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, 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 ⁵⁶ ¹³

Osteogenesis Imperfecta Type 8 ¹² ⁵² ²⁹ ⁶ ¹⁵

Osteogenesis Imperfecta Type Viii ¹² ⁵² ⁷³ ³⁹

Oi8 ⁵⁶ ¹² ⁵² ⁷³

Oi Type Viii ⁵² ⁷³

Osteogenesis Imperfecta 8 ⁷³

Oi, Type Viii ⁵⁶

Oi-Viii ⁷³

Characteristics:

OMIM:

⁵⁶

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

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 ⁵⁶ 610915

OMIM Phenotypic Series ⁵⁶ PS166200

MeSH ⁴³ D010013

ICD10 ³² Q78.0

MedGen ⁴¹ C1970458

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Summaries for Osteogenesis Imperfecta, Type Viii

OMIM : ⁵⁶ 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 Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are global developmental delay and inguinal hernia

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

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	32.3	P3H1 CRTAP
2	brittle bone disorder	29.8	P3H2 P3H1 CRTAP
3	fibrogenesis imperfecta ossium	10.1	P3H1 CRTAP
4	boomerang dysplasia	10.0	P3H1 CRTAP
5	bruck syndrome	10.0	P3H1 CRTAP
6	spondylocarpotarsal synostosis syndrome	9.9	P3H1 CRTAP
7	osteogenesis imperfecta, type x	9.9	P4HA3 OSBP2
8	dentinogenesis imperfecta	9.9	P3H1 CRTAP
9	osteogenesis imperfecta, type iv	9.7	P3H1 OSBP2 CRTAP
10	bone development disease	9.7	P3H1 CRTAP
11	osteogenesis imperfecta, type iii	9.7	P3H1 OSBP2 CRTAP
12	cole-carpenter syndrome	9.3	P4HA2 P4HA1 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	global developmental delay ³¹	HP:0001263
2	inguinal hernia ³¹	HP:0000023
3	scoliosis ³¹	HP:0002650
4	kyphosis ³¹	HP:0002808
5	osteopenia ³¹	HP:0000938
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:

⁵⁶

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

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 26)

