:0006367
22 bowing of the legs 31 HP:0002979
23 breech presentation 31 HP:0001623
24 wide cranial sutures 31 HP:0010537
25 multiple prenatal fractures 31 HP:0005855
26 absent pulmonary artery 31 HP:0004960
27 externally rotated/abducted legs 31 HP:0003783
28 hypoplastic pulmonary veins 31 HP:0005304

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
vertebral compression fractures

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
multiple rib fractures

Head And Neck Face:
long philtrum
round face

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta

Skeletal:
osteopenia
multiple fractures present at birth
moderate-severe bone fragility

Genitourinary Kidneys:
hydronephrosis

Head And Neck Eyes:
proptosis
bluish sclerae

Skeletal Limbs:
micromelia
rhizomelia
crumpled long bones
externally rotated/abducted legs
bowed lower limbs
more
Skeletal Pelvis:
coxa vara
protrusio acetabulae

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Clinical features from OMIM:

610682

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.8 HLX PPL TNFSF15

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

Genetic Tests for Osteogenesis Imperfecta, Type Vii

Genetic tests related to Osteogenesis Imperfecta, Type Vii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 7 29 CRTAP

Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

(show all 25)
# Title Authors PMID Year
1
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. 61 56 6
12110406 2002
2
CRTAP mutation in a patient with Cole-Carpenter syndrome. 6 56
25604815 2015
3
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. 6 56
21955071 2012
4
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 56 6
23054245 2012
5
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. 6 56
17192541 2006
6
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. 6 56
17055431 2006
7
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. 61 56
12110407 2002
8
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
9
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
10
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
11
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
12
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
13
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
14
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
15
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
16
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
17
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
18
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
19
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
20
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
21
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
22
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
23
Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. 61
32133710 2020
24
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. 61
19895918 2010
25
Intravenous pamidronate in osteogenesis imperfecta type VII. 61
19137231 2009

Variations for Osteogenesis Imperfecta, Type Vii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

