OI7
MCID: OST119
MIFTS: 48

Osteogenesis Imperfecta, Type Vii (OI7)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii 57 12 38
Osteogenesis Imperfecta Type Vii 11 19 73 43 71
Osteogenesis Imperfecta Type 7 11 28 5 14
Oi7 57 11 73
Oi Type Vii 19 73
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive 73
Osteogenesis Imperfecta Type Ii Autosomal Recessive 73
Osteogenesis Imperfecta, Type Iib, Formerly 57
Osteogenesis Imperfecta Type Iib 73
Osteogenesis Imperfecta 7 73
Oi2b, Formerly 57
Oi, Type Vii 57
Oi Type Iib 73
Oi Type 7 19
Oi-Iib 73
Oi-Vii 73
Oi2b 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
multiple fractures present at birth
death in infancy secondary to respiratory insufficiency/pneumonia
fracture frequency decreased post puberty


Classifications:



Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot: 73 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 osteogenesis imperfecta, type vi. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone, lung and kidney, and related phenotypes are scoliosis and osteopenia

GARD: 19 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).

OMIM®: 57 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) (Updated 08-Dec-2022)

Disease Ontology: 11 An osteogenesis imperfecta that has material basis in mutation in the CRTAP gene on chromosome 3p22.

Related Diseases for Osteogenesis Imperfecta, Type Vii

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii
Osteogenesis Imperfecta, Type Xx Osteogenesis Imperfecta, Type Xxi
Osteogenesis Imperfecta, Type Xxii

Diseases related to Osteogenesis Imperfecta, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.2 PPIB P3H1 IFITM5 CRTAP COL1A1
2 osteogenesis imperfecta, type vi 30.4 SOST IFITM5 COL1A1
3 osteogenesis imperfecta, type i 29.3 SOST P3H1 IFITM5 CRTAP COL1A1
4 brittle bone disorder 28.9 SOST PPIB P3H1 IFITM5 CRTAP COL1A1
5 inguinal hernia 10.1
6 hydrocephalus 10.1
7 tricuspid valve insufficiency 10.1
8 coxa vara 10.1
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
10 bone disease 10.1
11 tooth ankylosis 10.1
12 mucopolysaccharidosis iv 10.1
13 ankylosis 10.1
14 col1a1/2 osteogenesis imperfecta 10.1
15 osteogenesis imperfecta, type xiv 10.1 P3H1 CRTAP
16 osteogenesis imperfecta, type viii 10.1 P3H1 CRTAP
17 osteogenesis imperfecta, type xix 10.1 P3H1 CRTAP
18 osteogenesis imperfecta, type xi 10.0 CRTAP COL1A1
19 keratosis follicularis spinulosa decalvans 10.0 P3H1 CRTAP
20 osteogenesis imperfecta, type v 10.0 IFITM5 COL1A1
21 osteogenesis imperfecta, type xv 10.0 SOST P3H1
22 hyperostosis 10.0 SOST COL1A1
23 hypophosphatasia, childhood 9.9 SOST COL1A1
24 osteogenesis imperfecta, type ix 9.9 PPIB P3H1 CRTAP
25 fibrogenesis imperfecta ossium 9.9 P3H1 CRTAP COL1A1
26 van buchem disease 9.9 SOST COL1A1
27 sclerosteosis 9.9 SOST COL1A1
28 cole-carpenter syndrome 9.8 P3H1 IFITM5 CRTAP
29 primary hyperparathyroidism 9.8 SOST COL1A1
30 ehlers-danlos syndrome, arthrochalasia type, 2 9.8 IFITM5 CRTAP COL1A1
31 endosteal hyperostosis, autosomal dominant 9.8 SOST CRTAP COL1A1
32 bone resorption disease 9.8 SOST COL1A1
33 osteogenesis imperfecta, type xvii 9.7 MTRNR2L1 CCDC134
34 ehlers-danlos syndrome, classic type, 1 9.7 PPIB P3H1 CRTAP COL1A1
35 ehlers-danlos syndrome 9.7 PPIB P3H1 CRTAP COL1A1
36 bone remodeling disease 9.7 SOST COL1A1
37 caffey disease 9.6 P3H1 IFITM5 CRTAP COL1A1
38 bruck syndrome 9.4 PPIB P3H1 IFITM5 CRTAP COL1A1
39 dentinogenesis imperfecta 9.4 PPIB P3H1 IFITM5 CRTAP COL1A1
40 osteoporosis 9.4 SOST P3H1 IFITM5 CRTAP COL1A1
41 osteoporosis, juvenile 9.4 SOST P3H1 IFITM5 CRTAP COL1A1
42 bone development disease 9.2 SOST PPIB P3H1 IFITM5 CRTAP COL1A1
43 osteochondrodysplasia 9.2 SOST PPIB P3H1 IFITM5 CRTAP COL1A1
44 osteogenesis imperfecta, type iii 8.7 PPIB P3H1 MTRNR2L1 IFITM5 CRTAP COL1A1
45 osteogenesis imperfecta, type iv 8.4 SOST PPIB P3H1 MTRNR2L1 IFITM5 CRTAP

