OI8
MCID: OST118
MIFTS: 43

Osteogenesis Imperfecta, Type Viii (OI8)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

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 72 39
Oi8 57 12 20 72
Oi Type Viii 20 72
Osteogenesis Imperfecta 8 72
Oi, Type Viii 57
Oi-Viii 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type viii:
Inheritance autosomal recessive inheritance


Classifications:



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 20-May-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 eye and 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 : 72 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.

Related Diseases for Osteogenesis Imperfecta, Type Viii

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii 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
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 16)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.7 P3H1 CRTAP
2 brittle bone disorder 29.9 P4HA2 P3H2 P3H1 CRTAP
3 osteochondrodysplasia 29.7 P3H2 P3H1 CRTAP
4 retinal detachment 10.1
5 autosomal recessive disease 10.1
6 osteogenesis imperfecta, type vii 10.1 P3H1 CRTAP
7 fibrogenesis imperfecta ossium 10.0 P3H1 CRTAP
8 boomerang dysplasia 10.0 P3H1 CRTAP
9 bruck syndrome 10.0 P3H1 CRTAP
10 spondylocarpotarsal synostosis syndrome 10.0 P3H1 CRTAP
11 mucopolysaccharidosis iv 10.0 P3H1 CRTAP
12 cole-carpenter syndrome 10.0 P4HA2 CRTAP
13 osteogenesis imperfecta, type iv 9.9 P3H1 CRTAP
14 dentinogenesis imperfecta 9.9 P3H1 CRTAP
15 osteogenesis imperfecta, type iii 9.8 P3H1 CRTAP
16 bone development disease 9.7 P3H1 CRTAP

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



Diseases related to Osteogenesis Imperfecta, Type Viii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Viii

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

31 (show all 26)
# Description HPO Frequency 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 20-May-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 20-May-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

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Viii

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

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

Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

40
Eye, Bone

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

(show all 18)
# 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. 6 57
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
19088120 2009
3
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. 6 57
17277775 2007
4
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. 6
29499418 2018
5
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. 6
29150909 2018
6
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 6
27509835 2016
7
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations. 6
24498616 2013
8
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. 6
18566967 2008
9
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 57
8100856 1993
10
Osteogenesis imperfecta type III: an ancient mutation in Africa? 57
3425600 1987
11
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
12
A new case of osteogenesis imperfecta type VIII and retinal detachment. 61
33098264 2021
13
A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies. 61
33737016 2021
14
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. 61
30322678 2019
15
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
30269195 2018
16
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. 61
30117226 2018
17
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. 61
27864101 2017
18
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. 61
23301918 2013