#	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. ⁵⁶ 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. ⁵⁶ ⁶	Willaert A...De Paepe A	19088120	2009
3	Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. ⁶ ⁵⁶	Cabral WA...Marini JC	17277775	2007
4	Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. ⁶	Swinnen FK...Dhooge IJ	19358256	2009
5	Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ⁶	Bodian DL...Klein TE	18996919	2009
6	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
7	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
8	Osteogenesis imperfecta: clinical, biochemical and molecular findings. ⁶	Venturi G...Tato L	16879195	2006
9	COL1A1/2 Osteogenesis Imperfecta ⁶	Steiner RD...Basel D	20301472	2005
10	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
11	Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. ⁶	Ries-Levavi L...Friedman E	15024745	2004
12	Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. ⁶	Ward LM...Glorieux FH	11317364	2001
13	Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ⁶	Ries L...Friedman E	11113887	2000
14	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
15	Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. ⁶	Willing MC...Roberts EJ	7942841	1994
16	Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ⁵⁶	Wallis GA...Beighton P	8100856	1993
17	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
18	Osteogenesis imperfecta type III: an ancient mutation in Africa? ⁵⁶	Viljoen D...Beighton P	3425600	1987
19	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
20	Genetic heterogeneity in osteogenesis imperfecta. ⁵⁶	Sillence DO...Danks DM	458828	1979
21	Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. ⁶	Weisinger B...Berger A	1137656	1975
22	Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ⁶¹	Zhen L...Li DZ	30322678	2019
23	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
24	Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. ⁶¹	Chin JWE...Stuart GM	30117226	2018
25	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
26	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	PubmedIds
1	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	1015.21	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)	17277775 20301472 19088120 (more) 22281939
2	CRTAP	Cartilage Associated Protein	Protein Coding	6.61	DISEASES inferred ¹⁵
3	P4HA3	Prolyl 4-Hydroxylase Subunit Alpha 3	Protein Coding	6.53	DISEASES inferred ¹⁵
4	PI15	Peptidase Inhibitor 15	Protein Coding	6.14	DISEASES inferred ¹⁵
5	P4HA2	Prolyl 4-Hydroxylase Subunit Alpha 2	Protein Coding	5.96	DISEASES inferred ¹⁵
6	P4HA1	Prolyl 4-Hydroxylase Subunit Alpha 1	Protein Coding	5.8	DISEASES inferred ¹⁵
7	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	5.62	DISEASES inferred ¹⁵
8	OSBP2	Oxysterol Binding Protein 2	Protein Coding	5.49	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 148) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	P3H1	NM_022356.3(P3H1):c.570_571del (p.Gly191fs)	deletion	Pathogenic	522436	rs1553143741	1:43228041-43228042	1:42762370-42762371
2	P3H1	NM_022356.3(P3H1):c.646_650del (p.Tyr216fs)	deletion	Pathogenic	522681	rs1553143142	1:43225030-43225034	1:42759359-42759363
3	P3H1	NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter)	SNV	Pathogenic	566925	rs1557569037	1:43220837-43220837	1:42755166-42755166
4	P3H1	NM_022356.4(P3H1):c.1856del (p.Asn619fs)	deletion	Pathogenic	653499		1:43213452-43213452	1:42747781-42747781
5	P3H1	NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter)	SNV	Pathogenic	655208		1:43223474-43223474	1:42757803-42757803
6	P3H1	NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter)	SNV	Pathogenic	664730		1:43218222-43218222	1:42752551-42752551
7	P3H1	NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter)	SNV	Pathogenic	860818		1:43220659-43220659	1:42754988-42754988
8	P3H1	NM_022356.3(P3H1):c.1080+1G>T	SNV	Pathogenic	1253	rs72659351	1:43223453-43223453	1:42757782-42757782
9	P3H1	NM_022356.3(P3H1):c.1473+1G>T	SNV	Pathogenic	1254	rs72659354	1:43218207-43218207	1:42752536-42752536
10	P3H1	NM_022356.3(P3H1):c.747del (p.Tyr250fs)	deletion	Pathogenic	1255	rs72659348	1:43224933-43224933	1:42759262-42759262
11	P3H1	NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter)	SNV	Pathogenic	1256	rs72659355	1:43215921-43215921	1:42750250-42750250
12	P3H1	NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs)	indel	Pathogenic	1257	rs137853952	1:43218315-43218316	1:42752644-42752645
13	P3H1	NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter)	SNV	Pathogenic	1258	rs118203996	1:43221287-43221287	1:42755616-42755616
14	P3H1	NM_022356.3(P3H1):c.1346-1G>C	SNV	Pathogenic	284532	rs886042897	1:43218336-43218336	1:42752665-42752665
15	P3H1	NM_022356.3(P3H1):c.2055+18G>A	SNV	Likely pathogenic	1259	rs137853890	1:43212925-43212925	1:42747254-42747254
16	P3H1	NM_022356.3(P3H1):c.232C>T (p.Gln78Ter)	SNV	Likely pathogenic	635408		1:43232411-43232411	1:42766740-42766740
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.1620C>T (p.Asn540=)	SNV	Conflicting interpretations of pathogenicity	536816	rs140334418	1:43215957-43215957	1:42750286-42750286
20	P3H1	NM_022356.3(P3H1):c.81G>C (p.Glu27Asp)	SNV	Conflicting interpretations of pathogenicity	536820	rs201750444	1:43232562-43232562	1:42766891-42766891
21	P3H1	NM_022356.3(P3H1):c.1501C>T (p.Arg501Trp)	SNV	Conflicting interpretations of pathogenicity	536818	rs115108794	1:43218013-43218013	1:42752342-42752342
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.611C>A (p.Pro204His)	SNV	Conflicting interpretations of pathogenicity	468985	rs77208721	1:43228001-43228001	1:42762330-42762330
24	P3H1	NM_022356.3(P3H1):c.327C>T (p.Phe109=)	SNV	Conflicting interpretations of pathogenicity	497260	rs370773974	1:43232316-43232316	1:42766645-42766645
25	P3H1	NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg)	SNV	Conflicting interpretations of pathogenicity	426382	rs139259804	1:43218010-43218010	1:42752339-42752339
26	P3H1	NM_022356.3(P3H1):c.1626G>A (p.Thr542=)	SNV	Conflicting interpretations of pathogenicity	468970	rs577059613	1:43215951-43215951	1:42750280-42750280
27	P3H1	NM_022356.3(P3H1):c.1428C>T (p.Gly476=)	SNV	Conflicting interpretations of pathogenicity	468968	rs141786883	1:43218253-43218253	1:42752582-42752582
28	P3H1	NM_022356.3(P3H1):c.978C>T (p.Thr326=)	SNV	Conflicting interpretations of pathogenicity	468990	rs74070022	1:43223556-43223556	1:42757885-42757885
29	P3H1	NM_022356.3(P3H1):c.1720+4G>A	SNV	Conflicting interpretations of pathogenicity	468972	rs371232413	1:43215853-43215853	1:42750182-42750182
30	P3H1	NM_022356.3(P3H1):c.693G>A (p.Ala231=)	SNV	Conflicting interpretations of pathogenicity	468988	rs149113630	1:43224987-43224987	1:42759316-42759316
31	P3H1	NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala)	SNV	Conflicting interpretations of pathogenicity	194557	rs533729683	1:43212427-43212427	1:42746756-42746756
32	P3H1	NM_022356.3(P3H1):c.1721-4C>T	SNV	Conflicting interpretations of pathogenicity	282080	rs200901466	1:43213992-43213992	1:42748321-42748321
33	P3H1	NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly)	SNV	Conflicting interpretations of pathogenicity	283522	rs113593896	1:43220563-43220563	1:42754892-42754892
34	P3H1	NM_022356.3(P3H1):c.1473+5G>T	SNV	Conflicting interpretations of pathogenicity	387904	rs114044880	1:43218203-43218203	1:42752532-42752532
35	P3H1	NM_022356.3(P3H1):c.1233G>A (p.Arg411=)	SNV	Conflicting interpretations of pathogenicity	379643	rs61746653	1:43220652-43220652	1:42754981-42754981
36	P3H1	NM_022356.3(P3H1):c.1026C>T (p.Ala342=)	SNV	Conflicting interpretations of pathogenicity	379768	rs61100157	1:43223508-43223508	1:42757837-42757837
37	P3H1	NM_022356.3(P3H1):c.139G>T (p.Ala47Ser)	SNV	Conflicting interpretations of pathogenicity	379443	rs55716016	1:43232504-43232504	1:42766833-42766833
38	P3H1	NM_022356.3(P3H1):c.1812C>T (p.Pro604=)	SNV	Conflicting interpretations of pathogenicity	379771	rs34809608	1:43213897-43213897	1:42748226-42748226
39	P3H1	NM_022356.3(P3H1):c.1569+3A>G	SNV	Conflicting interpretations of pathogenicity	379770	rs76871760	1:43217942-43217942	1:42752271-42752271
40	P3H1	NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg)	SNV	Conflicting interpretations of pathogenicity	379444	rs6700677	1:43223489-43223489	1:42757818-42757818
41	P3H1	NM_022356.3(P3H1):c.1647G>A (p.Met549Ile)	SNV	Conflicting interpretations of pathogenicity	379421	rs11581921	1:43215930-43215930	1:42750259-42750259
42	P3H1	NM_022356.3(P3H1):c.1284C>T (p.Ile428=)	SNV	Conflicting interpretations of pathogenicity	379769	rs61746642	1:43220601-43220601	1:42754930-42754930
43	P3H1	NM_022356.4(P3H1):c.-57G>T	SNV	Conflicting interpretations of pathogenicity	875635		1:43232699-43232699	1:42767028-42767028
44	P3H1	NM_022356.4(P3H1):c.*77C>T	SNV	Conflicting interpretations of pathogenicity	873600		1:43212291-43212291	1:42746620-42746620
45	P3H1	NM_022356.4(P3H1):c.2108T>C (p.Met703Thr)	SNV	Uncertain significance	874596		1:43212471-43212471	1:42746800-42746800
46	P3H1	NM_022356.4(P3H1):c.1944C>T (p.Ala648=)	SNV	Uncertain significance	875524		1:43213054-43213054	1:42747383-42747383
47	P3H1	NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys)	SNV	Uncertain significance	873653		1:43215938-43215938	1:42750267-42750267
48	P3H1	NM_022356.4(P3H1):c.1247G>A (p.Arg416His)	SNV	Uncertain significance	875585		1:43220638-43220638	1:42754967-42754967
49	P3H1	NM_022356.4(P3H1):c.826C>G (p.Leu276Val)	SNV	Uncertain significance	873725		1:43224637-43224637	1:42758966-42758966
50	P3H1	NM_022356.4(P3H1):c.807A>G (p.Thr269=)	SNV	Uncertain significance	873727		1:43224873-43224873	1:42759202-42759202