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:

30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 osteopenia 30 HP:0000938
3 pectus excavatum 30 HP:0000767
4 protrusio acetabuli 30 HP:0003179
5 hydronephrosis 30 HP:0000126
6 long philtrum 30 HP:0000343
7 recurrent fractures 30 HP:0002757
8 proptosis 30 HP:0000520
9 narrow chest 30 HP:0000774
10 micromelia 30 HP:0002983
11 round face 30 HP:0000311
12 wormian bones 30 HP:0002645
13 coxa vara 30 HP:0002812
14 blue sclerae 30 HP:0000592
15 wide anterior fontanel 30 HP:0000260
16 delayed cranial suture closure 30 HP:0000270
17 decreased calvarial ossification 30 HP:0005474
18 multiple rib fractures 30 HP:0006640
19 rhizomelia 30 HP:0008905
20 crumpled long bones 30 HP:0006367
21 bowing of the legs 30 HP:0002979
22 breech presentation 30 HP:0001623
23 wide cranial sutures 30 HP:0010537
24 multiple prenatal fractures 30 HP:0005855
25 vertebral compression fracture 30 HP:0002953
26 absent pulmonary artery 30 HP:0004960
27 femoral retroversion 30 HP:0008796
28 hypoplastic pulmonary veins 30 HP:0005304

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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
bowed lower limbs
externally rotated/abducted legs
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.55 COL1A1 IFITM5 P3H1 PPIB SOST
2 growth/size/body region MP:0005378 9.5 CCDC134 COL1A1 CRTAP IFITM5 P3H1 PPIB
3 skeleton MP:0005390 9.1 COL1A1 CRTAP IFITM5 P3H1 PPIB SOST

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

Cochrane evidence based reviews: 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 28 CRTAP

Anatomical Context for Osteogenesis Imperfecta, Type Vii

Organs/tissues related to Osteogenesis Imperfecta, Type Vii:

MalaCards : Bone, Lung, Kidney, Skin
ODiseA: Respiratory System-Lung, Respiratory System, Kidney

Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

(show all 28)
# Title Authors PMID Year
1
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. 62 57 5
12110406 2002
2
CRTAP mutation in a patient with Cole-Carpenter syndrome. 57 5
25604815 2015
3
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. 57 5
21955071 2012
4
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 57 5
23054245 2012
5
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. 57 5
17192541 2006
6
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. 57 5
17055431 2006
7
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. 62 57
12110407 2002
8
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 5
28116328 2017
9
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. 5
24715559 2014
10
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. 5
19862557 2010
11
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. 5
19846465 2010
12
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. 5
19550437 2009
13
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 5
18996919 2009
14
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. 5
18566967 2008
15
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
16
Anesthetic management of ventricular-peritoneal shunt implantation in osteogenesis imperfecta type IIB: A case report. 62
35029899 2022
17
Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. 62
32133710 2020
18
Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective. 62
28802583 2017
19
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 62
27362741 2016
20
Targeted carrier screening for four recessive disorders: high detection rate within a founder population. 62
25641760 2015
21
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. 62
19895918 2010
22
Classification of Osteogenesis Imperfecta revisited. 62
19878741 2010
23
Intravenous pamidronate in osteogenesis imperfecta type VII. 62
19137231 2009
24
Prenatal diagnosis of osteogenesis imperfecta type II. 62
9622170 1998
25
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. 62
2121988 1990
26
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta. 62
2332008 1990
27
[Bone scintigraphy in children from the surgical and orthopedic viewpoints]. 62
6613275 1983
28
Glycosaminoglycan synthesis in skin fibroblasts from patients with osteogenesis imperfecta. 62
6825845 1983