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

6 (show top 50) (show all 206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 P3H1 NM_022356.3(P3H1):c.1080+1G>T SNV Pathogenic 1253 rs72659351 GRCh37: 1:43223453-43223453
GRCh38: 1:42757782-42757782
2 P3H1 NM_022356.3(P3H1):c.1473+1G>T SNV Pathogenic 1254 rs72659354 GRCh37: 1:43218207-43218207
GRCh38: 1:42752536-42752536
3 P3H1 NM_022356.3(P3H1):c.747del (p.Tyr250fs) Deletion Pathogenic 1255 rs72659348 GRCh37: 1:43224933-43224933
GRCh38: 1:42759262-42759262
4 P3H1 NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter) SNV Pathogenic 1256 rs72659355 GRCh37: 1:43215921-43215921
GRCh38: 1:42750250-42750250
5 P3H1 NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs) Indel Pathogenic 1257 rs137853952 GRCh37: 1:43218315-43218316
GRCh38: 1:42752644-42752645
6 P3H1 NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter) SNV Pathogenic 1258 rs118203996 GRCh37: 1:43221287-43221287
GRCh38: 1:42755616-42755616
7 P3H1 NM_001146289.1(P3H1):c.570_571del (p.Gly191fs) Deletion Pathogenic 522436 rs1553143741 GRCh37: 1:43228041-43228042
GRCh38: 1:42762370-42762371
8 P3H1 NM_022356.3(P3H1):c.646_650del (p.Tyr216fs) Deletion Pathogenic 522681 rs1553143142 GRCh37: 1:43225030-43225034
GRCh38: 1:42759359-42759363
9 P3H1 NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter) SNV Pathogenic 566925 rs1557569037 GRCh37: 1:43220837-43220837
GRCh38: 1:42755166-42755166
10 P3H1 NM_022356.4(P3H1):c.1856del (p.Asn619fs) Deletion Pathogenic 653499 rs1570454914 GRCh37: 1:43213452-43213452
GRCh38: 1:42747781-42747781
11 P3H1 NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter) SNV Pathogenic 655208 rs1570472113 GRCh37: 1:43223474-43223474
GRCh38: 1:42757803-42757803
12 P3H1 NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter) SNV Pathogenic 664730 rs1229143002 GRCh37: 1:43218222-43218222
GRCh38: 1:42752551-42752551
13 P3H1 NM_022356.3(P3H1):c.1346-1G>C SNV Pathogenic 284532 rs886042897 GRCh37: 1:43218336-43218336
GRCh38: 1:42752665-42752665
14 P3H1 NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) SNV Pathogenic 860818 GRCh37: 1:43220659-43220659
GRCh38: 1:42754988-42754988
15 P3H1 NM_022356.4(P3H1):c.628C>T (p.Arg210Ter) SNV Pathogenic 1032136 GRCh37: 1:43225052-43225052
GRCh38: 1:42759381-42759381
16 P3H1 NM_022356.4(P3H1):c.664C>T (p.Gln222Ter) SNV Pathogenic 994259 GRCh37: 1:43225016-43225016
GRCh38: 1:42759345-42759345
17 P3H1 NM_022356.4(P3H1):c.1839-2A>C SNV Likely pathogenic 982090 GRCh37: 1:43213471-43213471
GRCh38: 1:42747800-42747800
18 P3H1 NM_022356.3(P3H1):c.940+1G>T SNV Likely pathogenic 566929 rs762525651 GRCh37: 1:43224522-43224522
GRCh38: 1:42758851-42758851
19 P3H1 NM_022356.3(P3H1):c.1171-2A>T SNV Likely pathogenic 571428 rs1013320485 GRCh37: 1:43220890-43220890
GRCh38: 1:42755219-42755219
20 P3H1 NM_022356.3(P3H1):c.232C>T (p.Gln78Ter) SNV Likely pathogenic 635408 rs1330779100 GRCh37: 1:43232411-43232411
GRCh38: 1:42766740-42766740
21 P3H1 NM_022356.3(P3H1):c.2055+18G>A SNV Likely pathogenic 1259 rs137853890 GRCh37: 1:43212925-43212925
GRCh38: 1:42747254-42747254
22 P3H1 NM_022356.3(P3H1):c.1428C>T (p.Gly476=) SNV Conflicting interpretations of pathogenicity 468968 rs141786883 GRCh37: 1:43218253-43218253
GRCh38: 1:42752582-42752582
23 P3H1 NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) SNV Conflicting interpretations of pathogenicity 426382 rs139259804 GRCh37: 1:43218010-43218010
GRCh38: 1:42752339-42752339
24 P3H1 NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys) SNV Conflicting interpretations of pathogenicity 468979 rs3738497 GRCh37: 1:43213068-43213068
GRCh38: 1:42747397-42747397
25 P3H1 NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) SNV Conflicting interpretations of pathogenicity 283522 rs113593896 GRCh37: 1:43220563-43220563
GRCh38: 1:42754892-42754892
26 P3H1 NM_022356.3(P3H1):c.1721-4C>T SNV Conflicting interpretations of pathogenicity 282080 rs200901466 GRCh37: 1:43213992-43213992
GRCh38: 1:42748321-42748321
27 P3H1 NM_022356.3(P3H1):c.961G>A (p.Val321Ile) SNV Uncertain significance 468989 rs866278783 GRCh37: 1:43223573-43223573
GRCh38: 1:42757902-42757902
