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, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii ⁵⁸ ¹³

Osteogenesis Imperfecta Type Vii ¹² ⁵⁴ ⁷⁶ ⁴¹ ⁷⁴

Osteogenesis Imperfecta Type 7 ¹² ³⁰ ⁶ ¹⁵

Oi7 ⁵⁸ ¹² ⁷⁶

Oi Type Vii ⁵⁴ ⁷⁶

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive ⁷⁶

Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly ⁵⁸

Osteogenesis Imperfecta Type Ii Autosomal Recessive ⁷⁶

Osteogenesis Imperfecta, Type Iib, Formerly ⁵⁸

Osteogenesis Imperfecta Type Iib ⁷⁶

Osteogenesis Imperfecta 7 ⁷⁶

Oi2b, Formerly ⁵⁸

Oi, Type Vii ⁵⁸

Oi Type Iib ⁷⁶

Oi Type 7 ⁵⁴

Oi-Iib ⁷⁶

Oi-Vii ⁷⁶

Oi2b ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

osteogenesis imperfecta, type vii:
Clinical modifier 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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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 ⁵⁸ 610682

MeSH ⁴⁵ D010013

ICD10 ³⁴ Q78.0

MedGen ⁴³ C1853162

UMLS ⁷⁴ C1853162

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Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : ⁷⁶ 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 bone disease. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. Affiliated tissues include bone and eye, and related phenotypes are pectus excavatum and osteopenia

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

OMIM : ⁵⁸ 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)

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Related Diseases for Osteogenesis Imperfecta, Type Vii

Diseases in the Osteogenesis Imperfecta, Type Ii family:

Osteogenesis Imperfecta, Type I	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

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

(show all 29)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	31.4	CD36 COL1A1 COL1A2 CRTAP
2	bone disease	29.8	CD36 COL1A1 PTH1R
3	brittle bone disorder	29.5	CD36 COL1A1 COL1A2 CRTAP PTH1R
4	col1a1/2-related osteogenesis imperfecta	10.4
5	ehlers-danlos syndrome, classic type, 2	10.0	CD36 COL1A1
6	osteoporosis, juvenile	10.0	CD36 COL1A1
7	ehlers-danlos/osteogenesis imperfecta syndrome	10.0	COL1A1 COL1A2
8	high bone mass osteogenesis imperfecta	10.0	COL1A1 COL1A2
9	larsen-like syndrome	10.0	COL1A1 COL1A2
10	ehlers-danlos syndrome	9.9	COL1A1 COL1A2
11	classic ehlers-danlos syndrome	9.9	COL1A1 COL1A2
12	ehlers-danlos syndrome, classic type, 1	9.9	COL1A1 COL1A2
13	otosclerosis	9.9	COL1A1 COL1A2
14	spondyloepiphyseal dysplasia congenita	9.8	COL1A1 COL1A2
15	ocular cicatricial pemphigoid	9.8	CD36 TGFBR2
16	collagen disease	9.8	COL1A1 COL1A2
17	osteogenesis imperfecta, type viii	9.8	COL1A1 COL1A2 CRTAP
18	osteogenesis imperfecta, type v	9.7	CD36 COL1A1 COL1A2
19	osteogenesis imperfecta, type i	9.7	CD36 COL1A1 COL1A2
20	dentinogenesis imperfecta	9.7	COL1A1 COL1A2 CRTAP
21	bone development disease	9.7	COL1A1 COL1A2 CRTAP
22	scleroderma, familial progressive	9.7	CD36 COL1A1 COL1A2
23	caffey disease	9.7	CD36 COL1A1 COL1A2
24	primary hyperparathyroidism	9.7	CD36 PTH1R
25	marfan syndrome	9.6	COL1A2 TGFBR2
26	osteogenesis imperfecta, type iv	9.5	CD36 COL1A1 COL1A2 CRTAP
27	osteogenesis imperfecta, type iii	9.5	CD36 COL1A1 COL1A2 CRTAP
28	bruck syndrome	9.5	CD36 COL1A1 COL1A2 CRTAP
29	osteoporosis	9.4	CD36 COL1A1 COL1A2 PTH1R

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:

³³ (show all 28)

