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

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Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii ⁵⁷ ¹² ³⁸

Osteogenesis Imperfecta Type Vii ¹¹ ¹⁹ ⁷³ ⁴³ ⁷¹

Osteogenesis Imperfecta Type 7 ¹¹ ²⁸ ⁵ ¹⁴

Oi7 ⁵⁷ ¹¹ ⁷³

Oi Type Vii ¹⁹ ⁷³

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive ⁷³

Osteogenesis Imperfecta Type Ii Autosomal Recessive ⁷³

Osteogenesis Imperfecta, Type Iib, Formerly ⁵⁷

Osteogenesis Imperfecta Type Iib ⁷³

Osteogenesis Imperfecta 7 ⁷³

Oi2b, Formerly ⁵⁷

Oi, Type Vii ⁵⁷

Oi Type Iib ⁷³

Oi Type 7 ¹⁹

Oi-Iib ⁷³

Oi-Vii ⁷³

Oi2b ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

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Summaries for Osteogenesis Imperfecta, Type Vii

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

MalaCards based summary: Osteogenesis Imperfecta, Type Vii, also known as osteogenesis imperfecta type vii, is related to osteogenesis imperfecta, type ii and osteogenesis imperfecta, type vi. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone, lung and kidney, and related phenotypes are scoliosis and osteopenia

GARD: ¹⁹ Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OMIM®: ⁵⁷ Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). (610682) (Updated 08-Dec-2022)

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

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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:

(show all 45)

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

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

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

³⁰ (show all 28)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
scoliosis
vertebral compression fractures

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

Head And Neck Face:
long philtrum
round face

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta

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

Genitourinary Kidneys:
hydronephrosis

Head And Neck Eyes:
proptosis
bluish sclerae

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

Skeletal Pelvis:
coxa vara
protrusio acetabulae

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Clinical features from OMIM®:

610682 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

⁴⁵

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

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

Cochrane evidence based reviews: osteogenesis imperfecta type vii

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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 ²⁸	CRTAP

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Anatomical Context for Osteogenesis Imperfecta, Type Vii

Organs/tissues related to Osteogenesis Imperfecta, Type Vii:

MalaCards : Bone, Lung, Kidney, Skin

ODiseA: Respiratory System-Lung, Respiratory System, Kidney

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Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

(show all 28)

#	Title	Authors	PMID	Year
1	Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. ⁶² ⁵⁷ ⁵	Ward LM...Glorieux FH	12110406	2002
2	CRTAP mutation in a patient with Cole-Carpenter syndrome. ⁵⁷ ⁵	Balasubramanian M...Bishop NJ	25604815	2015
3	Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. ⁵⁷ ⁵	Valli M...Mottes M	21955071	2012
4	Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. ⁵⁷ ⁵	Shaheen R...Alkuraya FS	23054245	2012
5	Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. ⁵⁷ ⁵	Barnes AM...Marini JC	17192541	2006
6	CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. ⁵⁷ ⁵	Morello R...Lee B	17055431	2006
7	Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. ⁶² ⁵⁷	Labuda M...Glorieux FH	12110407	2002
8	Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. ⁵	Caparros-Martin JA...Ruiz-Perez VL	28116328	2017
9	Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. ⁵	Van Dijk FS...Sillence DO	24715559	2014
10	Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. ⁵	Marini JC...Barnes AM	19862557	2010
11	Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. ⁵	Chang W...Marini JC	19846465	2010
12	CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. ⁵	Van Dijk FS...Pals G	19550437	2009
13	Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ⁵	Bodian DL...Klein TE	18996919	2009
14	CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. ⁵	Baldridge D...Lee B	18566967	2008
15	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
16	Anesthetic management of ventricular-peritoneal shunt implantation in osteogenesis imperfecta type IIB: A case report. ⁶²	To M...Kakinohana M	35029899	2022
17	Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII. ⁶²	Xu H...Hatch NE	32133710	2020
18	Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective. ⁶²	Gagliardi A...Bianchi L	28802583	2017
19	Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. ⁶²	Seyedhassani SM...Yassaee VR	27362741	2016
20	Targeted carrier screening for four recessive disorders: high detection rate within a founder population. ⁶²	Mathijssen IB...van Maarle MC	25641760	2015
21	CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ⁶²	Fratzl-Zelman N...Roschger P	19895918	2010
22	Classification of Osteogenesis Imperfecta revisited. ⁶²	Van Dijk FS...Cobben JM	19878741	2010
23	Intravenous pamidronate in osteogenesis imperfecta type VII. ⁶²	Cheung MS...Rauch F	19137231	2009
24	Prenatal diagnosis of osteogenesis imperfecta type II. ⁶²	Tongsong T...Siriangkul S	9622170	1998
25	The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. ⁶²	Cole WG...Bateman JF	2121988	1990
26	Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta. ⁶²	Pendola F...Superti-Furga A	2332008	1990
27	[Bone scintigraphy in children from the surgical and orthopedic viewpoints]. ⁶²	Diaz Martinez A...Carro GA	6613275	1983
28	Glycosaminoglycan synthesis in skin fibroblasts from patients with osteogenesis imperfecta. ⁶²	Kapoor R...Prehm P	6825845	1983

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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	PubMed IDs
1	CRTAP	Cartilage Associated Protein	Protein Coding	1332.28	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12110406 16199547 17055431 (more) 17192541 18566967 18996919 19550437 19862557 21955071 23054245 24715559 25604815 28116328
2	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	6.61	DISEASES inferred ¹⁴
3	PPIB	Peptidylprolyl Isomerase B	Protein Coding	5.77	DISEASES inferred ¹⁴
4	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	5.22	DISEASES inferred ¹⁴
5	SOST	Sclerostin	Protein Coding	5.03	DISEASES inferred ¹⁴
6	MTRNR2L1	MT-RNR2 Like 1 (Pseudogene)	Pseudogene	4.84	DISEASES inferred ¹⁴
7	CCDC134	Coiled-Coil Domain Containing 134	Protein Coding	4.82	DISEASES inferred ¹⁴
8	IFITM5	Interferon Induced Transmembrane Protein 5	Protein Coding	4.79	DISEASES inferred ¹⁴

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Variations for Osteogenesis Imperfecta, Type Vii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

⁵ (show top 50) (show all 376)

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

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

⁷³

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

Sources

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:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.26	PPIB P3H1 CRTAP COL1A1
2	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.1	PPIB P3H1 CRTAP COL1A1
3	Syndecan-1-mediated signaling events ⁶¹	10.8	PPIB COL1A1
4	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.54	PPIB P3H1 IFITM5 CRTAP COL1A1
5	procollagen hydroxylation and glycosylation ⁶¹	9.91	PPIB P3H1

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	protein-containing complex	GO:0032991	9.86	CRTAP P3H1 PPIB SOST
2	endoplasmic reticulum	GO:0005783	9.81	PPIB P3H1 CRTAP COL1A1 CCDC134
3	extracellular region	GO:0005576	9.61	SOST P3H1 MTRNR2L1 CRTAP COL1A1 CCDC134
4	endoplasmic reticulum lumen	GO:0005788	9.23	PPIB P3H1 CRTAP COL1A1

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

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

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

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

Sources

Sources for Osteogenesis Imperfecta, Type Vii

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

OI7 MCID: OST119 MIFTS: 48	Osteogenesis Imperfecta, Type Vii (OI7) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Osteogenesis Imperfecta, Type Vii (OI7)

Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Characteristics:

Inheritance:

OMIM®:

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

Cochrane evidence based reviews: 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

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

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