28 P3H1 NM_022356.4(P3H1):c.1170+6C>G SNV Uncertain significance 835436 GRCh37: 1:43221213-43221213
GRCh38: 1:42755542-42755542
29 P3H1 NM_022356.4(P3H1):c.*262C>T SNV Uncertain significance 873597 GRCh37: 1:43212106-43212106
GRCh38: 1:42746435-42746435
30 P3H1 NM_022356.4(P3H1):c.310del (p.Leu104fs) Deletion Uncertain significance 982713 GRCh37: 1:43232333-43232333
GRCh38: 1:42766662-42766662
31 P3H1 NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) SNV Uncertain significance 873653 GRCh37: 1:43215938-43215938
GRCh38: 1:42750267-42750267
32 P3H1 NM_022356.4(P3H1):c.826C>G (p.Leu276Val) SNV Uncertain significance 873725 GRCh37: 1:43224637-43224637
GRCh38: 1:42758966-42758966
33 P3H1 NM_022356.4(P3H1):c.807A>G (p.Thr269=) SNV Uncertain significance 873727 GRCh37: 1:43224873-43224873
GRCh38: 1:42759202-42759202
34 P3H1 NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) SNV Uncertain significance 874596 GRCh37: 1:43212471-43212471
GRCh38: 1:42746800-42746800
35 P3H1 NM_022356.4(P3H1):c.1996A>G (p.Arg666Gly) SNV Uncertain significance 998564 GRCh37: 1:43213002-43213002
GRCh38: 1:42747331-42747331
36 P3H1 NM_022356.4(P3H1):c.1988C>G (p.Ala663Gly) SNV Uncertain significance 1001898 GRCh37: 1:43213010-43213010
GRCh38: 1:42747339-42747339
37 P3H1 NM_022356.4(P3H1):c.1307C>T (p.Thr436Ile) SNV Uncertain significance 1003972 GRCh37: 1:43220578-43220578
GRCh38: 1:42754907-42754907
38 P3H1 NM_022356.4(P3H1):c.1541A>G (p.Tyr514Cys) SNV Uncertain significance 1004506 GRCh37: 1:43217973-43217973
GRCh38: 1:42752302-42752302
39 P3H1 NM_022356.4(P3H1):c.815A>T (p.Tyr272Phe) SNV Uncertain significance 1006078 GRCh37: 1:43224648-43224648
GRCh38: 1:42758977-42758977
40 P3H1 NM_022356.4(P3H1):c.1224-4A>G SNV Uncertain significance 1006526 GRCh37: 1:43220665-43220665
GRCh38: 1:42754994-42754994
41 P3H1 NM_022356.4(P3H1):c.646T>G (p.Tyr216Asp) SNV Uncertain significance 1006608 GRCh37: 1:43225034-43225034
GRCh38: 1:42759363-42759363
42 P3H1 NM_022356.4(P3H1):c.1636C>T (p.Arg546Trp) SNV Uncertain significance 1011217 GRCh37: 1:43215941-43215941
GRCh38: 1:42750270-42750270
43 P3H1 NM_022356.4(P3H1):c.808+5G>A SNV Uncertain significance 873726 GRCh37: 1:43224867-43224867
GRCh38: 1:42759196-42759196
44 P3H1 NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg) SNV Uncertain significance 1017074 GRCh37: 1:43212433-43212433
GRCh38: 1:42746762-42746762
45 P3H1 NM_022356.4(P3H1):c.1072C>A (p.Pro358Thr) SNV Uncertain significance 1019752 GRCh37: 1:43223462-43223462
GRCh38: 1:42757791-42757791
46 P3H1 NM_022356.4(P3H1):c.751_765dup (p.Asp251_Tyr255dup) Duplication Uncertain significance 1020188 GRCh37: 1:43224914-43224915
GRCh38: 1:42759243-42759244
47 P3H1 NM_022356.4(P3H1):c.1411C>G (p.Arg471Gly) SNV Uncertain significance 1020845 GRCh37: 1:43218270-43218270
GRCh38: 1:42752599-42752599
48 P3H1 NM_022356.4(P3H1):c.716A>G (p.Tyr239Cys) SNV Uncertain significance 1025259 GRCh37: 1:43224964-43224964
GRCh38: 1:42759293-42759293
49 P3H1 NM_022356.4(P3H1):c.2005C>T (p.Arg669Cys) SNV Uncertain significance 1026427 GRCh37: 1:43212993-43212993
GRCh38: 1:42747322-42747322
50 P3H1 NM_022356.4(P3H1):c.113T>C (p.Leu38Pro) SNV Uncertain significance 1030803 GRCh37: 1:43232530-43232530
GRCh38: 1:42766859-42766859

Expression for Osteogenesis Imperfecta, Type Viii

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

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
Show member pathways
12.09 P4HA3 P4HA2 P3H2 P3H1 CRTAP
2
Show member pathways
11.67 P4HA3 P4HA2 P3H2 P3H1 CRTAP
3
Show member pathways
10.92 P4HA3 P4HA2

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 protein stabilization GO:0050821 9.4 P3H1 CRTAP
3 chaperone-mediated protein folding GO:0061077 9.37 P3H1 CRTAP
4 collagen metabolic process GO:0032963 9.26 P3H2 P3H1
5 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.16 P4HA3 P4HA2
6 negative regulation of post-translational protein modification GO:1901874 8.96 P3H1 CRTAP
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 9.71 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 for Osteogenesis Imperfecta, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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