#	Description	HPO Source Accession
1	pectus excavatum ³³	HP:0000767
2	osteopenia ³³	HP:0000938
3	scoliosis ³³	HP:0002650
4	long philtrum ³³	HP:0000343
5	narrow chest ³³	HP:0000774
6	micromelia ³³	HP:0002983
7	wormian bones ³³	HP:0002645
8	rhizomelia ³³	HP:0008905
9	protrusio acetabuli ³³	HP:0003179
10	round face ³³	HP:0000311
11	recurrent fractures ³³	HP:0002757
12	wide anterior fontanel ³³	HP:0000260
13	proptosis ³³	HP:0000520
14	coxa vara ³³	HP:0002812
15	blue sclerae ³³	HP:0000592
16	hydronephrosis ³³	HP:0000126
17	breech presentation ³³	HP:0001623
18	multiple prenatal fractures ³³	HP:0005855
19	decreased calvarial ossification ³³	HP:0005474
20	delayed cranial suture closure ³³	HP:0000270
21	bowing of the legs ³³	HP:0002979
22	vertebral compression fractures ³³	HP:0002953
23	crumpled long bones ³³	HP:0006367
24	wide cranial sutures ³³	HP:0010537
25	multiple rib fractures ³³	HP:0006640
26	absent pulmonary artery ³³	HP:0004960
27	hypoplastic pulmonary veins ³³	HP:0005304
28	externally rotated/abducted legs ³³	HP:0003783

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Skeletal Spine:
scoliosis
vertebral compression fractures

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Skeletal Pelvis:
coxa vara
protrusio acetabulae

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

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

Head And Neck Face:
long philtrum
round face

Skeletal Limbs:
micromelia
rhizomelia
crumpled long bones
bowed lower limbs
externally rotated/abducted legs
more

Head And Neck Eyes:
proptosis
bluish sclerae

Genitourinary Kidneys:
hydronephrosis

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta

Clinical features from OMIM:

610682

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.83	CD36 COL1A1 COL1A2 PTH1R TGFBR2
2	cardiovascular system	MP:0005385	9.8	CD36 COL1A1 COL1A2 PTH1R TGFBR2
3	growth/size/body region	MP:0005378	9.8	CD36 COL1A1 COL1A2 CRTAP PTH1R TGFBR2
4	adipose tissue	MP:0005375	9.76	CD36 COL1A1 COL1A2 TGFBR2
5	digestive/alimentary	MP:0005381	9.67	CD36 COL1A1 PTH1R TGFBR2
6	liver/biliary system	MP:0005370	9.56	CD36 COL1A1 PTH1R TGFBR2
7	muscle	MP:0005369	9.46	CD36 COL1A1 COL1A2 TGFBR2
8	skeleton	MP:0005390	9.43	CD36 COL1A1 COL1A2 CRTAP PTH1R TGFBR2
9	vision/eye	MP:0005391	8.92	CD36 COL1A1 PTH1R TGFBR2

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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 ³⁰	CRTAP

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Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

⁴²

Bone, Eye

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Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

#	Title	Authors	Year
1	CRTAP mutation in a patient with Cole-Carpenter syndrome. ( 25604815 )	Balasubramanian M...Bishop NJ	2015
2	Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. ( 23054245 )	Shaheen R...Alkuraya FS	2012
3	Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. ( 21955071 )	Valli M...Mottes M	2012
4	CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ( 19895918 )	Fratzl-Zelman N...Roschger P	2010
5	Intravenous pamidronate in osteogenesis imperfecta type VII. ( 19137231 )	Cheung MS...Rauch F	2009
6	CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. ( 17055431 )	Morello R...Lee B	2006
7	Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. ( 17192541 )	Barnes AM...Marini JC	2006
8	Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. ( 12110406 )	Ward LM...Glorieux FH	2002
9	Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. ( 12110407 )	Labuda M...Glorieux FH	2002

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Genes for Osteogenesis Imperfecta, Type Vii

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRTAP	Cartilage Associated Protein	Protein Coding	1324.79	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	12110406 17055431 17192541 (more) 23054245 21955071 25604815
2	CD36	CD36 Molecule	Protein Coding	17.38	GeneCards inferred via : Publications (show sections)
3	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	14.52	DISEASES inferred ¹⁵
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	13.75	DISEASES inferred ¹⁵
5	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	13.75	DISEASES inferred ¹⁵
6	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	13.74	DISEASES inferred ¹⁵

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Variations for Osteogenesis Imperfecta, Type Vii

