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

OI8 MCID: OST118 MIFTS: 44	Osteogenesis Imperfecta, Type Viii (OI8) 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 Viii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Viii:

Name: Osteogenesis Imperfecta, Type Viii ⁵⁸ ¹³

Osteogenesis Imperfecta Type 8 ¹² ⁵⁴ ³⁰ ⁶ ¹⁵

Osteogenesis Imperfecta Type Viii ¹² ⁵⁴ ⁷⁶ ⁴¹

Oi8 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Oi Type Viii ⁵⁴ ⁷⁶

Osteogenesis Imperfecta 8 ⁷⁶

Oi, Type Viii ⁵⁸

Oi-Viii ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

osteogenesis imperfecta, type viii:
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:0110336

OMIM ⁵⁸ 610915

MeSH ⁴⁵ D010013

ICD10 ³⁴ Q78.0

MedGen ⁴³ C1970458

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Summaries for Osteogenesis Imperfecta, Type Viii

OMIM : ⁵⁸ Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. (610915)

MalaCards based summary : Osteogenesis Imperfecta, Type Viii, also known as osteogenesis imperfecta type 8, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Viii is P3H1 (Prolyl 3-Hydroxylase 1), and among its related pathways/superpathways are Collagen chain trimerization and ECM-receptor interaction. Affiliated tissues include bone, and related phenotypes are osteopenia and scoliosis

Disease Ontology : ¹² An osteogenesis imperfecta that has material basis in mutation in the P3H1 gene on chromosome 1p34.2.

UniProtKB/Swiss-Prot : ⁷⁶ Osteogenesis imperfecta 8: 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. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.

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Related Diseases for Osteogenesis Imperfecta, Type Viii

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 Viii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	30.8	COL1A1 COL1A2 CRTAP P3H1
2	brittle bone disorder	29.3	COL1A1 COL1A2 CRTAP P3H1
3	col1a1/2-related osteogenesis imperfecta	10.3
4	pseudoarthrosis	10.1
5	cervical incompetence	9.9	CRTAP P3H1
6	osteogenesis imperfecta, type v	9.9	COL1A1 COL1A2
7	osteogenesis imperfecta, type i	9.9	COL1A1 COL1A2
8	ehlers-danlos/osteogenesis imperfecta syndrome	9.8	COL1A1 COL1A2
9	high bone mass osteogenesis imperfecta	9.8	COL1A1 COL1A2
10	larsen-like syndrome	9.8	COL1A1 COL1A2
11	classic ehlers-danlos syndrome	9.8	COL1A1 COL1A2
12	ehlers-danlos syndrome	9.8	COL1A1 COL1A2
13	scleroderma, familial progressive	9.8	COL1A1 COL1A2
14	ehlers-danlos syndrome, classic type, 1	9.8	COL1A1 COL1A2
15	caffey disease	9.7	COL1A1 COL1A2
16	otosclerosis	9.7	COL1A1 COL1A2
17	spondyloepiphyseal dysplasia congenita	9.7	COL1A1 COL1A2
18	collagen disease	9.6	COL1A1 COL1A2
19	connective tissue disease	9.5	COL1A1 COL1A2 P3H1
20	osteogenesis imperfecta, type vii	9.5	COL1A1 COL1A2 CRTAP
21	scoliosis	9.5	COL1A1 COL1A2
22	osteogenesis imperfecta, type iv	9.5	COL1A1 COL1A2 CRTAP
23	dentinogenesis imperfecta	9.2	COL1A1 COL1A2 CRTAP P3H1
24	osteogenesis imperfecta, type iii	9.2	COL1A1 COL1A2 CRTAP P3H1
25	bruck syndrome	9.2	COL1A1 COL1A2 CRTAP P3H1
26	bone development disease	9.2	COL1A1 COL1A2 CRTAP P3H1

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

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Viii

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

³³ (show all 26)

