MCID: OST118
MIFTS: 42

Osteogenesis Imperfecta, Type Viii

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral 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 53 29 6 15
Osteogenesis Imperfecta Type Viii 12 53 75 40
Oi8 57 12 53 75
Oi Type Viii 53 75
Osteogenesis Imperfecta 8 75
Oi, Type Viii 57
Oi-Viii 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

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 inguinal hernia and wide anterior fontanel

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

UniProtKB/Swiss-Prot : 75 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 Ii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
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 29.3 COL1A1 COL1A2 CRTAP P3H1
2 brittle bone disorder 27.6 COL1A1 COL1A2 CRTAP P3H1
3 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
4 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
5 larsen-like syndrome 9.9 COL1A1 COL1A2
6 scleroderma, familial progressive 9.9 COL1A1 COL1A2
7 ehlers-danlos syndrome, classic type 9.9 COL1A1 COL1A2
8 caffey disease 9.9 COL1A1 COL1A2
9 ehlers-danlos syndrome, classic type, 1 9.8 COL1A1 COL1A2
10 osteogenesis imperfecta, type v 9.8 COL1A1 COL1A2
11 spondyloepiphyseal dysplasia congenita 9.8 COL1A1 COL1A2
12 collagen disease 9.8 COL1A1 COL1A2
13 osteogenesis imperfecta, type i 9.7 COL1A1 COL1A2
14 cervical incompetence 9.7 CRTAP P3H1
15 otosclerosis 9.7 COL1A1 COL1A2
16 ehlers-danlos syndrome 9.6 COL1A1 COL1A2
17 scoliosis 9.5 COL1A1 COL1A2
18 connective tissue disease 9.3 COL1A1 COL1A2 P3H1
19 type i 9.2 COL1A1 COL1A2
20 osteogenesis imperfecta, type vi 9.1 COL1A1 CRTAP P3H1
21 osteogenesis imperfecta, type vii 9.0 COL1A1 COL1A2 CRTAP
22 osteogenesis imperfecta, type iv 9.0 COL1A1 COL1A2 CRTAP
23 dentinogenesis imperfecta 8.4 COL1A1 COL1A2 CRTAP P3H1
24 bruck syndrome 8.4 COL1A1 COL1A2 CRTAP P3H1
25 bone development disease 8.4 COL1A1 COL1A2 CRTAP P3H1
26 osteogenesis imperfecta, type iii 8.4 COL1A1 COL1A2 CRTAP P3H1

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

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

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

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 HP:0000023
2 wide anterior fontanel 32 HP:0000260
3 delayed cranial suture closure 32 HP:0000270
4 round face 32 HP:0000311
5 proptosis 32 HP:0000520
6 thin ribs 32 HP:0000883
7 platyspondyly 32 HP:0000926
8 osteopenia 32 HP:0000938
9 global developmental delay 32 HP:0001263
10 joint laxity 32 HP:0001388
11 barrel-shaped chest 32 HP:0001552
12 wormian bones 32 HP:0002645
13 scoliosis 32 HP:0002650
14 recurrent fractures 32 HP:0002757
15 kyphosis 32 HP:0002808
16 vertebral compression fractures 32 HP:0002953
17 femoral bowing 32 HP:0002980
18 tibial bowing 32 HP:0002982
19 radial bowing 32 HP:0002986
20 slender long bone 32 HP:0003100
21 externally rotated/abducted legs 32 HP:0003783
22 type 1 collagen overmodification 32 HP:0003784
23 decreased skull ossification 32 HP:0004331
24 multiple prenatal fractures 32 HP:0005855
25 disproportionate short-limb short stature 32 HP:0008873
26 short metacarpal 32 HP:0010049

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Viii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 COL1A1 COL1A2 P3H1
2 limbs/digits/tail MP:0005371 9.13 COL1A1 COL1A2 P3H1
3 skeleton MP:0005390 8.92 COL1A1 COL1A2 CRTAP 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:

41
Bone

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

# Title Authors Year
1
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

6
(show top 50) (show all 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 P3H1 NM_022356.3(P3H1): c.1080+1G> T single nucleotide variant Pathogenic rs72659351 GRCh37 Chromosome 1, 43223453: 43223453
2 P3H1 NM_022356.3(P3H1): c.1080+1G> T single nucleotide variant Pathogenic rs72659351 GRCh38 Chromosome 1, 42757782: 42757782
3 P3H1 NM_022356.3(P3H1): c.1473+1G> T single nucleotide variant Pathogenic rs72659354 GRCh37 Chromosome 1, 43218207: 43218207
4 P3H1 NM_022356.3(P3H1): c.1473+1G> T single nucleotide variant Pathogenic rs72659354 GRCh38 Chromosome 1, 42752536: 42752536
5 P3H1 NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs) deletion Pathogenic rs72659348 GRCh37 Chromosome 1, 43224933: 43224933
6 P3H1 NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs) deletion Pathogenic rs72659348 GRCh38 Chromosome 1, 42759262: 42759262
7 P3H1 NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter) single nucleotide variant Pathogenic rs72659355 GRCh37 Chromosome 1, 43215921: 43215921
8 P3H1 NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter) single nucleotide variant Pathogenic rs72659355 GRCh38 Chromosome 1, 42750250: 42750250
9 P3H1 NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs) indel Pathogenic rs137853952 GRCh37 Chromosome 1, 43218315: 43218316
10 P3H1 NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs) indel Pathogenic rs137853952 GRCh38 Chromosome 1, 42752644: 42752645
11 P3H1 NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs118203996 GRCh37 Chromosome 1, 43221287: 43221287
12 P3H1 NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs118203996 GRCh38 Chromosome 1, 42755616: 42755616
13 P3H1 NM_022356.3(P3H1): c.2055+18G> A single nucleotide variant Likely pathogenic rs137853890 GRCh37 Chromosome 1, 43212925: 43212925
14 P3H1 NM_022356.3(P3H1): c.2055+18G> A single nucleotide variant Likely pathogenic rs137853890 GRCh38 Chromosome 1, 42747254: 42747254
15 P3H1 NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs533729683 GRCh37 Chromosome 1, 43212427: 43212427
16 P3H1 NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs533729683 GRCh38 Chromosome 1, 42746756: 42746756
17 P3H1 NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly) single nucleotide variant Benign rs113593896 GRCh37 Chromosome 1, 43220563: 43220563
18 P3H1 NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly) single nucleotide variant Benign rs113593896 GRCh38 Chromosome 1, 42754892: 42754892
19 P3H1 NM_001243246.1(P3H1): c.1346-1G> C single nucleotide variant Pathogenic rs886042897 GRCh37 Chromosome 1, 43218336: 43218336
20 P3H1 NM_001243246.1(P3H1): c.1346-1G> C single nucleotide variant Pathogenic rs886042897 GRCh38 Chromosome 1, 42752665: 42752665
21 P3H1 NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser) single nucleotide variant Likely benign rs149894086 GRCh37 Chromosome 1, 43217985: 43217985
22 P3H1 NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser) single nucleotide variant Likely benign rs149894086 GRCh38 Chromosome 1, 42752314: 42752314
23 P3H1 NM_022356.3(P3H1): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs369342678 GRCh37 Chromosome 1, 43224991: 43224991
24 P3H1 NM_022356.3(P3H1): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs369342678 GRCh38 Chromosome 1, 42759320: 42759320
25 P3H1 NM_022356.3(P3H1): c.1120G> T (p.Glu374Ter) single nucleotide variant Pathogenic rs140468248 GRCh37 Chromosome 1, 43221269: 43221269
26 P3H1 NM_022356.3(P3H1): c.1120G> T (p.Glu374Ter) single nucleotide variant Pathogenic rs140468248 GRCh38 Chromosome 1, 42755598: 42755598
27 P3H1 NM_022356.3(P3H1): c.1716C> T (p.Ile572=) single nucleotide variant Benign rs35500164 GRCh37 Chromosome 1, 43215861: 43215861
28 P3H1 NM_022356.3(P3H1): c.1716C> T (p.Ile572=) single nucleotide variant Benign rs35500164 GRCh38 Chromosome 1, 42750190: 42750190
29 P3H1 NM_022356.3(P3H1): c.1473+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs114044880 GRCh37 Chromosome 1, 43218203: 43218203
30 P3H1 NM_022356.3(P3H1): c.1473+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs114044880 GRCh38 Chromosome 1, 42752532: 42752532
31 P3H1 NM_022356.3(P3H1): c.1233G> A (p.Arg411=) single nucleotide variant Benign rs61746653 GRCh37 Chromosome 1, 43220652: 43220652
32 P3H1 NM_022356.3(P3H1): c.1233G> A (p.Arg411=) single nucleotide variant Benign rs61746653 GRCh38 Chromosome 1, 42754981: 42754981
33 P3H1 NM_022356.3(P3H1): c.1026C> T (p.Ala342=) single nucleotide variant Benign rs61100157 GRCh37 Chromosome 1, 43223508: 43223508
34 P3H1 NM_022356.3(P3H1): c.1026C> T (p.Ala342=) single nucleotide variant Benign rs61100157 GRCh38 Chromosome 1, 42757837: 42757837
35 P3H1 NM_022356.3(P3H1): c.139G> T (p.Ala47Ser) single nucleotide variant Benign rs55716016 GRCh37 Chromosome 1, 43232504: 43232504
36 P3H1 NM_022356.3(P3H1): c.139G> T (p.Ala47Ser) single nucleotide variant Benign rs55716016 GRCh38 Chromosome 1, 42766833: 42766833
37 P3H1 NM_022356.3(P3H1): c.2115C> T (p.Leu705=) single nucleotide variant Benign/Likely benign rs199887811 GRCh37 Chromosome 1, 43212464: 43212464
38 P3H1 NM_022356.3(P3H1): c.2115C> T (p.Leu705=) single nucleotide variant Benign/Likely benign rs199887811 GRCh38 Chromosome 1, 42746793: 42746793
39 P3H1 NM_022356.3(P3H1): c.1812C> T (p.Pro604=) single nucleotide variant Benign rs34809608 GRCh37 Chromosome 1, 43213897: 43213897
40 P3H1 NM_022356.3(P3H1): c.1812C> T (p.Pro604=) single nucleotide variant Benign rs34809608 GRCh38 Chromosome 1, 42748226: 42748226
41 P3H1 NM_022356.3(P3H1): c.1569+3A> G single nucleotide variant Benign rs76871760 GRCh37 Chromosome 1, 43217942: 43217942
42 P3H1 NM_022356.3(P3H1): c.1569+3A> G single nucleotide variant Benign rs76871760 GRCh38 Chromosome 1, 42752271: 42752271
43 P3H1 NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg) single nucleotide variant Benign rs6700677 GRCh37 Chromosome 1, 43223489: 43223489
44 P3H1 NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg) single nucleotide variant Benign rs6700677 GRCh38 Chromosome 1, 42757818: 42757818
45 P3H1 NM_022356.3(P3H1): c.1284C> T (p.Ile428=) single nucleotide variant Benign rs61746642 GRCh37 Chromosome 1, 43220601: 43220601
46 P3H1 NM_022356.3(P3H1): c.1284C> T (p.Ile428=) single nucleotide variant Benign rs61746642 GRCh38 Chromosome 1, 42754930: 42754930
47 P3H1 NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg) single nucleotide variant Uncertain significance rs139259804 GRCh37 Chromosome 1, 43218010: 43218010
48 P3H1 NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg) single nucleotide variant Uncertain significance rs139259804 GRCh38 Chromosome 1, 42752339: 42752339
49 P3H1 NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn) single nucleotide variant Uncertain significance rs144336336 GRCh37 Chromosome 1, 43213903: 43213903
50 P3H1 NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn) single nucleotide variant Uncertain significance rs144336336 GRCh38 Chromosome 1, 42748232: 42748232

