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

OI8 MCID: OST118 MIFTS: 42	Osteogenesis Imperfecta, Type Viii (OI8) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory 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 ⁵⁷ ¹³

Osteogenesis Imperfecta Type 8 ¹² ²⁰ ²⁹ ⁶ ¹⁵

Osteogenesis Imperfecta Type Viii ¹² ²⁰ ⁷³ ³⁹

Oi8 ⁵⁷ ¹² ²⁰ ⁷³

Oi Type Viii ²⁰ ⁷³

Osteogenesis Imperfecta 8 ⁷³

Oi, Type Viii ⁵⁷

Oi-Viii ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

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 Respiratory diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

External Ids:

Disease Ontology ¹² DOID:0110336

OMIM® ⁵⁷ 610915

OMIM Phenotypic Series ⁵⁷ PS166200

MeSH ⁴⁴ D010013

ICD10 ³² Q78.0

MedGen ⁴¹ C1970458

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Summaries for Osteogenesis Imperfecta, Type Viii

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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 Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are scoliosis and kyphosis

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

UniProtKB/Swiss-Prot : ⁷³ 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 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	Osteogenesis Imperfecta, Type Xxi

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	31.7	P3H1 CRTAP
2	brittle bone disorder	29.8	P4HA2 P3H2 P3H1 CRTAP
3	retinal detachment	10.1
4	autosomal recessive disease	10.1
5	osteogenesis imperfecta, type vii	10.1	P3H1 CRTAP
6	fibrogenesis imperfecta ossium	10.0	P3H1 CRTAP
7	boomerang dysplasia	10.0	P3H1 CRTAP
8	mucopolysaccharidosis iv	10.0	P3H1 CRTAP
9	bruck syndrome	10.0	P3H1 CRTAP
10	spondylocarpotarsal synostosis syndrome	10.0	P3H1 CRTAP
11	osteogenesis imperfecta, type iv	9.9	P3H1 CRTAP
12	dentinogenesis imperfecta	9.9	P3H1 CRTAP
13	osteogenesis imperfecta, type x	9.9	P4HA3 P3H2
14	osteogenesis imperfecta, type iii	9.8	P3H1 CRTAP
15	cole-carpenter syndrome	9.8	P4HA2 P3H1 CRTAP
16	bone development disease	9.7	P3H1 CRTAP
17	odontochondrodysplasia	9.7	P3H2 P3H1 CRTAP

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:

³¹ (show all 26)

#	Description	HPO Source Accession
1	scoliosis ³¹	HP:0002650
2	kyphosis ³¹	HP:0002808
3	osteopenia ³¹	HP:0000938
4	global developmental delay ³¹	HP:0001263
5	inguinal hernia ³¹	HP:0000023
6	slender long bone ³¹	HP:0003100
7	joint laxity ³¹	HP:0001388
8	platyspondyly ³¹	HP:0000926
9	recurrent fractures ³¹	HP:0002757
10	proptosis ³¹	HP:0000520
11	round face ³¹	HP:0000311
12	wormian bones ³¹	HP:0002645
13	wide anterior fontanel ³¹	HP:0000260
14	short metacarpal ³¹	HP:0010049
15	delayed cranial suture closure ³¹	HP:0000270
16	disproportionate short-limb short stature ³¹	HP:0008873
17	decreased skull ossification ³¹	HP:0004331
18	thin ribs ³¹	HP:0000883
19	femoral bowing ³¹	HP:0002980
20	vertebral compression fractures ³¹	HP:0002953
21	tibial bowing ³¹	HP:0002982
22	radial bowing ³¹	HP:0002986
23	barrel-shaped chest ³¹	HP:0001552
24	multiple prenatal fractures ³¹	HP:0005855
25	externally rotated/abducted legs ³¹	HP:0003783
26	type 1 collagen overmodification ³¹	HP:0003784

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Head And Neck Eyes:
proptosis
white sclerae

Skeletal Skull:
wormian bones
poorly ossified skull

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

Skeletal Hands:
short metacarpals
long phalanges

Neurologic Central Nervous System:
delayed development

Head And Neck Teeth:
no dentinogenesis imperfecta

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

Head And Neck Face:
round face

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

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

Clinical features from OMIM®:

610915 (Updated 05-Mar-2021)