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

⁷⁶

#	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

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

⁶ (show top 50) (show all 92)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CRTAP	CRTAP, IVS1, -1021C-G	single nucleotide variant	Pathogenic
2	CRTAP	NM_006371.4(CRTAP): c.879delT (p.Phe293Leufs)	deletion	Pathogenic		GRCh37	Chromosome 3, 33171516: 33171516
3	CRTAP	NM_006371.4(CRTAP): c.879delT (p.Phe293Leufs)	deletion	Pathogenic		GRCh38	Chromosome 3, 33130024: 33130024
4	CRTAP	NM_006371.4(CRTAP): c.471+1G> C	single nucleotide variant	Pathogenic		GRCh37	Chromosome 3, 33156041: 33156041
5	CRTAP	NM_006371.4(CRTAP): c.471+1G> C	single nucleotide variant	Pathogenic		GRCh38	Chromosome 3, 33114549: 33114549
6	CRTAP	NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter)	single nucleotide variant	Pathogenic	rs72659361	GRCh37	Chromosome 3, 33171463: 33171463
7	CRTAP	NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter)	single nucleotide variant	Pathogenic	rs72659361	GRCh38	Chromosome 3, 33129971: 33129971
8	CRTAP	NM_006371.4(CRTAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs72659357	GRCh37	Chromosome 3, 33155572: 33155572
9	CRTAP	NM_006371.4(CRTAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs72659357	GRCh38	Chromosome 3, 33114080: 33114080
10	CRTAP	CRTAP, 16-BP DUP	duplication	Pathogenic
11	CRTAP	NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117)	indel	Pathogenic	rs387907333	GRCh37	Chromosome 3, 33155687: 33155702
12	CRTAP	NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117)	indel	Pathogenic	rs387907333	GRCh38	Chromosome 3, 33114195: 33114210
13	CRTAP	NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter)	single nucleotide variant	Pathogenic	rs387907334	GRCh37	Chromosome 3, 33161925: 33161925
14	CRTAP	NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter)	single nucleotide variant	Pathogenic	rs387907334	GRCh38	Chromosome 3, 33120433: 33120433
15	CRTAP	NM_006371.4(CRTAP): c.213G> A (p.Leu71=)	single nucleotide variant	Benign	rs11558338	GRCh37	Chromosome 3, 33155782: 33155782
16	CRTAP	NM_006371.4(CRTAP): c.213G> A (p.Leu71=)	single nucleotide variant	Benign	rs11558338	GRCh38	Chromosome 3, 33114290: 33114290
17	CRTAP	NM_006371.4(CRTAP): c.534C> T (p.Asp178=)	single nucleotide variant	Benign	rs4076086	GRCh37	Chromosome 3, 33161898: 33161898
18	CRTAP	NM_006371.4(CRTAP): c.534C> T (p.Asp178=)	single nucleotide variant	Benign	rs4076086	GRCh38	Chromosome 3, 33120406: 33120406
19	CRTAP	NM_006371.4(CRTAP): c.558A> G (p.Ala186=)	single nucleotide variant	Benign/Likely benign	rs35357409	GRCh37	Chromosome 3, 33161922: 33161922
20	CRTAP	NM_006371.4(CRTAP): c.558A> G (p.Ala186=)	single nucleotide variant	Benign/Likely benign	rs35357409	GRCh38	Chromosome 3, 33120430: 33120430
21	CRTAP	NM_006371.4(CRTAP): c.471+2C> A	single nucleotide variant	Pathogenic	rs137853943	GRCh37	Chromosome 3, 33156042: 33156042
22	CRTAP	NM_006371.4(CRTAP): c.471+2C> A	single nucleotide variant	Pathogenic	rs137853943	GRCh38	Chromosome 3, 33114550: 33114550
23	CRTAP	NM_006371.4(CRTAP): c.471+2C> G	single nucleotide variant	Likely pathogenic	rs137853943	GRCh37	Chromosome 3, 33156042: 33156042
24	CRTAP	NM_006371.4(CRTAP): c.471+2C> G	single nucleotide variant	Likely pathogenic	rs137853943	GRCh38	Chromosome 3, 33114550: 33114550
25	CRTAP	NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs863225043	GRCh38	Chromosome 3, 33114195: 33114195
26	CRTAP	NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs863225043	GRCh37	Chromosome 3, 33155687: 33155687