Variations for Osteogenesis Imperfecta, Type Vii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

5 (show top 50) (show all 376)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRTAP NM_006371.5(CRTAP):c.472-1021C>G SNV Pathogenic
4947 GRCh37: 3:33160815-33160815
GRCh38: 3:33119323-33119323
2 CRTAP NM_006371.5(CRTAP):c.879del (p.Phe293fs) DEL Pathogenic
4948 rs72659362 GRCh37: 3:33171514-33171514
GRCh38: 3:33130022-33130022
3 CRTAP NM_006371.5(CRTAP):c.471+1G>C SNV Pathogenic
4949 rs72659359 GRCh37: 3:33156041-33156041
GRCh38: 3:33114549-33114549
4 CRTAP NM_006371.5(CRTAP):c.3G>A (p.Met1Ile) SNV Pathogenic
4951 rs72659357 GRCh37: 3:33155572-33155572
GRCh38: 3:33114080-33114080
5 CRTAP NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter) SNV Pathogenic
217257 rs863225043 GRCh37: 3:33155687-33155687
GRCh38: 3:33114195-33114195
6 CRTAP NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) SNV Pathogenic
658698 rs137853939 GRCh37: 3:33155767-33155767
GRCh38: 3:33114275-33114275
7 CRTAP NM_006371.5(CRTAP):c.320_321del (p.Arg107fs) MICROSAT Pathogenic
660744 rs768626850 GRCh37: 3:33155887-33155888
GRCh38: 3:33114395-33114396
8 CRTAP NC_000003.12:g.(?_33114058)_(33124599_?)del DEL Pathogenic
832169 GRCh37: 3:33155550-33166091
GRCh38:
9 CRTAP NM_006371.5(CRTAP):c.8del (p.Pro3fs) DEL Pathogenic
855093 rs1701306294 GRCh37: 3:33155576-33155576
GRCh38: 3:33114084-33114084
10 CRTAP NM_006371.5(CRTAP):c.1001del (p.Asn334fs) DEL Pathogenic
1395362 GRCh37: 3:33174124-33174124
GRCh38: 3:33132632-33132632
11 CRTAP NC_000003.11:g.(?_33155570)_(33166091_?)del DEL Pathogenic
1459770 GRCh37: 3:33155570-33166091
GRCh38:
12 CRTAP NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter) SNV Pathogenic
1451956 GRCh37: 3:33155741-33155741
GRCh38: 3:33114249-33114249
13 CRTAP NM_006371.5(CRTAP):c.404del (p.Ser135fs) DEL Pathogenic
1687175 GRCh37: 3:33155973-33155973
GRCh38: 3:33114481-33114481
14 CRTAP NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter) SNV Pathogenic
4950 rs72659361 GRCh37: 3:33171463-33171463
GRCh38: 3:33129971-33129971
15 CRTAP NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs) DUP Pathogenic
4952 GRCh37: 3:33155840-33155841
GRCh38: 3:33114348-33114349
16 CRTAP NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs) INDEL Pathogenic
41922 rs387907333 GRCh37: 3:33155687-33155702
GRCh38: 3:33114195-33114210
17 CRTAP NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter) SNV Pathogenic
41923 rs387907334 GRCh37: 3:33161925-33161925
GRCh38: 3:33120433-33120433
18 CRTAP NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg) SNV Pathogenic
1299365 GRCh37: 3:33156039-33156039
GRCh38: 3:33114547-33114547
19 CRTAP NM_006371.5(CRTAP):c.62_77del (p.Leu21fs) DEL Pathogenic
1299298 GRCh37: 3:33155625-33155640
GRCh38: 3:33114133-33114148
20 CRTAP NM_006371.5(CRTAP):c.731_732del (p.Leu244fs) MICROSAT Pathogenic
1453839 GRCh37: 3:33166007-33166008