#	Description	HPO Source Accession
1	osteopenia ³³	HP:0000938
2	scoliosis ³³	HP:0002650
3	kyphosis ³³	HP:0002808
4	inguinal hernia ³³	HP:0000023
5	global developmental delay ³³	HP:0001263
6	platyspondyly ³³	HP:0000926
7	wormian bones ³³	HP:0002645
8	joint laxity ³³	HP:0001388
9	thin ribs ³³	HP:0000883
10	round face ³³	HP:0000311
11	recurrent fractures ³³	HP:0002757
12	disproportionate short-limb short stature ³³	HP:0008873
13	wide anterior fontanel ³³	HP:0000260
14	proptosis ³³	HP:0000520
15	short metacarpal ³³	HP:0010049
16	multiple prenatal fractures ³³	HP:0005855
17	decreased skull ossification ³³	HP:0004331
18	delayed cranial suture closure ³³	HP:0000270
19	femoral bowing ³³	HP:0002980
20	slender long bone ³³	HP:0003100
21	barrel-shaped chest ³³	HP:0001552
22	tibial bowing ³³	HP:0002982
23	radial bowing ³³	HP:0002986
24	vertebral compression fractures ³³	HP:0002953
25	externally rotated/abducted legs ³³	HP:0003783
26	type 1 collagen overmodification ³³	HP:0003784

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Skeletal:
joint laxity
bone fragility
normal bone age
severe osteopenia
multiple fractures, present at birth

Head And Neck Face:
round face

Skeletal Limbs:
femoral bowing
tibial bowing
radial bowing
thin, gracile long bones
externally rotated/abducted legs
more

Growth Height:
short stature, disproportionate
dwarfism, short-limbed

Head And Neck Head:
open sutures
wide open anterior fontanelle
soft skull

Chest External Features:
short, barrel-shaped chest

Skeletal Skull:
wormian bones
poorly ossified skull

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Head And Neck Eyes:
proptosis
white sclerae

Skeletal Hands:
short metacarpals
long phalanges

Neurologic Central Nervous System:
delayed development

Head And Neck Teeth:
no dentinogenesis imperfecta

Laboratory Abnormalities:
type 1 collagen overmodification
absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

Clinical features from OMIM:

610915

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Viii:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	9.16	COL1A1 P3H1
2	limbs/digits/tail	MP:0005371	9.13	COL1A1 COL1A2 P3H1
3	skeleton	MP:0005390	8.92	COL1A1 COL1A2 CRTAP P3H1

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Viii

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

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Genetic Tests for Osteogenesis Imperfecta, Type Viii

Genetic tests related to Osteogenesis Imperfecta, Type Viii:

#	Genetic test	Affiliating Genes
1	Osteogenesis Imperfecta Type 8 ³⁰	P3H1

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Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

⁴²

Bone

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Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

#	Title	Authors	Year
1	Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report. ( 30269195 )	Popkov D	2018
2	Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ( 30322678 )	Zhen L...Li DZ	2018
3	Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )	Huang Y....Wu L.	2017

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Genes for Osteogenesis Imperfecta, Type Viii

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	1026.18	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)	17277775 19088120 22281939
2	CRTAP	Cartilage Associated Protein	Protein Coding	15.16	DISEASES inferred ¹⁵
3	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	15.01	DISEASES inferred ¹⁵
4	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	15	DISEASES inferred ¹⁵

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Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