27	CRTAP	NM_006371.4(CRTAP): c.1032T> G (p.Thr344=)	single nucleotide variant	Benign	rs1135127	GRCh38	Chromosome 3, 33132664: 33132664
28	CRTAP	NM_006371.4(CRTAP): c.1032T> G (p.Thr344=)	single nucleotide variant	Benign	rs1135127	GRCh37	Chromosome 3, 33174156: 33174156
29	CRTAP	NM_006371.4(CRTAP): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1135128	GRCh37	Chromosome 3, 33174168: 33174168
30	CRTAP	NM_006371.4(CRTAP): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1135128	GRCh38	Chromosome 3, 33132676: 33132676
31	CRTAP	NM_006371.4(CRTAP): c.641T> C (p.Val214Ala)	single nucleotide variant	Benign/Likely benign	rs146124454	GRCh37	Chromosome 3, 33165919: 33165919
32	CRTAP	NM_006371.4(CRTAP): c.641T> C (p.Val214Ala)	single nucleotide variant	Benign/Likely benign	rs146124454	GRCh38	Chromosome 3, 33124427: 33124427
33	CRTAP	NM_006371.4(CRTAP): c.732C> T (p.Leu244=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149119710	GRCh37	Chromosome 3, 33166010: 33166010
34	CRTAP	NM_006371.4(CRTAP): c.732C> T (p.Leu244=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149119710	GRCh38	Chromosome 3, 33124518: 33124518
35	CRTAP	NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys)	single nucleotide variant	Uncertain significance	rs768012717	GRCh38	Chromosome 3, 33114220: 33114220
36	CRTAP	NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys)	single nucleotide variant	Uncertain significance	rs768012717	GRCh37	Chromosome 3, 33155712: 33155712
37	CRTAP	NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg)	single nucleotide variant	Uncertain significance	rs201564256	GRCh38	Chromosome 3, 33114523: 33114523
38	CRTAP	NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg)	single nucleotide variant	Uncertain significance	rs201564256	GRCh37	Chromosome 3, 33156015: 33156015
39	CRTAP	NM_006371.4(CRTAP): c.636A> C (p.Arg212=)	single nucleotide variant	Likely benign	rs749259974	GRCh37	Chromosome 3, 33165914: 33165914
40	CRTAP	NM_006371.4(CRTAP): c.636A> C (p.Arg212=)	single nucleotide variant	Likely benign	rs749259974	GRCh38	Chromosome 3, 33124422: 33124422
41	CRTAP	NM_006371.4(CRTAP): c.451C> G (p.Leu151Val)	single nucleotide variant	Uncertain significance	rs202118861	GRCh37	Chromosome 3, 33156020: 33156020
42	CRTAP	NM_006371.4(CRTAP): c.451C> G (p.Leu151Val)	single nucleotide variant	Uncertain significance	rs202118861	GRCh38	Chromosome 3, 33114528: 33114528
43	CRTAP	NM_006371.4(CRTAP): c.1152+5G> C	single nucleotide variant	Uncertain significance	rs1553617810	GRCh37	Chromosome 3, 33175762: 33175762
44	CRTAP	NM_006371.4(CRTAP): c.1152+5G> C	single nucleotide variant	Uncertain significance	rs1553617810	GRCh38	Chromosome 3, 33134270: 33134270
45	CRTAP	NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115198029	GRCh37	Chromosome 3, 33174163: 33174163
46	CRTAP	NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115198029	GRCh38	Chromosome 3, 33132671: 33132671
47	CRTAP	NM_006371.4(CRTAP): c.396C> G (p.Ser132=)	single nucleotide variant	Likely benign	rs1453368481	GRCh37	Chromosome 3, 33155965: 33155965
48	CRTAP	NM_006371.4(CRTAP): c.396C> G (p.Ser132=)	single nucleotide variant	Likely benign	rs1453368481	GRCh38	Chromosome 3, 33114473: 33114473
49	CRTAP	NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter)	single nucleotide variant	Pathogenic	rs972668240	GRCh37	Chromosome 3, 33156013: 33156013
50	CRTAP	NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter)	single nucleotide variant	Pathogenic	rs972668240	GRCh38	Chromosome 3, 33114521: 33114521