GRCh38: 3:33124515-33124516
21 CRTAP NM_006371.5(CRTAP):c.24_31del (p.Ala10fs) DEL Pathogenic
1070506 GRCh37: 3:33155591-33155598
GRCh38: 3:33114099-33114106
22 CRTAP NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer) DEL Pathogenic
1070167 GRCh37: 3:33155586-33155601
GRCh38: 3:33114094-33114109
23 CRTAP NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter) SNV Pathogenic
465810 rs972668240 GRCh37: 3:33156013-33156013
GRCh38: 3:33114521-33114521
24 overlap with 3 genes NC_000003.12:g.(?_33096991)_(33124599_?)del DEL Pathogenic
639876 GRCh37: 3:33138483-33166091
GRCh38: 3:33096991-33124599
25 CRTAP NM_006371.5(CRTAP):c.471+2C>A SNV Pathogenic/Likely Pathogenic
208570 rs137853943 GRCh37: 3:33156042-33156042
GRCh38: 3:33114550-33114550
26 CRTAP NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter) SNV Likely Pathogenic
1687531 GRCh37: 3:33165966-33165966
GRCh38: 3:33124474-33124474
27 CRTAP NM_006371.5(CRTAP):c.794-2A>G SNV Likely Pathogenic
1477218 GRCh37: 3:33171429-33171429
GRCh38: 3:33129937-33129937
28 CRTAP NM_006371.5(CRTAP):c.22dup (p.Ala8fs) DUP Likely Pathogenic
1324173 GRCh37: 3:33155585-33155586
GRCh38: 3:33114093-33114094
29 CRTAP NM_006371.5(CRTAP):c.471+2C>G SNV Likely Pathogenic
212732 rs137853943 GRCh37: 3:33156042-33156042
GRCh38: 3:33114550-33114550
30 CRTAP NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro) SNV Likely Pathogenic
1510318 GRCh37: 3:33156021-33156021
GRCh38: 3:33114529-33114529
31 CRTAP NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) SNV Conflicting Interpretations Of Pathogenicity
344809 rs137853944 GRCh37: 3:33165912-33165912
GRCh38: 3:33124420-33124420
32 CRTAP NM_006371.5(CRTAP):c.1068+11T>C SNV Conflicting Interpretations Of Pathogenicity
344814 rs761750861 GRCh37: 3:33174203-33174203
GRCh38: 3:33132711-33132711
33 CRTAP NM_006371.5(CRTAP):c.930C>T (p.Asp310=) SNV Conflicting Interpretations Of Pathogenicity
344812 rs762039541 GRCh37: 3:33174054-33174054
GRCh38: 3:33132562-33132562
34 CRTAP NM_006371.5(CRTAP):c.528T>G (p.Pro176=) SNV Conflicting Interpretations Of Pathogenicity
900859 rs774680682 GRCh37: 3:33161892-33161892
GRCh38: 3:33120400-33120400
35 CRTAP NM_006371.5(CRTAP):c.654C>T (p.Asn218=) SNV Conflicting Interpretations Of Pathogenicity
465813 rs144486582 GRCh37: 3:33165932-33165932
GRCh38: 3:33124440-33124440
36 CRTAP NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) SNV Conflicting Interpretations Of Pathogenicity
465814 rs145048208 GRCh37: 3:33165933-33165933
GRCh38: 3:33124441-33124441
37 CRTAP NM_006371.5(CRTAP):c.732C>T (p.Leu244=) SNV Conflicting Interpretations Of Pathogenicity
284911 rs149119710 GRCh37: 3:33166010-33166010
GRCh38: 3:33124518-33124518
38 CRTAP NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) SNV Conflicting Interpretations Of Pathogenicity
439559 rs115198029 GRCh37: 3:33174163-33174163
GRCh38: 3:33132671-33132671