6 (show top 50) (show all 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRTAP NM_006371.4(CRTAP):c.444C>G (p.Tyr148Ter)SNV Pathogenic 465810 rs972668240 3:33156013-33156013 3:33114521-33114521
2 CRTAP NM_006371.4(CRTAP):c.198C>A (p.Tyr66Ter)SNV Pathogenic 658698 3:33155767-33155767 3:33114275-33114275
3 CRTAP NM_006371.4(CRTAP):c.320_321delGCshort repeat Pathogenic 660744 3:33155887-33155888 3:33114395-33114396
4 CRTAP NM_006371.5(CRTAP):c.8del (p.Pro3fs)deletion Pathogenic 855093 3:33155576-33155576 3:33114084-33114084
5 CRTAP NC_000003.12:g.(?_33096991)_(33124599_?)deldeletion Pathogenic 639876 3:33138483-33166091 3:33096991-33124599
6 CRTAP NC_000003.12:g.(?_33114058)_(33124599_?)deldeletion Pathogenic 832169 3:33155550-33166091
7 CRTAP NM_006371.4(CRTAP):c.471+1G>CSNV Pathogenic 4949 rs72659359 3:33156041-33156041 3:33114549-33114549
8 CRTAP NM_006371.4(CRTAP):c.879del (p.Phe293fs)deletion Pathogenic 4948 rs72659362 3:33171514-33171514 3:33130022-33130022
9 CRTAP CRTAP, IVS1, -1021C-GSNV Pathogenic 4947
10 CRTAP NM_006371.4(CRTAP):c.826C>T (p.Gln276Ter)SNV Pathogenic 4950 rs72659361 3:33171463-33171463 3:33129971-33129971
11 CRTAP NM_006371.4(CRTAP):c.3G>A (p.Met1Ile)SNV Pathogenic 4951 rs72659357 3:33155572-33155572 3:33114080-33114080
12 CRTAP CRTAP, 16-BP DUPduplication Pathogenic 4952
13 CRTAP NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)indel Pathogenic 41922 rs387907333 3:33155687-33155702 3:33114195-33114210
14 CRTAP NM_006371.4(CRTAP):c.561T>G (p.Tyr187Ter)SNV Pathogenic 41923 rs387907334 3:33161925-33161925 3:33120433-33120433
15 CRTAP NM_006371.4(CRTAP):c.118G>T (p.Glu40Ter)SNV Pathogenic 217257 rs863225043 3:33155687-33155687 3:33114195-33114195
16 CRTAP NM_006371.5(CRTAP):c.471+2C>ASNV Pathogenic/Likely pathogenic 208570 rs137853943 3:33156042-33156042 3:33114550-33114550
17 CRTAP NM_006371.4(CRTAP):c.471+2C>GSNV Likely pathogenic 212732 rs137853943 3:33156042-33156042 3:33114550-33114550
18 CRTAP NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter)SNV Conflicting interpretations of pathogenicity 344809 rs137853944 3:33165912-33165912 3:33124420-33124420
19 CRTAP NM_006371.4(CRTAP):c.-35C>TSNV Conflicting interpretations of pathogenicity 344802 rs567359532 3:33155535-33155535 3:33114043-33114043
20 CRTAP NM_006371.4(CRTAP):c.732C>T (p.Leu244=)SNV Conflicting interpretations of pathogenicity 284911 rs149119710 3:33166010-33166010 3:33124518-33124518
21 CRTAP NM_006371.4(CRTAP):c.654C>T (p.Asn218=)SNV Conflicting interpretations of pathogenicity 465813 rs144486582 3:33165932-33165932 3:33124440-33124440
22 CRTAP NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe)SNV Conflicting interpretations of pathogenicity 439559 rs115198029 3:33174163-33174163 3:33132671-33132671
23 CRTAP NM_006371.4(CRTAP):c.1152+10deldeletion Uncertain significance 465806 rs1167597599 3:33175767-33175767 3:33134275-33134275
24 CRTAP NM_006371.4(CRTAP):c.92A>G (p.Tyr31Cys)SNV Uncertain significance 534207 rs372115693 3:33155661-33155661 3:33114169-33114169
25 CRTAP NM_006371.4(CRTAP):c.451C>G (p.Leu151Val)SNV Uncertain significance 429858 rs202118861 3:33156020-33156020 3:33114528-33114528
26 CRTAP NM_006371.4(CRTAP):c.1152+5G>CSNV Uncertain significance 437923 rs1553617810 3:33175762-33175762 3:33134270-33134270
27 CRTAP NM_006371.4(CRTAP):c.289G>C (p.Ala97Pro)SNV Uncertain significance 439558 rs200243989 3:33155858-33155858 3:33114366-33114366
28 CRTAP NM_006371.4(CRTAP):c.866C>T (p.Pro289Leu)SNV Uncertain significance 534205 rs147140948 3:33171503-33171503 3:33130011-33130011
29 CRTAP NM_006371.4(CRTAP):c.380C>A (p.Pro127Gln)SNV Uncertain significance 640162 3:33155949-33155949 3:33114457-33114457
30 CRTAP NM_006371.4(CRTAP):c.388C>T (p.Arg130Cys)SNV Uncertain significance 643201 3:33155957-33155957 3:33114465-33114465
31 CRTAP NM_006371.4(CRTAP):c.535G>A (p.Glu179Lys)SNV Uncertain significance 665607 3:33161899-33161899 3:33120407-33120407
32 CRTAP NM_006371.4(CRTAP):c.643C>T (p.Arg215Trp)SNV Uncertain significance 649807 3:33165921-33165921 3:33124429-33124429
33 CRTAP NM_006371.4(CRTAP):c.724G>A (p.Glu242Lys)SNV Uncertain significance 666050 3:33166002-33166002 3:33124510-33124510
34 CRTAP NM_006371.4(CRTAP):c.760A>G (p.Lys254Glu)SNV Uncertain significance 640796 3:33166038-33166038 3:33124546-33124546
35 CRTAP NM_006371.4(CRTAP):c.622-3C>GSNV Uncertain significance 640677 3:33165897-33165897 3:33124405-33124405
36 CRTAP NM_006371.4(CRTAP):c.70G>A (p.Gly24Arg)SNV Uncertain significance 639694 3:33155639-33155639 3:33114147-33114147
37 CRTAP NM_006371.4(CRTAP):c.85G>C (p.Glu29Gln)SNV Uncertain significance 639500 3:33155654-33155654 3:33114162-33114162
38 CRTAP NM_006371.4(CRTAP):c.101_109dup (p.Arg34_Phe36dup)duplication Uncertain significance 644126 3:33155661-33155662 3:33114169-33114170
39 CRTAP NM_006371.4(CRTAP):c.131T>C (p.Leu44Pro)SNV Uncertain significance 534203 rs772784211 3:33155700-33155700 3:33114208-33114208
40 CRTAP NM_006371.4(CRTAP):c.751A>G (p.Arg251Gly)SNV Uncertain significance 534206 rs1351893746 3:33166029-33166029 3:33124537-33124537
41 CRTAP NM_006371.4(CRTAP):c.88C>T (p.Arg30Cys)SNV Uncertain significance 534204 rs553076085 3:33155657-33155657 3:33114165-33114165
42 CRTAP NM_006371.4(CRTAP):c.239G>A (p.Ser80Asn)SNV Uncertain significance 572411 rs754916341 3:33155808-33155808 3:33114316-33114316
43 CRTAP NM_006371.4(CRTAP):c.88C>A (p.Arg30Ser)SNV Uncertain significance 581625 rs553076085 3:33155657-33155657 3:33114165-33114165
44 CRTAP NM_006371.4(CRTAP):c.368A>G (p.Lys123Arg)SNV Uncertain significance 568933 rs767456804 3:33155937-33155937 3:33114445-33114445
45 CRTAP NM_006371.4(CRTAP):c.146G>C (p.Arg49Pro)SNV Uncertain significance 648321 3:33155715-33155715 3:33114223-33114223
46 CRTAP NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg)SNV Uncertain significance 852993 3:33155737-33155737 3:33114245-33114245
47 CRTAP NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp)SNV Uncertain significance 845981 3:33155739-33155739 3:33114247-33114247
48 CRTAP NM_006371.5(CRTAP):c.344G>A (p.Arg115His)SNV Uncertain significance 850841 3:33155913-33155913 3:33114421-33114421
49 CRTAP NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr)SNV Uncertain significance 811416 3:33155922-33155922 3:33114430-33114430
50 CRTAP NM_006371.5(CRTAP):c.*50C>GSNV Uncertain significance 899774 3:33183990-33183990 3:33142498-33142498

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Vii:

73
# Symbol AA change Variation ID SNP ID
1 CRTAP p.Leu67Pro VAR_054442 rs72659358
2 CRTAP p.Ala13Glu VAR_063599 rs137853938
3 CRTAP p.Lys157Glu VAR_063600 rs137853942

Expression for Osteogenesis Imperfecta, Type Vii

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

Pathways for Osteogenesis Imperfecta, Type Vii

GO Terms for Osteogenesis Imperfecta, Type Vii

Sources for Osteogenesis Imperfecta, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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32 ICD10
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43 MeSH
44 MESH via Orphanet
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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