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

OI7 MCID: OST119 MIFTS: 37	Osteogenesis Imperfecta, Type Vii (OI7) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 ⁵⁶ ¹³

Osteogenesis Imperfecta Type Vii ¹² ⁵² ⁷³ ³⁹ ⁷¹

Osteogenesis Imperfecta Type 7 ¹² ²⁹ ⁶ ¹⁵

Oi7 ⁵⁶ ¹² ⁷³

Oi Type Vii ⁵² ⁷³

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive ⁷³

Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly ⁵⁶

Osteogenesis Imperfecta Type Ii Autosomal Recessive ⁷³

Osteogenesis Imperfecta, Type Iib, Formerly ⁵⁶

Osteogenesis Imperfecta Type Iib ⁷³

Osteogenesis Imperfecta 7 ⁷³

Oi2b, Formerly ⁵⁶

Oi, Type Vii ⁵⁶

Oi Type Iib ⁷³

Oi Type 7 ⁵²

Oi-Iib ⁷³

Oi-Vii ⁷³

Oi2b ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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

Classifications:

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: 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 ⁵⁶ 610682

OMIM Phenotypic Series ⁵⁶ PS166200

MeSH ⁴³ D010013

ICD10 ³² Q78.0

MedGen ⁴¹ C1853162

UMLS ⁷¹ C1853162

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Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : ⁷³ Osteogenesis imperfecta 7: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.

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

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

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

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Related Diseases for Osteogenesis Imperfecta, Type Vii

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv	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

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	32.0	CRTAP CD36
2	brittle bone disorder	30.0	CRTAP CD36
3	coxa vara	10.1
4	autosomal recessive disease	10.1
5	bone disease	10.1
6	tooth ankylosis	10.1
7	ankylosis	10.1
8	col1a1/2 osteogenesis imperfecta	10.1
9	osteogenesis imperfecta, type i	9.9	CRTAP CD36
10	bruck syndrome	9.8	CRTAP CD36
11	osteogenesis imperfecta, type iii	9.7	CRTAP CD36
12	osteogenesis imperfecta, type iv	9.4	HLX CRTAP CD36

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	rhizomelia ³¹	HP:0008905
19	multiple rib fractures ³¹	HP:0006640
20	vertebral compression fractures ³¹	HP:0002953
21	crumpled long bones ³¹	HP:0006367
22	bowing of the legs ³¹	HP:0002979
23	breech presentation ³¹	HP:0001623
24	wide cranial sutures ³¹	HP:0010537
25	multiple prenatal fractures ³¹	HP:0005855
26	absent pulmonary artery ³¹	HP:0004960
27	externally rotated/abducted legs ³¹	HP:0003783
28	hypoplastic pulmonary veins ³¹	HP:0005304

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Spine:
scoliosis
vertebral compression fractures

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

Head And Neck Face:
long philtrum
round face

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta

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

Genitourinary Kidneys:
hydronephrosis

Head And Neck Eyes:
proptosis
bluish sclerae

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

Skeletal Pelvis:
coxa vara
protrusio acetabulae

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Clinical features from OMIM:

610682

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

²⁶

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

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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 25)