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Expression for Osteogenesis Imperfecta, Type Vii

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

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Pathways for Osteogenesis Imperfecta, Type Vii

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

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁵ Show member pathways FAK1 Signaling ⁶⁵ GnRH Signaling ⁶⁵ Inhibition of Angiogenesis by TSP1 ⁶⁵ Transendothelial Migration of Leukocytes ⁶⁵ UPA-UPAR Pathway ⁶⁵	12.98	CD36 COL1A1 COL1A2 TGFBR2
2	Collagen chain trimerization ⁶⁷ Show member pathways Anchoring fibril formation ⁶⁷ Assembly of collagen fibrils and other multimeric structures ⁶⁷ Blood Coagulation Cascade ⁶⁵ Collagen biosynthesis and modifying enzymes ⁶⁷ Collagen formation ⁶⁷ Crosslinking of collagen fibrils ⁶⁷ Intrinsic Prothrombin Activation Pathway ⁶⁵ Protein digestion and absorption ³⁸	12.45	COL1A1 COL1A2 CRTAP
3	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.35	COL1A1 COL1A2 CRTAP
4	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	11.69	CD36 COL1A1 COL1A2
5	Interleukin-4 and 13 signaling ⁶⁷	11.62	CD36 COL1A2
6	Amoebiasis ³⁸	11.54	COL1A1 COL1A2
7	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁷ Show member pathways Scavenging by Class A Receptors ⁶⁷ Scavenging by Class B Receptors ⁶⁷ Scavenging by Class F Receptors ⁶⁷ Scavenging by Class H Receptors ⁶⁷ Scavenging of heme from plasma ⁶⁷	11.45	CD36 COL1A1 COL1A2
8	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.33	COL1A1 COL1A2 TGFBR2
9	IL4-mediated signaling events ¹	11.31	COL1A1 COL1A2
10	Cell adhesion_ECM remodeling ²³	11.28	COL1A1 COL1A2
11	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²³	11.13	COL1A1 PTH1R
12	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²³	11.06	COL1A1 COL1A2
13	Inflammatory Response Pathway ¹	10.95	COL1A1 COL1A2
14	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶²	10.84	CD36 COL1A1 COL1A2
15	VEGFR3 signaling in lymphatic endothelium ¹	10.77	COL1A1 COL1A2
16	Osteoblast Signaling ¹	10.51	COL1A1 PTH1R
17	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	10.39	COL1A1 COL1A2 PTH1R

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	endoplasmic reticulum lumen	GO:0005788	9.33	COL1A1 COL1A2 CRTAP
2	collagen trimer	GO:0005581	9.32	COL1A1 COL1A2
3	brush border membrane	GO:0031526	9.26	CD36 PTH1R
4	receptor complex	GO:0043235	9.13	CD36 PTH1R TGFBR2
5	collagen type I trimer	GO:0005584	8.62	COL1A1 COL1A2

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet activation	GO:0030168	9.56	COL1A1 COL1A2
2	transforming growth factor beta receptor signaling pathway	GO:0007179	9.55	COL1A2 TGFBR2
3	wound healing	GO:0042060	9.54	COL1A1 TGFBR2
4	ossification	GO:0001503	9.52	COL1A1 PTH1R
5	response to nutrient	GO:0007584	9.51	COL1A1 TGFBR2
6	blood coagulation	GO:0007596	9.5	CD36 COL1A1 COL1A2
7	response to mechanical stimulus	GO:0009612	9.49	COL1A1 TGFBR2
8	cellular response to amino acid stimulus	GO:0071230	9.48	COL1A1 COL1A2
9	collagen fibril organization	GO:0030199	9.46	COL1A1 COL1A2
10	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.43	COL1A1 TGFBR2
11	skeletal system development	GO:0001501	9.43	COL1A1 COL1A2 PTH1R
12	response to steroid hormone	GO:0048545	9.4	COL1A1 TGFBR2
13	positive regulation of reactive oxygen species metabolic process	GO:2000379	9.37	CD36 TGFBR2
14	protein heterotrimerization	GO:0070208	9.16	COL1A1 COL1A2
15	skin morphogenesis	GO:0043589	8.96	COL1A1 COL1A2
16	blood vessel development	GO:0001568	8.8	COL1A1 COL1A2 TGFBR2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:0002020	9.32	COL1A1 COL1A2
2	SMAD binding	GO:0046332	9.26	COL1A2 TGFBR2
3	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.16	COL1A1 COL1A2
4	transforming growth factor beta binding	GO:0050431	8.96	CD36 TGFBR2
5	platelet-derived growth factor binding	GO:0048407	8.62	COL1A1 COL1A2

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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 Ii 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

Articles related to Osteogenesis Imperfecta, Type Vii:

Genes for Osteogenesis Imperfecta, Type Vii

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

Variations for Osteogenesis Imperfecta, Type Vii

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

ClinVar 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