39 CRTAP NM_006371.5(CRTAP):c.376C>T (p.Leu126=) SNV Conflicting Interpretations Of Pathogenicity
899714 rs756961672 GRCh37: 3:33155945-33155945
GRCh38: 3:33114453-33114453
40 CRTAP NM_006371.5(CRTAP):c.111A>G (p.Pro37=) SNV Conflicting Interpretations Of Pathogenicity
899713 rs772038741 GRCh37: 3:33155680-33155680
GRCh38: 3:33114188-33114188
41 CRTAP NM_006371.5(CRTAP):c.233G>A (p.Arg78His) SNV Uncertain Significance
1399562 GRCh37: 3:33155802-33155802
GRCh38: 3:33114310-33114310
42 CRTAP NM_006371.5(CRTAP):c.40C>G (p.Leu14Val) SNV Uncertain Significance
1359400 GRCh37: 3:33155609-33155609
GRCh38: 3:33114117-33114117
43 CRTAP NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro) SNV Uncertain Significance
1379220 GRCh37: 3:33155682-33155682
GRCh38: 3:33114190-33114190
44 CRTAP NM_006371.5(CRTAP):c.851T>C (p.Val284Ala) SNV Uncertain Significance
1371784 GRCh37: 3:33171488-33171488
GRCh38: 3:33129996-33129996
45 CRTAP NM_006371.5(CRTAP):c.235G>C (p.Asp79His) SNV Uncertain Significance
1349797 GRCh37: 3:33155804-33155804
GRCh38: 3:33114312-33114312
46 CRTAP NM_006371.5(CRTAP):c.1152+10del DEL Uncertain Significance
465806 rs1167597599 GRCh37: 3:33175767-33175767
GRCh38: 3:33134275-33134275
47 CRTAP NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg) SNV Uncertain Significance
1030103 rs114245114 GRCh37: 3:33166039-33166039
GRCh38: 3:33124547-33124547
48 CRTAP NM_006371.5(CRTAP):c.1153-3C>G SNV Uncertain Significance
1019549 rs201554363 GRCh37: 3:33183884-33183884
GRCh38: 3:33142392-33142392
49 CRTAP NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg) SNV Uncertain Significance
1018351 rs1405064021 GRCh37: 3:33156021-33156021
GRCh38: 3:33114529-33114529
50 CRTAP NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr) SNV Uncertain Significance
1014103 rs768482278 GRCh37: 3:33155684-33155684
GRCh38: 3:33114192-33114192

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

Cellular components related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.86 CRTAP P3H1 PPIB SOST
2 endoplasmic reticulum GO:0005783 9.81 PPIB P3H1 CRTAP COL1A1 CCDC134
3 extracellular region GO:0005576 9.61 SOST P3H1 MTRNR2L1 CRTAP COL1A1 CCDC134
4 endoplasmic reticulum lumen GO:0005788 9.23 PPIB P3H1 CRTAP COL1A1

Biological processes related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.67 PPIB P3H1
2 protein stabilization GO:0050821 9.63 PPIB P3H1 CRTAP
3 collagen fibril organization GO:0030199 9.62 CRTAP COL1A1
4 response to mechanical stimulus GO:0009612 9.56 SOST COL1A1
5 negative regulation of post-translational protein modification GO:1901874 9.26 P3H1 CRTAP
6 chaperone-mediated protein folding GO:0061077 9.1 PPIB P3H1 CRTAP

Molecular functions related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.1 PPIB P3H1 CRTAP

Sources for Osteogenesis Imperfecta, Type Vii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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