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 COL1A1 COL1A2 CRTAP P3H1
2
Show member pathways
11.71 COL1A1 COL1A2
3 11.61 COL1A1 COL1A2
4
Show member pathways
11.58 COL1A1 COL1A2 CRTAP P3H1
5
Show member pathways
11.53 COL1A1 COL1A2
6 11.49 COL1A1 COL1A2
7 11.46 COL1A1 COL1A2
8 11.26 COL1A1 COL1A2
9 11.22 COL1A1 COL1A2
10 11.11 COL1A1 COL1A2
11 10.97 COL1A1 COL1A2
12 10.91 COL1A1 COL1A2
13 10.78 COL1A1 COL1A2
14 10.52 COL1A1 COL1A2

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 extracellular region GO:0005576 9.62 COL1A1 COL1A2 CRTAP P3H1
2 endoplasmic reticulum GO:0005783 9.46 COL1A1 COL1A2 CRTAP P3H1
3 collagen trimer GO:0005581 9.26 COL1A1 COL1A2
4 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2
5 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 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.55 COL1A1 COL1A2
2 leukocyte migration GO:0050900 9.54 COL1A1 COL1A2
3 extracellular matrix organization GO:0030198 9.52 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.51 COL1A1 COL1A2
5 protein stabilization GO:0050821 9.49 CRTAP P3H1
6 skeletal system development GO:0001501 9.48 COL1A1 COL1A2
7 platelet activation GO:0030168 9.46 COL1A1 COL1A2
8 collagen catabolic process GO:0030574 9.43 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.4 COL1A1 COL1A2
10 chaperone-mediated protein folding GO:0061077 9.37 CRTAP P3H1
11 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
12 collagen fibril organization GO:0030199 9.26 COL1A1 COL1A2
13 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
14 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
15 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 protein-containing complex binding GO:0044877 9.26 CRTAP P3H1
2 protease binding GO:0002020 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Osteogenesis Imperfecta, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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