⁶ (show top 50) (show all 164)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	P3H1	NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs533729683	GRCh37	Chromosome 1, 43212427: 43212427
2	P3H1	NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs533729683	GRCh38	Chromosome 1, 42746756: 42746756
3	P3H1	NM_022356.3(P3H1): c.1080+1G> T	single nucleotide variant	Pathogenic	rs72659351	GRCh37	Chromosome 1, 43223453: 43223453
4	P3H1	NM_022356.3(P3H1): c.1080+1G> T	single nucleotide variant	Pathogenic	rs72659351	GRCh38	Chromosome 1, 42757782: 42757782
5	P3H1	NM_022356.3(P3H1): c.1473+1G> T	single nucleotide variant	Pathogenic	rs72659354	GRCh37	Chromosome 1, 43218207: 43218207
6	P3H1	NM_022356.3(P3H1): c.1473+1G> T	single nucleotide variant	Pathogenic	rs72659354	GRCh38	Chromosome 1, 42752536: 42752536
7	P3H1	NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs)	deletion	Pathogenic	rs72659348	GRCh37	Chromosome 1, 43224933: 43224933
8	P3H1	NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs)	deletion	Pathogenic	rs72659348	GRCh38	Chromosome 1, 42759262: 42759262
9	P3H1	NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter)	single nucleotide variant	Pathogenic	rs72659355	GRCh37	Chromosome 1, 43215921: 43215921
10	P3H1	NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter)	single nucleotide variant	Pathogenic	rs72659355	GRCh38	Chromosome 1, 42750250: 42750250
11	P3H1	NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs)	indel	Pathogenic	rs137853952	GRCh37	Chromosome 1, 43218315: 43218316
12	P3H1	NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs)	indel	Pathogenic	rs137853952	GRCh38	Chromosome 1, 42752644: 42752645
13	P3H1	NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter)	single nucleotide variant	Pathogenic	rs118203996	GRCh37	Chromosome 1, 43221287: 43221287
14	P3H1	NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter)	single nucleotide variant	Pathogenic	rs118203996	GRCh38	Chromosome 1, 42755616: 42755616
15	P3H1	NM_022356.3(P3H1): c.2055+18G> A	single nucleotide variant	Likely pathogenic	rs137853890	GRCh37	Chromosome 1, 43212925: 43212925
16	P3H1	NM_022356.3(P3H1): c.2055+18G> A	single nucleotide variant	Likely pathogenic	rs137853890	GRCh38	Chromosome 1, 42747254: 42747254
17	P3H1	NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs113593896	GRCh37	Chromosome 1, 43220563: 43220563
18	P3H1	NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs113593896	GRCh38	Chromosome 1, 42754892: 42754892
19	P3H1	NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149894086	GRCh37	Chromosome 1, 43217985: 43217985
20	P3H1	NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149894086	GRCh38	Chromosome 1, 42752314: 42752314
21	P3H1	NM_022356.3(P3H1): c.689C> T (p.Ala230Val)	single nucleotide variant	Uncertain significance	rs369342678	GRCh37	Chromosome 1, 43224991: 43224991
22	P3H1	NM_022356.3(P3H1): c.689C> T (p.Ala230Val)	single nucleotide variant	Uncertain significance	rs369342678	GRCh38	Chromosome 1, 42759320: 42759320
23	P3H1	NM_022356.3(P3H1): c.1716C> T (p.Ile572=)	single nucleotide variant	Benign	rs35500164	GRCh37	Chromosome 1, 43215861: 43215861
24	P3H1	NM_022356.3(P3H1): c.1716C> T (p.Ile572=)	single nucleotide variant	Benign	rs35500164	GRCh38	Chromosome 1, 42750190: 42750190
25	P3H1	NM_022356.3(P3H1): c.1473+5G> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114044880	GRCh37	Chromosome 1, 43218203: 43218203
26	P3H1	NM_022356.3(P3H1): c.1473+5G> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs114044880	GRCh38	Chromosome 1, 42752532: 42752532