#	Title	Authors	PMID	Year
1	Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. ⁶¹ ⁵⁶ ⁶	Ward LM...Glorieux FH	12110406	2002
2	CRTAP mutation in a patient with Cole-Carpenter syndrome. ⁶ ⁵⁶	Balasubramanian M...Bishop NJ	25604815	2015
3	Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. ⁶ ⁵⁶	Valli M...Mottes M	21955071	2012
4	Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. ⁵⁶ ⁶	Shaheen R...Alkuraya FS	23054245	2012
5	Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. ⁶ ⁵⁶	Barnes AM...Marini JC	17192541	2006
6	CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. ⁶ ⁵⁶	Morello R...Lee B	17055431	2006
7	Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. ⁶¹ ⁵⁶	Labuda M...Glorieux FH	12110407	2002
8	Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. ⁶	Swinnen FK...Dhooge IJ	19358256	2009
9	Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ⁶	Bodian DL...Klein TE	18996919	2009
10	Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. ⁶	Roschger P...Rauch F	18311573	2008
11	Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. ⁶	Marini JC...Byers PH	17078022	2007
12	Osteogenesis imperfecta: clinical, biochemical and molecular findings. ⁶	Venturi G...Tato L	16879195	2006
13	COL1A1/2 Osteogenesis Imperfecta ⁶	Steiner RD...Basel D	20301472	2005
14	Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. ⁶	Hartikka H...Ala-Kokko L	15241796	2004
15	Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. ⁶	Ries-Levavi L...Friedman E	15024745	2004
16	Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. ⁶	Ward LM...Glorieux FH	11317364	2001
17	Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ⁶	Ries L...Friedman E	11113887	2000
18	Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. ⁶	Zhuang J...Prockop DJ	8669434	1996
19	Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. ⁶	Willing MC...Roberts EJ	7942841	1994
20	Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. ⁶	Pruchno CJ...Byers PH	2037280	1991
21	The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. ⁶	de Vries WN...de Wet WJ	3722186	1986
22	Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. ⁶	Weisinger B...Berger A	1137656	1975
23	Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. ⁶¹	Xu H...Hatch NE	32133710	2020
24	CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ⁶¹	Fratzl-Zelman N...Roschger P	19895918	2010
25	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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRTAP	Cartilage Associated Protein	Protein Coding	1313.9	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	23054245 25604815 17192541 (more) 17055431 21955071 12110406
2	CD36	CD36 Molecule	Protein Coding	6.81	GeneCards inferred via : Publications (show sections)
3	TNFSF15	TNF Superfamily Member 15	Protein Coding	5.89	DISEASES inferred ¹⁵
4	PPL	Periplakin	Protein Coding	5.77	DISEASES inferred ¹⁵
5	HLX	H2.0 Like Homeobox	Protein Coding	5.31	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 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRTAP	NM_006371.4(CRTAP):c.444C>G (p.Tyr148Ter)	SNV	Pathogenic	465810	rs972668240	3:33156013-33156013	3:33114521-33114521
2	CRTAP	NM_006371.4(CRTAP):c.198C>A (p.Tyr66Ter)	SNV	Pathogenic	658698		3:33155767-33155767	3:33114275-33114275
3	CRTAP	NM_006371.4(CRTAP):c.320_321delGC	short repeat	Pathogenic	660744		3:33155887-33155888	3:33114395-33114396
4	CRTAP	NM_006371.5(CRTAP):c.8del (p.Pro3fs)	deletion	Pathogenic	855093		3:33155576-33155576	3:33114084-33114084
5	CRTAP	NC_000003.12:g.(?_33096991)_(33124599_?)del	deletion	Pathogenic	639876		3:33138483-33166091	3:33096991-33124599
6	CRTAP	NC_000003.12:g.(?_33114058)_(33124599_?)del	deletion	Pathogenic	832169		3:33155550-33166091
7	CRTAP	NM_006371.4(CRTAP):c.471+1G>C	SNV	Pathogenic	4949	rs72659359	3:33156041-33156041	3:33114549-33114549
8	CRTAP	NM_006371.4(CRTAP):c.879del (p.Phe293fs)	deletion	Pathogenic	4948	rs72659362	3:33171514-33171514	3:33130022-33130022
9	CRTAP	CRTAP, IVS1, -1021C-G	SNV	Pathogenic	4947
10	CRTAP	NM_006371.4(CRTAP):c.826C>T (p.Gln276Ter)	SNV	Pathogenic	4950	rs72659361	3:33171463-33171463	3:33129971-33129971
11	CRTAP	NM_006371.4(CRTAP):c.3G>A (p.Met1Ile)	SNV	Pathogenic	4951	rs72659357	3:33155572-33155572	3:33114080-33114080
12	CRTAP	CRTAP, 16-BP DUP	duplication	Pathogenic	4952
13	CRTAP	NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)	indel	Pathogenic	41922	rs387907333	3:33155687-33155702	3:33114195-33114210
14	CRTAP	NM_006371.4(CRTAP):c.561T>G (p.Tyr187Ter)	SNV	Pathogenic	41923	rs387907334	3:33161925-33161925	3:33120433-33120433
15	CRTAP	NM_006371.4(CRTAP):c.118G>T (p.Glu40Ter)	SNV	Pathogenic	217257	rs863225043	3:33155687-33155687	3:33114195-33114195
16	CRTAP	NM_006371.5(CRTAP):c.471+2C>A	SNV	Pathogenic/Likely pathogenic	208570	rs137853943	3:33156042-33156042	3:33114550-33114550
17	CRTAP	NM_006371.4(CRTAP):c.471+2C>G	SNV	Likely pathogenic	212732	rs137853943	3:33156042-33156042	3:33114550-33114550
18	CRTAP	NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter)	SNV	Conflicting interpretations of pathogenicity	344809	rs137853944	3:33165912-33165912	3:33124420-33124420
19	CRTAP	NM_006371.4(CRTAP):c.-35C>T	SNV	Conflicting interpretations of pathogenicity	344802	rs567359532	3:33155535-33155535	3:33114043-33114043
