Osteogenesis Imperfecta, Type Vii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Eye diseases Oral diseases Neuronal diseases Respiratory diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

External Ids:

Disease Ontology ¹² DOID:0110337

OMIM® ⁵⁷ 610682

OMIM Phenotypic Series ⁵⁷ PS166200

MeSH ⁴⁴ D010013

ICD10 ³² Q78.0

MedGen ⁴¹ C1853162

UMLS ⁷⁰ C1853162

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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)

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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:

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

³¹ (show all 28)

#	Description	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

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

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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

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Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

⁴⁰

Bone

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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	Ward LM...Glorieux FH	12110406	2002
2	CRTAP mutation in a patient with Cole-Carpenter syndrome. ⁶ ⁵⁷	Balasubramanian M...Bishop NJ	25604815	2015
3	Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. ⁶ ⁵⁷	Valli M...Mottes M	21955071	2012
4	Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. ⁶ ⁵⁷	Shaheen R...Alkuraya FS	23054245	2012
5	Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. ⁶ ⁵⁷	Barnes AM...Marini JC	17192541	2006
6	CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. ⁵⁷ ⁶	Morello R...Lee B	17055431	2006
7	Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. ⁵⁷ ⁶¹	Labuda M...Glorieux FH	12110407	2002
8	Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. ⁶	Chang W...Marini JC	19846465	2010
9	CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. ⁶	Van Dijk FS...Pals G	19550437	2009
10	Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ⁶	Bodian DL...Klein TE	18996919	2009
11	Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. ⁶¹	Xu H...Hatch NE	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	Fratzl-Zelman N...Roschger P	19895918	2010
13	Intravenous pamidronate in osteogenesis imperfecta type VII. ⁶¹	Cheung MS...Rauch F	19137231	2009

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Genes for Osteogenesis Imperfecta, Type Vii

Genes related to Osteogenesis Imperfecta, Type Vii (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CRTAP	Cartilage Associated Protein	Protein Coding	1340.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	12110406 17055431
2	CD36	CD36 Molecule	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
3	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	5.13	DISEASES inferred ¹⁵
4	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	5.02	DISEASES inferred ¹⁵
5	GNPTAB	N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta	Protein Coding	4.9	DISEASES inferred ¹⁵
6	MDH2	Malate Dehydrogenase 2	Protein Coding	4.8	DISEASES inferred ¹⁵
7	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	4.78	DISEASES inferred ¹⁵
8	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	4.74	DISEASES inferred ¹⁵
9	SPP1	Secreted Phosphoprotein 1	Protein Coding	4.7	DISEASES inferred ¹⁵
10	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	4.68	DISEASES inferred ¹⁵
11	PPIB	Peptidylprolyl Isomerase B	Protein Coding	4.58	DISEASES inferred ¹⁵
12	STX2	Syntaxin 2	Protein Coding	4.32	DISEASES inferred ¹⁵
13	ST8SIA2	ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2	Protein Coding	4.3	DISEASES inferred ¹⁵
14	GAD1	Glutamate Decarboxylase 1	Protein Coding	4.09	DISEASES inferred ¹⁵
15	RAD51	RAD51 Recombinase	Protein Coding	3.67	DISEASES inferred ¹⁵
16	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	3.67	DISEASES inferred ¹⁵

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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

Sources

Expression for Osteogenesis Imperfecta, Type Vii

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

Sources

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	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.53	PPIB P3H1 CRTAP COL1A2 COL1A1
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.39	SPP1 PPIB P3H1 CRTAP COL1A2 COL1A1
3	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.82	SPP1 COL1A2 COL1A1 CD36
4	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁵ Show member pathways Scavenging by Class A Receptors ⁶⁵ Scavenging by Class B Receptors ⁶⁵ Scavenging by Class F Receptors ⁶⁵ Scavenging by Class H Receptors ⁶⁵ Scavenging of heme from plasma ⁶⁵	11.65	COL1A2 COL1A1 CD36
5	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.61	TGFBR2 COL1A2 COL1A1
6	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.25	COL1A2 COL1A1 CD36
7	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²³	10.91	SPP1 PTH1R COL1A1 BGLAP
8	VEGFR3 signaling in lymphatic endothelium ¹	10.84	COL1A2 COL1A1
9	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	10.61	SPP1 PTH1R COL1A2 COL1A1 BGLAP
10	Osteoblast Signaling ¹	10.48	PTH1R COL1A1 BGLAP

Sources

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

Sources for Osteogenesis Imperfecta, Type Vii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Osteogenesis Imperfecta, Type Vii (OI7)

Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Osteogenesis Imperfecta, Type Vii

Related Diseases for Osteogenesis Imperfecta, Type Vii

Diseases in the Osteogenesis Imperfecta, Type I family:

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

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

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

Genetic Tests for Osteogenesis Imperfecta, Type Vii

Genetic tests related to Osteogenesis Imperfecta, Type Vii:

Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

Publications for Osteogenesis Imperfecta, Type Vii

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Genes for Osteogenesis Imperfecta, Type Vii

Genes related to Osteogenesis Imperfecta, Type Vii (1 elite genes):

Variations for Osteogenesis Imperfecta, Type Vii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

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

Expression for Osteogenesis Imperfecta, Type Vii

Pathways for Osteogenesis Imperfecta, Type Vii

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

GO Terms for Osteogenesis Imperfecta, Type Vii

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

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

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

Sources for Osteogenesis Imperfecta, Type Vii