27	P3H1	NM_022356.3(P3H1): c.1233G> A (p.Arg411=)	single nucleotide variant	Benign	rs61746653	GRCh37	Chromosome 1, 43220652: 43220652
28	P3H1	NM_022356.3(P3H1): c.1233G> A (p.Arg411=)	single nucleotide variant	Benign	rs61746653	GRCh38	Chromosome 1, 42754981: 42754981
29	P3H1	NM_022356.3(P3H1): c.1026C> T (p.Ala342=)	single nucleotide variant	Benign	rs61100157	GRCh38	Chromosome 1, 42757837: 42757837
30	P3H1	NM_022356.3(P3H1): c.1026C> T (p.Ala342=)	single nucleotide variant	Benign	rs61100157	GRCh37	Chromosome 1, 43223508: 43223508
31	P3H1	NM_022356.3(P3H1): c.139G> T (p.Ala47Ser)	single nucleotide variant	Benign	rs55716016	GRCh38	Chromosome 1, 42766833: 42766833
32	P3H1	NM_022356.3(P3H1): c.139G> T (p.Ala47Ser)	single nucleotide variant	Benign	rs55716016	GRCh37	Chromosome 1, 43232504: 43232504
33	P3H1	NM_022356.3(P3H1): c.2115C> T (p.Leu705=)	single nucleotide variant	Benign/Likely benign	rs199887811	GRCh37	Chromosome 1, 43212464: 43212464
34	P3H1	NM_022356.3(P3H1): c.2115C> T (p.Leu705=)	single nucleotide variant	Benign/Likely benign	rs199887811	GRCh38	Chromosome 1, 42746793: 42746793
35	P3H1	NM_022356.3(P3H1): c.1812C> T (p.Pro604=)	single nucleotide variant	Benign	rs34809608	GRCh38	Chromosome 1, 42748226: 42748226
36	P3H1	NM_022356.3(P3H1): c.1812C> T (p.Pro604=)	single nucleotide variant	Benign	rs34809608	GRCh37	Chromosome 1, 43213897: 43213897
37	P3H1	NM_022356.3(P3H1): c.1569+3A> G	single nucleotide variant	Benign	rs76871760	GRCh37	Chromosome 1, 43217942: 43217942
38	P3H1	NM_022356.3(P3H1): c.1569+3A> G	single nucleotide variant	Benign	rs76871760	GRCh38	Chromosome 1, 42752271: 42752271
39	P3H1	NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg)	single nucleotide variant	Benign	rs6700677	GRCh37	Chromosome 1, 43223489: 43223489
40	P3H1	NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg)	single nucleotide variant	Benign	rs6700677	GRCh38	Chromosome 1, 42757818: 42757818
41	P3H1	NM_022356.3(P3H1): c.1284C> T (p.Ile428=)	single nucleotide variant	Benign	rs61746642	GRCh38	Chromosome 1, 42754930: 42754930
42	P3H1	NM_022356.3(P3H1): c.1284C> T (p.Ile428=)	single nucleotide variant	Benign	rs61746642	GRCh37	Chromosome 1, 43220601: 43220601
43	P3H1	NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg)	single nucleotide variant	Uncertain significance	rs139259804	GRCh37	Chromosome 1, 43218010: 43218010
44	P3H1	NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg)	single nucleotide variant	Uncertain significance	rs139259804	GRCh38	Chromosome 1, 42752339: 42752339
45	P3H1	NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn)	single nucleotide variant	Uncertain significance	rs144336336	GRCh37	Chromosome 1, 43213903: 43213903
46	P3H1	NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn)	single nucleotide variant	Uncertain significance	rs144336336	GRCh38	Chromosome 1, 42748232: 42748232
47	P3H1	NM_022356.3(P3H1): c.1428C> T (p.Gly476=)	single nucleotide variant	Benign	rs141786883	GRCh37	Chromosome 1, 43218253: 43218253
48	P3H1	NM_022356.3(P3H1): c.1428C> T (p.Gly476=)	single nucleotide variant	Benign	rs141786883	GRCh38	Chromosome 1, 42752582: 42752582
49	P3H1	NM_022356.3(P3H1): c.1660C> T (p.Arg554Cys)	single nucleotide variant	Uncertain significance	rs138860050	GRCh37	Chromosome 1, 43215917: 43215917
50	P3H1	NM_022356.3(P3H1): c.1660C> T (p.Arg554Cys)	single nucleotide variant	Uncertain significance	rs138860050	GRCh38	Chromosome 1, 42750246: 42750246