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-115	9.28	P3H1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.28	P3H1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-187	9.28	P3H2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	9.28	P3H1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-214	9.28	P3H1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.28	P3H1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	9.28	P3H2
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-68	9.28	P3H2
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-74	9.28	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 ²⁹	P3H1

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Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

⁴⁰

Bone

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Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

(show all 12)

#	Title	Authors	PMID	Year
1	A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. ⁵⁷ ⁶	Cabral WA...Marini JC	22281939	2012
2	Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. ⁶ ⁵⁷	Willaert A...De Paepe A	19088120	2009
3	Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. ⁵⁷ ⁶	Cabral WA...Marini JC	17277775	2007
4	Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ⁵⁷	Wallis GA...Beighton P	8100856	1993
5	Osteogenesis imperfecta type III: an ancient mutation in Africa? ⁵⁷	Viljoen D...Beighton P	3425600	1987
6	Genetic heterogeneity in osteogenesis imperfecta. ⁵⁷	Sillence DO...Danks DM	458828	1979
7	A new case of osteogenesis imperfecta type VIII and retinal detachment. ⁶¹	de Souza LT...Maria Felix T	33098264	2021
8	Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ⁶¹	Zhen L...Li DZ	30322678	2019
9	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. ⁶¹	Popkov D	30269195	2018
10	Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. ⁶¹	Chin JWE...Stuart GM	30117226	2018
11	Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ⁶¹	Huang Y...Wu L	27864101	2017
12	Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. ⁶¹	Moul A...Rodriguez MM	23301918	2013