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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	12.16	P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.75	P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
3	Arginine and proline metabolism ³⁶ Show member pathways 4-hydroxyproline degradation ¹ Agmatine biosynthesis ⁶⁵ putrescine biosynthesis II ¹	11.09	P4HA3 P4HA2 P4HA1

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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	9.43	P4HA3 P4HA2 P4HA1 P3H2 P3H1 CRTAP
2	endoplasmic reticulum lumen	GO:0005788	9.1	P4HA3 P4HA2 P4HA1 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	9.65	P4HA3 P4HA2 P4HA1 P3H2 P3H1
2	collagen fibril organization	GO:0030199	9.4	P4HA1 CRTAP
3	chaperone-mediated protein folding	GO:0061077	9.37	P3H1 CRTAP
4	collagen metabolic process	GO:0032963	9.32	P3H2 P3H1
5	negative regulation of post-translational protein modification	GO:1901874	9.16	P3H1 CRTAP
6	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	GO:0018401	9.13	P4HA3 P4HA2 P4HA1
7	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	9.8	P4HA3 P4HA2 P4HA1 P3H2 P3H1
2	iron ion binding	GO:0005506	9.65	P4HA3 P4HA2 P4HA1 P3H2 P3H1
3	dioxygenase activity	GO:0051213	9.55	P4HA3 P4HA2 P4HA1 P3H2 P3H1
4	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	GO:0016702	9.54	P4HA3 P4HA2 P4HA1
5	procollagen-proline 4-dioxygenase activity	GO:0004656	9.5	P4HA3 P4HA2 P4HA1
6	collagen binding	GO:0005518	9.46	P3H1 CRTAP
7	procollagen-proline 3-dioxygenase activity	GO:0019797	9.43	P3H2 P3H1
8	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	9.35	P4HA3 P4HA2 P4HA1 P3H2 P3H1
9	L-ascorbic acid binding	GO:0031418	9.02	P4HA3 P4HA2 P4HA1 P3H2 P3H1

Sources

Sources for Osteogenesis Imperfecta, Type Viii

¹ BioSystems

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⁵⁶ OMIM

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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

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Anatomical Context for Osteogenesis Imperfecta, Type Viii

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Publications for Osteogenesis Imperfecta, Type Viii

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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