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Expression for Osteogenesis Imperfecta, Type Viii

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

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Pathways for Osteogenesis Imperfecta, Type Viii

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

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	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	11.98	COL1A1 COL1A2 CRTAP P3H1
2	ECM-receptor interaction ³⁸ Show member pathways Integrin cell surface interactions ⁶⁷	11.71	COL1A1 COL1A2
3	Platelet activation ³⁸	11.62	COL1A1 COL1A2
4	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	11.58	COL1A1 COL1A2 CRTAP P3H1
5	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	11.53	COL1A1 COL1A2
6	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.49	COL1A1 COL1A2
7	Amoebiasis ³⁸	11.46	COL1A1 COL1A2
8	IL4-mediated signaling events ¹	11.26	COL1A1 COL1A2
9	Cell adhesion_ECM remodeling ²³	11.22	COL1A1 COL1A2
10	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶²	11.11	COL1A1 COL1A2
11	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²³	10.97	COL1A1 COL1A2
12	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	10.91	COL1A1 COL1A2
13	Inflammatory Response Pathway ¹	10.78	COL1A1 COL1A2
14	VEGFR3 signaling in lymphatic endothelium ¹	10.52	COL1A1 COL1A2

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GO Terms for Osteogenesis Imperfecta, Type Viii

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

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum	GO:0005783	9.46	COL1A1 COL1A2 CRTAP P3H1
2	collagen trimer	GO:0005581	9.26	COL1A1 COL1A2
3	collagen type I trimer	GO:0005584	8.96	COL1A1 COL1A2
4	endoplasmic reticulum lumen	GO:0005788	8.92	COL1A1 COL1A2 CRTAP P3H1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of immune response	GO:0050776	9.54	COL1A1 COL1A2
2	extracellular matrix organization	GO:0030198	9.52	COL1A1 COL1A2
3	leukocyte migration	GO:0050900	9.51	COL1A1 COL1A2
4	blood coagulation	GO:0007596	9.49	COL1A1 COL1A2
5	protein stabilization	GO:0050821	9.48	CRTAP P3H1
6	skeletal system development	GO:0001501	9.46	COL1A1 COL1A2
7	platelet activation	GO:0030168	9.43	COL1A1 COL1A2
8	cellular response to amino acid stimulus	GO:0071230	9.4	COL1A1 COL1A2
9	blood vessel development	GO:0001568	9.37	COL1A1 COL1A2
10	collagen fibril organization	GO:0030199	9.32	COL1A1 COL1A2
11	chaperone-mediated protein folding	GO:0061077	9.26	CRTAP P3H1
12	protein heterotrimerization	GO:0070208	9.16	COL1A1 COL1A2
13	skin morphogenesis	GO:0043589	8.96	COL1A1 COL1A2
14	negative regulation of post-translational protein modification	GO:1901874	8.62	CRTAP P3H1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.26	COL1A1 COL1A2
2	protease binding	GO:0002020	9.16	COL1A1 COL1A2
3	extracellular matrix structural constituent conferring tensile strength	GO:0030020	8.96	COL1A1 COL1A2
4	platelet-derived growth factor binding	GO:0048407	8.62	COL1A1 COL1A2

Sources

Sources for Osteogenesis Imperfecta, Type Viii

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 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 Viii (OI8)

Aliases & Classifications for Osteogenesis Imperfecta, Type Viii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Viii:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Osteogenesis Imperfecta, Type Viii

Related Diseases for Osteogenesis Imperfecta, Type Viii

Diseases in the Osteogenesis Imperfecta, Type Ii family:

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

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

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Viii

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Viii:

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Viii

Genetic Tests for Osteogenesis Imperfecta, Type Viii

Genetic tests related to Osteogenesis Imperfecta, Type Viii:

Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

Genes for Osteogenesis Imperfecta, Type Viii

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

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

Expression for Osteogenesis Imperfecta, Type Viii

Pathways for Osteogenesis Imperfecta, Type Viii

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

GO Terms for Osteogenesis Imperfecta, Type Viii

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

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

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

Sources for Osteogenesis Imperfecta, Type Viii