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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	PubMed IDs
1	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	1040.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)	17277775 22281939 19088120
2	CRTAP	Cartilage Associated Protein	Protein Coding	6.69	DISEASES inferred ¹⁵
3	P4HA3	Prolyl 4-Hydroxylase Subunit Alpha 3	Protein Coding	6.6	DISEASES inferred ¹⁵
4	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	6.45	DISEASES inferred ¹⁵
5	PI15	Peptidase Inhibitor 15	Protein Coding	6.3	DISEASES inferred ¹⁵
6	P4HA2	Prolyl 4-Hydroxylase Subunit Alpha 2	Protein Coding	6.06	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 175)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	P3H1	NM_022356.3(P3H1):c.1080+1G>T	SNV	Pathogenic	1253	rs72659351	1:43223453-43223453	1:42757782-42757782
2	P3H1	NM_022356.3(P3H1):c.1473+1G>T	SNV	Pathogenic	1254	rs72659354	1:43218207-43218207	1:42752536-42752536
3	P3H1	NM_022356.3(P3H1):c.747del (p.Tyr250fs)	Deletion	Pathogenic	1255	rs72659348	1:43224933-43224933	1:42759262-42759262
4	P3H1	NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter)	SNV	Pathogenic	1256	rs72659355	1:43215921-43215921	1:42750250-42750250
5	P3H1	NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs)	Indel	Pathogenic	1257	rs137853952	1:43218315-43218316	1:42752644-42752645
6	P3H1	NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter)	SNV	Pathogenic	1258	rs118203996	1:43221287-43221287	1:42755616-42755616
7	P3H1	NM_001146289.1(P3H1):c.570_571del (p.Gly191fs)	Deletion	Pathogenic	522436	rs1553143741	1:43228041-43228042	1:42762370-42762371
8	P3H1	NM_022356.3(P3H1):c.646_650del (p.Tyr216fs)	Deletion	Pathogenic	522681	rs1553143142	1:43225030-43225034	1:42759359-42759363
9	P3H1	NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter)	SNV	Pathogenic	655208	rs1570472113	1:43223474-43223474	1:42757803-42757803
10	P3H1	NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter)	SNV	Pathogenic	566925	rs1557569037	1:43220837-43220837	1:42755166-42755166
11	P3H1	NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter)	SNV	Pathogenic	664730	rs1229143002	1:43218222-43218222	1:42752551-42752551
12	P3H1	NM_022356.4(P3H1):c.1856del (p.Asn619fs)	Deletion	Pathogenic	653499	rs1570454914	1:43213452-43213452	1:42747781-42747781
13	P3H1	NM_022356.3(P3H1):c.1346-1G>C	SNV	Pathogenic	284532	rs886042897	1:43218336-43218336	1:42752665-42752665
14	P3H1	NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)	SNV	Pathogenic	860818		1:43220659-43220659	1:42754988-42754988
15	P3H1	NM_022356.4(P3H1):c.664C>T (p.Gln222Ter)	SNV	Pathogenic	994259		1:43225016-43225016	1:42759345-42759345
16	P3H1	NM_022356.4(P3H1):c.1839-2A>C	SNV	Likely pathogenic	982090		1:43213471-43213471	1:42747800-42747800
17	P3H1	NM_022356.3(P3H1):c.940+1G>T	SNV	Likely pathogenic	566929	rs762525651	1:43224522-43224522	1:42758851-42758851
18	P3H1	NM_022356.3(P3H1):c.1171-2A>T	SNV	Likely pathogenic	571428	rs1013320485	1:43220890-43220890	1:42755219-42755219
19	P3H1	NM_022356.3(P3H1):c.232C>T (p.Gln78Ter)	SNV	Likely pathogenic	635408	rs1330779100	1:43232411-43232411	1:42766740-42766740
20	P3H1	NM_022356.3(P3H1):c.2055+18G>A	SNV	Likely pathogenic	1259	rs137853890	1:43212925-43212925	1:42747254-42747254
21	P3H1	NM_022356.3(P3H1):c.1428C>T (p.Gly476=)	SNV	Conflicting interpretations of pathogenicity	468968	rs141786883	1:43218253-43218253	1:42752582-42752582
22	P3H1	NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys)	SNV	Conflicting interpretations of pathogenicity	468979	rs3738497	1:43213068-43213068	1:42747397-42747397
23	P3H1	NM_022356.3(P3H1):c.1721-4C>T	SNV	Conflicting interpretations of pathogenicity	282080	rs200901466	1:43213992-43213992	1:42748321-42748321
24	P3H1	NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg)	SNV	Conflicting interpretations of pathogenicity	426382	rs139259804	1:43218010-43218010	1:42752339-42752339
25	P3H1	NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly)	SNV	Conflicting interpretations of pathogenicity	283522	rs113593896	1:43220563-43220563	1:42754892-42754892
26	P3H1	NM_022356.4(P3H1):c.2055+30_2055+31insCGAGCGGGTGAGAGCAGCT	Insertion	Uncertain significance	994189		1:43212912-43212913	1:42747241-42747242
27	P3H1	NM_022356.3(P3H1):c.1616A>G (p.Tyr539Cys)	SNV	Uncertain significance	536812	rs772654104	1:43215961-43215961	1:42750290-42750290
28	P3H1	NM_022356.3(P3H1):c.1963A>G (p.Thr655Ala)	SNV	Uncertain significance	650310	rs138939786	1:43213035-43213035	1:42747364-42747364
29	P3H1	NM_022356.4(P3H1):c.1829G>A (p.Arg610His)	SNV	Uncertain significance	994299		1:43213880-43213880	1:42748209-42748209
30	P3H1	NM_022356.3(P3H1):c.1806A>C (p.Lys602Asn)	SNV	Uncertain significance	429864	rs144336336	1:43213903-43213903	1:42748232-42748232
31	P3H1	NM_022356.4(P3H1):c.310del (p.Leu104fs)	Deletion	Uncertain significance	982713		1:43232333-43232333	1:42766662-42766662
32	P3H1	NM_022356.4(P3H1):c.1944C>T (p.Ala648=)	SNV	Uncertain significance	875524		1:43213054-43213054	1:42747383-42747383
33	P3H1	NM_022356.4(P3H1):c.1247G>A (p.Arg416His)	SNV	Uncertain significance	875585		1:43220638-43220638	1:42754967-42754967
34	P3H1	NM_022356.4(P3H1):c.7G>A (p.Val3Ile)	SNV	Uncertain significance	875633		1:43232636-43232636	1:42766965-42766965
35	P3H1	NM_022356.4(P3H1):c.*262C>T	SNV	Uncertain significance	873597		1:43212106-43212106	1:42746435-42746435
36	P3H1	NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys)	SNV	Uncertain significance	873653		1:43215938-43215938	1:42750267-42750267
37	P3H1	NM_022356.4(P3H1):c.826C>G (p.Leu276Val)	SNV	Uncertain significance	873725		1:43224637-43224637	1:42758966-42758966
38	P3H1	NM_022356.4(P3H1):c.807A>G (p.Thr269=)	SNV	Uncertain significance	873727		1:43224873-43224873	1:42759202-42759202
39	P3H1	NM_022356.4(P3H1):c.2108T>C (p.Met703Thr)	SNV	Uncertain significance	874596		1:43212471-43212471	1:42746800-42746800
40	P3H1	NM_022356.3(P3H1):c.326T>G (p.Phe109Cys)	SNV	Uncertain significance	468982	rs761389160	1:43232317-43232317	1:42766646-42766646
41	P3H1	NM_022356.4(P3H1):c.618+10del	Deletion	Uncertain significance	468986	rs760593141	1:43227984-43227984	1:42762313-42762313
42	P3H1	NM_022356.3(P3H1):c.566T>C (p.Met189Thr)	SNV	Uncertain significance	468984	rs776145937	1:43228046-43228046	1:42762375-42762375
43	P3H1	NM_022356.3(P3H1):c.1720+4G>A	SNV	Uncertain significance	468972	rs371232413	1:43215853-43215853	1:42750182-42750182
44	P3H1	NM_022356.3(P3H1):c.1660C>T (p.Arg554Cys)	SNV	Uncertain significance	468971	rs138860050	1:43215917-43215917	1:42750246-42750246
45	P3H1	NM_022356.3(P3H1):c.689C>T (p.Ala230Val)	SNV	Uncertain significance	289859	rs369342678	1:43224991-43224991	1:42759320-42759320
46	P3H1	NM_022356.3(P3H1):c.1412G>T (p.Arg471Leu)	SNV	Uncertain significance	468967	rs377645905	1:43218269-43218269	1:42752598-42752598
47	P3H1	NM_022356.3(P3H1):c.1246C>T (p.Arg416Cys)	SNV	Uncertain significance	468964	rs199597388	1:43220639-43220639	1:42754968-42754968
48	P3H1	NM_022356.3(P3H1):c.1339C>T (p.Arg447Trp)	SNV	Uncertain significance	468966	rs150951532	1:43220546-43220546	1:42754875-42754875
49	P3H1	NM_022356.3(P3H1):c.1840G>T (p.Ala614Ser)	SNV	Uncertain significance	468978	rs868224632	1:43213468-43213468	1:42747797-42747797
50	P3H1	NM_022356.3(P3H1):c.426G>T (p.Lys142Asn)	SNV	Uncertain significance	468983	rs200334947	1:43232217-43232217	1:42766546-42766546

