OI7
MCID: OST119
MIFTS: 49

Osteogenesis Imperfecta, Type Vii (OI7)

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 Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii 57 13
Osteogenesis Imperfecta Type Vii 12 20 72 39 70
Osteogenesis Imperfecta Type 7 12 29 6 15
Oi7 57 12 72
Oi Type Vii 20 72
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive 72
Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly 57
Osteogenesis Imperfecta Type Ii Autosomal Recessive 72
Osteogenesis Imperfecta, Type Iib, Formerly 57
Osteogenesis Imperfecta Type Iib 72
Osteogenesis Imperfecta 7 72
Oi2b, Formerly 57
Oi, Type Vii 57
Oi Type Iib 72
Oi Type 7 20
Oi-Iib 72
Oi-Vii 72
Oi2b 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : 72 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 col1a1/2 osteogenesis imperfecta. 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 Degradation of the extracellular matrix. 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® : 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 05-Apr-2021)

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

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.6 PPIB P3H1 CRTAP COL1A2 COL1A1 CD36
2 col1a1/2 osteogenesis imperfecta 30.6 COL1A2 COL1A1
3 tooth ankylosis 30.6 PTH1R CRTAP
4 bone disease 29.7 SPP1 PTH1R CRTAP COL1A1 CD36 BGLAP
5 brittle bone disorder 29.5 SPP1 PTH1R PPIB P3H1 CRTAP COL1A2
6 osteogenesis imperfecta, type viii 10.3 P3H1 CRTAP
7 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A2 COL1A1
8 high bone mass osteogenesis imperfecta 10.3 COL1A2 COL1A1
9 arthrochalasia ehlers-danlos syndrome 10.3 COL1A2 COL1A1
10 boomerang dysplasia 10.3 P3H1 CRTAP
11 larsen-like syndrome 10.3 COL1A2 COL1A1
12 ehlers-danlos syndrome, arthrochalasia type, 2 10.3 COL1A2 COL1A1
13 myositis ossificans 10.2 COL1A1 BGLAP
14 diffuse scleroderma 10.2 COL1A2 COL1A1
15 syndromic x-linked intellectual disability cabezas type 10.2 COL1A2 COL1A1
16 ehlers-danlos syndrome, cardiac valvular type 10.2 COL1A2 COL1A1
17 wiedemann-rautenstrauch syndrome 10.2 SPP1 BGLAP
18 tympanosclerosis 10.2 SPP1 COL1A1
19 papillary cystadenocarcinoma 10.2 SPP1 BGLAP
20 osteogenesis imperfecta, type v 10.2 COL1A2 COL1A1 CD36
21 scleroderma, familial progressive 10.2 COL1A2 COL1A1 CD36
22 beta-thalassemia major 10.2 COL1A1 BGLAP
23 classic ehlers-danlos syndrome 10.2 COL1A2 COL1A1
24 caffey disease 10.2 COL1A2 COL1A1 CD36
25 pelvic organ prolapse 10.2 COL1A2 COL1A1 CD36
26 hemarthrosis 10.2 SPP1 BGLAP
27 ehlers-danlos syndrome 10.1 COL1A2 COL1A1 CD36
28 endosteal hyperostosis, autosomal dominant 10.1 CRTAP COL1A2 COL1A1
29 tooth resorption 10.1 SPP1 BGLAP
30 x-linked alport syndrome 10.1 COL1A2 COL1A1
31 cole-carpenter syndrome 10.1 CRTAP COL1A2
32 osteofibrous dysplasia 10.1 SPP1 CD36 BGLAP
33 coxa vara 10.1
34 autosomal recessive disease 10.1
35 ankylosis 10.1
36 bone structure disease 10.1 COL1A2 COL1A1 BGLAP
37 ischemic bone disease 10.1 SPP1 COL1A1 BGLAP
38 ocular cicatricial pemphigoid 10.1 TGFBR2 CD36
39 van buchem disease 10.1 PTH1R COL1A1 BGLAP
40 phenylketonuria 10.1 COL1A2 COL1A1 BGLAP
41 hyperostosis 10.1 SPP1 COL1A2 COL1A1
42 primary hyperparathyroidism 10.1 PTH1R CD36 BGLAP
43 fibrogenesis imperfecta ossium 10.1 P3H1 CRTAP COL1A2 COL1A1
44 mineral metabolism disease 10.0 SPP1 PTH1R BGLAP
45 chondrodysplasia, blomstrand type 10.0 PTH1R BGLAP
46 hypophosphatemia 10.0 SPP1 PTH1R BGLAP
47 osteoporosis, juvenile 10.0 COL1A2 COL1A1 CD36 BGLAP
48 collagen disease 10.0 TGFBR2 COL1A2 COL1A1
49 otosclerosis 10.0 PTH1R COL1A2 COL1A1 CD36
50 phosphorus metabolism disease 10.0 SPP1 BGLAP