20	CRTAP	NM_006371.4(CRTAP):c.732C>T (p.Leu244=)	SNV	Conflicting interpretations of pathogenicity	284911	rs149119710	3:33166010-33166010	3:33124518-33124518
21	CRTAP	NM_006371.4(CRTAP):c.654C>T (p.Asn218=)	SNV	Conflicting interpretations of pathogenicity	465813	rs144486582	3:33165932-33165932	3:33124440-33124440
22	CRTAP	NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe)	SNV	Conflicting interpretations of pathogenicity	439559	rs115198029	3:33174163-33174163	3:33132671-33132671
23	CRTAP	NM_006371.4(CRTAP):c.1152+10del	deletion	Uncertain significance	465806	rs1167597599	3:33175767-33175767	3:33134275-33134275
24	CRTAP	NM_006371.4(CRTAP):c.92A>G (p.Tyr31Cys)	SNV	Uncertain significance	534207	rs372115693	3:33155661-33155661	3:33114169-33114169
25	CRTAP	NM_006371.4(CRTAP):c.451C>G (p.Leu151Val)	SNV	Uncertain significance	429858	rs202118861	3:33156020-33156020	3:33114528-33114528
26	CRTAP	NM_006371.4(CRTAP):c.1152+5G>C	SNV	Uncertain significance	437923	rs1553617810	3:33175762-33175762	3:33134270-33134270
27	CRTAP	NM_006371.4(CRTAP):c.289G>C (p.Ala97Pro)	SNV	Uncertain significance	439558	rs200243989	3:33155858-33155858	3:33114366-33114366
28	CRTAP	NM_006371.4(CRTAP):c.866C>T (p.Pro289Leu)	SNV	Uncertain significance	534205	rs147140948	3:33171503-33171503	3:33130011-33130011
29	CRTAP	NM_006371.4(CRTAP):c.380C>A (p.Pro127Gln)	SNV	Uncertain significance	640162		3:33155949-33155949	3:33114457-33114457
30	CRTAP	NM_006371.4(CRTAP):c.388C>T (p.Arg130Cys)	SNV	Uncertain significance	643201		3:33155957-33155957	3:33114465-33114465
31	CRTAP	NM_006371.4(CRTAP):c.535G>A (p.Glu179Lys)	SNV	Uncertain significance	665607		3:33161899-33161899	3:33120407-33120407
32	CRTAP	NM_006371.4(CRTAP):c.643C>T (p.Arg215Trp)	SNV	Uncertain significance	649807		3:33165921-33165921	3:33124429-33124429
33	CRTAP	NM_006371.4(CRTAP):c.724G>A (p.Glu242Lys)	SNV	Uncertain significance	666050		3:33166002-33166002	3:33124510-33124510
34	CRTAP	NM_006371.4(CRTAP):c.760A>G (p.Lys254Glu)	SNV	Uncertain significance	640796		3:33166038-33166038	3:33124546-33124546
35	CRTAP	NM_006371.4(CRTAP):c.622-3C>G	SNV	Uncertain significance	640677		3:33165897-33165897	3:33124405-33124405
36	CRTAP	NM_006371.4(CRTAP):c.70G>A (p.Gly24Arg)	SNV	Uncertain significance	639694		3:33155639-33155639	3:33114147-33114147
37	CRTAP	NM_006371.4(CRTAP):c.85G>C (p.Glu29Gln)	SNV	Uncertain significance	639500		3:33155654-33155654	3:33114162-33114162
38	CRTAP	NM_006371.4(CRTAP):c.101_109dup (p.Arg34_Phe36dup)	duplication	Uncertain significance	644126		3:33155661-33155662	3:33114169-33114170
39	CRTAP	NM_006371.4(CRTAP):c.131T>C (p.Leu44Pro)	SNV	Uncertain significance	534203	rs772784211	3:33155700-33155700	3:33114208-33114208
40	CRTAP	NM_006371.4(CRTAP):c.751A>G (p.Arg251Gly)	SNV	Uncertain significance	534206	rs1351893746	3:33166029-33166029	3:33124537-33124537
41	CRTAP	NM_006371.4(CRTAP):c.88C>T (p.Arg30Cys)	SNV	Uncertain significance	534204	rs553076085	3:33155657-33155657	3:33114165-33114165
42	CRTAP	NM_006371.4(CRTAP):c.239G>A (p.Ser80Asn)	SNV	Uncertain significance	572411	rs754916341	3:33155808-33155808	3:33114316-33114316
43	CRTAP	NM_006371.4(CRTAP):c.88C>A (p.Arg30Ser)	SNV	Uncertain significance	581625	rs553076085	3:33155657-33155657	3:33114165-33114165
44	CRTAP	NM_006371.4(CRTAP):c.368A>G (p.Lys123Arg)	SNV	Uncertain significance	568933	rs767456804	3:33155937-33155937	3:33114445-33114445
45	CRTAP	NM_006371.4(CRTAP):c.146G>C (p.Arg49Pro)	SNV	Uncertain significance	648321		3:33155715-33155715	3:33114223-33114223
46	CRTAP	NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg)	SNV	Uncertain significance	852993		3:33155737-33155737	3:33114245-33114245
47	CRTAP	NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp)	SNV	Uncertain significance	845981		3:33155739-33155739	3:33114247-33114247
48	CRTAP	NM_006371.5(CRTAP):c.344G>A (p.Arg115His)	SNV	Uncertain significance	850841		3:33155913-33155913	3:33114421-33114421
49	CRTAP	NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr)	SNV	Uncertain significance	811416		3:33155922-33155922	3:33114430-33114430
50	CRTAP	NM_006371.5(CRTAP):c.*50C>G	SNV	Uncertain significance	899774		3:33183990-33183990	3:33142498-33142498

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

⁷³

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

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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

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GO Terms for Osteogenesis Imperfecta, Type Vii

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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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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

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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 Iii 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:

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

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

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

GO Terms for Osteogenesis Imperfecta, Type Vii

Sources for Osteogenesis Imperfecta, Type Vii