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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:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.09	P4HA3 P4HA2 P3H2 P3H1 CRTAP
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.67	P4HA3 P4HA2 P3H2 P3H1 CRTAP
3	Arginine and proline metabolism ³⁶ Show member pathways 4-hydroxyproline degradation ¹ Agmatine biosynthesis ⁶⁵ putrescine biosynthesis II ¹	10.92	P4HA3 P4HA2

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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	9.35	P4HA3 P4HA2 P3H2 P3H1 CRTAP
2	endoplasmic reticulum lumen	GO:0005788	9.02	P4HA3 P4HA2 P3H2 P3H1 CRTAP

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

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.62	P4HA3 P4HA2 P3H2 P3H1
2	chaperone-mediated protein folding	GO:0061077	9.37	P3H1 CRTAP
3	collagen metabolic process	GO:0032963	9.26	P3H2 P3H1
4	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	GO:0018401	9.16	P4HA3 P4HA2
5	negative regulation of post-translational protein modification	GO:1901874	8.96	P3H1 CRTAP
6	peptidyl-proline hydroxylation	GO:0019511	8.92	P4HA3 P4HA2 P3H2 P3H1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.71	P4HA3 P4HA2 P3H2 P3H1
2	iron ion binding	GO:0005506	9.56	P4HA3 P4HA2 P3H2 P3H1
3	collagen binding	GO:0005518	9.46	P3H1 CRTAP
4	dioxygenase activity	GO:0051213	9.46	P4HA3 P4HA2 P3H2 P3H1
5	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	GO:0016702	9.43	P4HA3 P4HA2
6	procollagen-proline 4-dioxygenase activity	GO:0004656	9.37	P4HA3 P4HA2
7	procollagen-proline 3-dioxygenase activity	GO:0019797	9.32	P3H2 P3H1
8	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	9.26	P4HA3 P4HA2 P3H2 P3H1
9	L-ascorbic acid binding	GO:0031418	8.92	P4HA3 P4HA2 P3H2 P3H1

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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 Iii 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®:

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

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