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 multiple rib fractures 31 HP:0006640
19 rhizomelia 31 HP:0008905
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 BGLAP CD36 COL1A1 COL1A2 GAD1 GNPTAB
2 growth/size/body region MP:0005378 10.21 CD36 COL1A1 COL1A2 CRTAP GAD1 GNPTAB
3 cardiovascular system MP:0005385 10.15 CD36 COL1A1 COL1A2 GNPTAB MDH2 P3H1
4 craniofacial MP:0005382 10.06 COL1A1 GAD1 GNPTAB MDH2 PPIB PTH1R
5 mortality/aging MP:0010768 10.03 CD36 COL1A1 COL1A2 GAD1 GNPTAB MDH2
6 endocrine/exocrine gland MP:0005379 10.01 BGLAP CD36 COL1A1 GAD1 GNPTAB PTH1R
7 digestive/alimentary MP:0005381 9.98 CD36 COL1A1 GAD1 GNPTAB PTH1R STX2
8 limbs/digits/tail MP:0005371 9.92 COL1A1 COL1A2 GAD1 GNPTAB MDH2 P3H1
9 muscle MP:0005369 9.7 CD36 COL1A1 COL1A2 GNPTAB P3H1 SPP1
10 nervous system MP:0003631 9.65 CD36 COL1A1 COL1A2 GAD1 GNPTAB MDH2
11 skeleton MP:0005390 9.44 BGLAP CD36 COL1A1 COL1A2 CRTAP GAD1

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 13)
# Title Authors PMID Year
1
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. 57 6 61
12110406 2002
2
CRTAP mutation in a patient with Cole-Carpenter syndrome. 6 57
25604815 2015
3
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. 6 57
21955071 2012
4
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 6 57
23054245 2012
5
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. 6 57
17192541 2006
6
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. 57 6
17055431 2006
7
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. 57 61
12110407 2002
8
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. 6
19846465 2010
9
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. 6
19550437 2009
10
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
11
Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. 61
32133710 2020
12
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. 61
19895918 2010
13
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 269)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRTAP CRTAP, IVS1, -1021C-G SNV Pathogenic 4947 GRCh37:
GRCh38:
2 CRTAP NM_006371.4(CRTAP):c.879del (p.Phe293fs) Deletion Pathogenic 4948 rs72659362 GRCh37: 3:33171514-33171514
GRCh38: 3:33130022-33130022
3 CRTAP NM_006371.4(CRTAP):c.471+1G>C SNV Pathogenic 4949 rs72659359 GRCh37: 3:33156041-33156041
GRCh38: 3:33114549-33114549
4 CRTAP NM_006371.5(CRTAP):c.826C>T SNV Pathogenic 4950 rs72659361 GRCh37: 3:33171463-33171463
GRCh38: 3:33129971-33129971
5 CRTAP NM_006371.4(CRTAP):c.3G>A (p.Met1Ile) SNV Pathogenic 4951 rs72659357 GRCh37: 3:33155572-33155572
GRCh38: 3:33114080-33114080
6 CRTAP CRTAP, 16-BP DUP Duplication Pathogenic 4952 GRCh37:
GRCh38:
7 CRTAP NM_006371.4(CRTAP):c.118G>T (p.Glu40Ter) SNV Pathogenic 217257 rs863225043 GRCh37: 3:33155687-33155687
GRCh38: 3:33114195-33114195
8 CRTAP NM_006371.4(CRTAP):c.444C>G (p.Tyr148Ter) SNV Pathogenic 465810 rs972668240 GRCh37: 3:33156013-33156013
GRCh38: 3:33114521-33114521
9 CRTAP NM_006371.4(CRTAP):c.198C>A (p.Tyr66Ter) SNV Pathogenic 658698 rs137853939 GRCh37: 3:33155767-33155767
GRCh38: 3:33114275-33114275
10 CRTAP NM_006371.4(CRTAP):c.320_321delGC Microsatellite Pathogenic 660744 rs768626850 GRCh37: 3:33155887-33155888
GRCh38: 3:33114395-33114396
11 CRTAP NC_000003.12:g.(?_33114058)_(33124599_?)del Deletion Pathogenic 832169 GRCh37: 3:33155550-33166091
GRCh38:
12 CRTAP NM_006371.5(CRTAP):c.8del (p.Pro3fs) Deletion Pathogenic 855093 GRCh37: 3:33155576-33155576
GRCh38: 3:33114084-33114084
13 overlap with 3 genes NC_000003.12:g.(?_33096991)_(33124599_?)del Deletion Pathogenic 639876 GRCh37: 3:33138483-33166091
GRCh38: 3:33096991-33124599
14 CRTAP NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs) Indel Pathogenic 41922 rs387907333 GRCh37: 3:33155687-33155702
GRCh38: 3:33114195-33114210
15 CRTAP NM_006371.4(CRTAP):c.561T>G (p.Tyr187Ter) SNV Pathogenic 41923 rs387907334 GRCh37: 3:33161925-33161925
GRCh38: 3:33120433-33120433
16 CRTAP NM_006371.5(CRTAP):c.471+2C>A SNV Pathogenic/Likely pathogenic 208570 rs137853943 GRCh37: 3:33156042-33156042
GRCh38: 3:33114550-33114550
17 CRTAP NM_006371.4(CRTAP):c.471+2C>G SNV Likely pathogenic 212732 rs137853943 GRCh37: 3:33156042-33156042
GRCh38: 3:33114550-33114550
18 CRTAP NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter) SNV Conflicting interpretations of pathogenicity 344809 rs137853944 GRCh37: 3:33165912-33165912
GRCh38: 3:33124420-33124420
19 CRTAP NM_006371.4(CRTAP):c.654C>T (p.Asn218=) SNV Conflicting interpretations of pathogenicity 465813 rs144486582 GRCh37: 3:33165932-33165932
GRCh38: 3:33124440-33124440
20 CRTAP NM_006371.4(CRTAP):c.732C>T (p.Leu244=) SNV Conflicting interpretations of pathogenicity 284911 rs149119710 GRCh37: 3:33166010-33166010
GRCh38: 3:33124518-33124518
21 CRTAP NM_006371.4(CRTAP):c.655G>A (p.Gly219Ser) SNV Conflicting interpretations of pathogenicity 465814 rs145048208 GRCh37: 3:33165933-33165933
GRCh38: 3:33124441-33124441
22 CRTAP NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe) SNV Conflicting interpretations of pathogenicity 439559 rs115198029 GRCh37: 3:33174163-33174163
GRCh38: 3:33132671-33132671
23 CRTAP NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg) SNV Uncertain significance 1030103 GRCh37: 3:33166039-33166039
GRCh38: 3:33124547-33124547
24 CRTAP NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly) SNV Uncertain significance 1034979 GRCh37: 3:33155742-33155742
GRCh38: 3:33114250-33114250
25 CRTAP NM_006371.5(CRTAP):c.235G>T (p.Asp79Tyr) SNV Uncertain significance 1038766 GRCh37: 3:33155804-33155804
GRCh38: 3:33114312-33114312
26 CRTAP NM_006371.5(CRTAP):c.677T>A (p.Ile226Asn) SNV Uncertain significance 1042604 GRCh37: 3:33165955-33165955
GRCh38: 3:33124463-33124463
27 CRTAP NM_006371.5(CRTAP):c.*3332G>T SNV Uncertain significance 903560 GRCh37: 3:33187272-33187272
GRCh38: 3:33145780-33145780
28 CRTAP NM_006371.5(CRTAP):c.*1071G>T SNV Uncertain significance 903443 GRCh37: 3:33185011-33185011
GRCh38: 3:33143519-33143519
29 CRTAP NM_006371.5(CRTAP):c.*1193A>G SNV Uncertain significance 903444 GRCh37: 3:33185133-33185133
GRCh38: 3:33143641-33143641
30 CRTAP NM_006371.5(CRTAP):c.*2435T>G SNV Uncertain significance 903495 GRCh37: 3:33186375-33186375
GRCh38: 3:33144883-33144883
31 CRTAP NM_006371.5(CRTAP):c.*2456T>G SNV Uncertain significance 903496 GRCh37: 3:33186396-33186396
GRCh38: 3:33144904-33144904
32 CRTAP NM_006371.4(CRTAP):c.-35C>T SNV Uncertain significance 344802 rs567359532 GRCh37: 3:33155535-33155535
GRCh38: 3:33114043-33114043
33 CRTAP NM_006371.5(CRTAP):c.*4940G>C SNV Uncertain significance 900034 GRCh37: 3:33188880-33188880
GRCh38: 3:33147388-33147388
34 CRTAP NM_006371.5(CRTAP):c.*4950A>G SNV Uncertain significance 900035 GRCh37: 3:33188890-33188890
GRCh38: 3:33147398-33147398
35 CRTAP NM_006371.5(CRTAP):c.*5005G>T SNV Uncertain significance 900036 GRCh37: 3:33188945-33188945
GRCh38: 3:33147453-33147453
36 CRTAP NM_006371.5(CRTAP):c.528T>G (p.Pro176=) SNV Uncertain significance 900859 GRCh37: 3:33161892-33161892
GRCh38: 3:33120400-33120400
37 CRTAP NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu) SNV Uncertain significance 900860 GRCh37: 3:33161898-33161898
GRCh38: 3:33120406-33120406
38 CRTAP NM_006371.5(CRTAP):c.*2968G>A SNV Uncertain significance 901068 GRCh37: 3:33186908-33186908
GRCh38: 3:33145416-33145416
39 CRTAP NM_006371.5(CRTAP):c.*3012G>A SNV Uncertain significance 901069 GRCh37: 3:33186952-33186952
GRCh38: 3:33145460-33145460
40 CRTAP NM_006371.5(CRTAP):c.*3978T>C SNV Uncertain significance 901135 GRCh37: 3:33187918-33187918
GRCh38: 3:33146426-33146426
41 CRTAP NM_006371.5(CRTAP):c.*4124G>A SNV Uncertain significance 901137 GRCh37: 3:33188064-33188064
GRCh38: 3:33146572-33146572
42 CRTAP NM_006371.5(CRTAP):c.*4190C>T SNV Uncertain significance 901138 GRCh37: 3:33188130-33188130
GRCh38: 3:33146638-33146638
43 CRTAP NM_006371.5(CRTAP):c.*5134T>C SNV Uncertain significance 901192 GRCh37: 3:33189074-33189074
GRCh38: 3:33147582-33147582
44 CRTAP NM_006371.5(CRTAP):c.*5183C>A SNV Uncertain significance 901193 GRCh37: 3:33189123-33189123
GRCh38: 3:33147631-33147631
45 CRTAP NM_006371.5(CRTAP):c.*5190G>T SNV Uncertain significance 901194 GRCh37: 3:33189130-33189130
GRCh38: 3:33147638-33147638
46 CRTAP NM_006371.5(CRTAP):c.*5195C>A SNV Uncertain significance 901195 GRCh37: 3:33189135-33189135
GRCh38: 3:33147643-33147643
47 CRTAP NM_006371.5(CRTAP):c.*5223T>A SNV Uncertain significance 901196 GRCh37: 3:33189163-33189163
GRCh38: 3:33147671-33147671
48 CRTAP NM_006371.5(CRTAP):c.*2071A>G SNV Uncertain significance 901561 GRCh37: 3:33186011-33186011
GRCh38: 3:33144519-33144519
49 CRTAP NM_006371.5(CRTAP):c.*2113A>G SNV Uncertain significance 901562 GRCh37: 3:33186053-33186053
GRCh38: 3:33144561-33144561
50 CRTAP NM_006371.5(CRTAP):c.*2129A>G SNV Uncertain significance 901563 GRCh37: 3:33186069-33186069
GRCh38: 3:33144577-33144577

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 PPIB P3H1 CRTAP COL1A2 COL1A1
2
Show member pathways
12.39 SPP1 PPIB P3H1 CRTAP COL1A2 COL1A1
3
Show member pathways
11.82 SPP1 COL1A2 COL1A1 CD36
4
Show member pathways
11.65 COL1A2 COL1A1 CD36
5 11.61 TGFBR2 COL1A2 COL1A1
6 11.25 COL1A2 COL1A1 CD36
7 10.91 SPP1 PTH1R COL1A1 BGLAP
8 10.84 COL1A2 COL1A1
9 10.61 SPP1 PTH1R COL1A2 COL1A1 BGLAP
10 10.48 PTH1R COL1A1 BGLAP

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 extracellular space GO:0005615 9.87 STX2 SPP1 CRTAP COL1A2 COL1A1 CD36
2 Golgi apparatus GO:0005794 9.85 ST8SIA2 SPP1 GNPTAB COL1A1 CD36 BGLAP
3 protein-containing complex GO:0032991 9.65 STX2 RAD51 PPIB P3H1 CRTAP
4 collagen trimer GO:0005581 9.33 COL1A2 COL1A1 CD36
5 endoplasmic reticulum lumen GO:0005788 9.17 SPP1 PPIB P3H1 CRTAP COL1A2 COL1A1
6 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.75 TGFBR2 RAD51 BGLAP
2 osteoblast differentiation GO:0001649 9.71 SPP1 COL1A1 BGLAP
3 response to mechanical stimulus GO:0009612 9.67 TGFBR2 COL1A1 BGLAP
4 skeletal system development GO:0001501 9.67 PTH1R COL1A2 COL1A1 BGLAP
5 bone development GO:0060348 9.65 PPIB P3H1 BGLAP
6 response to drug GO:0042493 9.65 TGFBR2 RAD51 GAD1 COL1A1 BGLAP
7 blood vessel development GO:0001568 9.63 TGFBR2 COL1A2 COL1A1
8 collagen fibril organization GO:0030199 9.61 CRTAP COL1A2 COL1A1
9 bone mineralization GO:0030282 9.58 PTH1R COL1A2 BGLAP
10 carboxylic acid metabolic process GO:0019752 9.57 MDH2 GAD1
11 response to vitamin D GO:0033280 9.56 SPP1 BGLAP
12 osteoblast development GO:0002076 9.55 PTH1R BGLAP
13 collagen metabolic process GO:0032963 9.52 P3H1 COL1A2
14 skin morphogenesis GO:0043589 9.51 COL1A2 COL1A1
15 response to steroid hormone GO:0048545 9.5 TGFBR2 SPP1 COL1A1
16 chaperone-mediated protein folding GO:0061077 9.33 PPIB P3H1 CRTAP
17 negative regulation of post-translational protein modification GO:1901874 8.96 P3H1 CRTAP
18 ossification GO:0001503 8.92 SPP1 PTH1R COL1A1 BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.16 TGFBR2 CD36
2 platelet-derived growth factor binding GO:0048407 8.96 COL1A2 COL1A1
3 collagen binding GO:0005518 8.8 PPIB P3H1 CRTAP

Sources for Osteogenesis Imperfecta, Type Vii

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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