OI10
MCID: OST127
MIFTS: 30

Osteogenesis Imperfecta, Type X (OI10)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type X

MalaCards integrated aliases for Osteogenesis Imperfecta, Type X:

Name: Osteogenesis Imperfecta, Type X 57 13 40 72
Osteogenesis Imperfecta Type 10 12 53 29 6 15
Osteogenesis Imperfecta Type X 12 53 74
Oi10 57 12 74
Oi Type X 53 74
Osteogenesis Imperfecta 10 74
Oi, Type X 57
Oi Type 10 53
Oi-X 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 sibs and an unrelated patient (patient a) (last curated october 2016)


HPO:

32
osteogenesis imperfecta, type x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110346
MeSH 44 D010013
ICD10 33 Q78.0
MedGen 42 C3151211
UMLS 72 C3151211

Summaries for Osteogenesis Imperfecta, Type X

UniProtKB/Swiss-Prot : 74 Osteogenesis imperfecta 10: 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. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.

MalaCards based summary : Osteogenesis Imperfecta, Type X, also known as osteogenesis imperfecta type 10, is related to brittle bone disorder and bone mineral density quantitative trait locus 3. An important gene associated with Osteogenesis Imperfecta, Type X is SERPINH1 (Serpin Family H Member 1). Affiliated tissues include bone and lung, and related phenotypes are malar flattening and genu valgum

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the SERPINH gene on chromosome 11q13.

OMIM : 57 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010). (613848)

Related Diseases for Osteogenesis Imperfecta, Type X

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



Diseases related to Osteogenesis Imperfecta, Type X

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type X

Human phenotypes related to Osteogenesis Imperfecta, Type X:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 genu valgum 32 HP:0002857
3 osteopenia 32 HP:0000938
4 scoliosis 32 HP:0002650
5 inguinal hernia 32 HP:0000023
6 short stature 32 HP:0004322
7 prominent forehead 32 HP:0011220
8 micrognathia 32 HP:0000347
9 narrow forehead 32 HP:0000341
10 generalized hypotonia 32 HP:0001290
11 broad ribs 32 HP:0000885
12 dentinogenesis imperfecta 32 HP:0000703
13 narrow chest 32 HP:0000774
14 platyspondyly 32 HP:0000926
15 micromelia 32 HP:0002983
16 joint laxity 32 HP:0001388
17 thin ribs 32 HP:0000883
18 nephrolithiasis 32 HP:0000787
19 high forehead 32 HP:0000348
20 midface retrusion 32 HP:0011800
21 pyloric stenosis 32 HP:0002021
22 triangular face 32 HP:0000325
23 high pitched voice 32 HP:0001620
24 blue sclerae 32 HP:0000592
25 relative macrocephaly 32 HP:0004482
26 generalized joint laxity 32 HP:0002761
27 chronic lung disease 32 HP:0006528
28 vertebral compression fractures 32 HP:0002953
29 shallow orbits 32 HP:0000586

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
joint laxity, generalized
bowing of long bones
short limbs, relative

Growth Height:
short stature

Head And Neck Mouth:
micrognathia

Chest External Features:
narrow chest

Growth Weight:
weight less than 5th centile

Head And Neck Teeth:
dentinogenesis imperfecta (patient a)

Abdomen Gastrointestinal:
pyloric stenosis (patient a)

Genitourinary Kidneys:
renal stones, bilateral (patient a)

Neurologic Central Nervous System:
hypotonia, generalized (patient a)

Skeletal Spine:
scoliosis
platyspondyly
vertebral compression fractures

Head And Neck Head:
prominent forehead
high forehead
macrocephaly, relative
bitemporal narrowing
open anterior fontanel

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
thin ribs

Head And Neck Face:
triangular face
midface hypoplasia

Head And Neck Eyes:
blue sclera (patient a)
shallow orbits (patient a)

Respiratory Lung:
chronic lung disease (patient a)

Genitourinary Internal Genitalia Male:
inguinal hernia, bilateral (patient a)

Skeletal:
bone fractures, multiple
osteopenia, generalized
bone deformities, multiple

Voice:
high-pitched voice (patient a)

Clinical features from OMIM:

613848

Drugs & Therapeutics for Osteogenesis Imperfecta, Type X

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

Genetic Tests for Osteogenesis Imperfecta, Type X

Genetic tests related to Osteogenesis Imperfecta, Type X:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 10 29 SERPINH1

Anatomical Context for Osteogenesis Imperfecta, Type X

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

41
Bone, Lung

Publications for Osteogenesis Imperfecta, Type X

Articles related to Osteogenesis Imperfecta, Type X:

(show all 18)
# Title Authors PMID Year
1
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen. 8 71
25510505 2015
2
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 8 71
20188343 2010
3
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 71
19358256 2009
4
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 71
18996919 2009
5
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 71
18311573 2008
6
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. 71
17078022 2007
7
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 71
16879195 2006
8
COL1A1/2-Related Osteogenesis Imperfecta 71
20301472 2005
9
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 71
15241796 2004
10
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 71
15024745 2004
11
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 71
11317364 2001
12
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 71
11113887 2000
13
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. 71
8669434 1996
14
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 71
7942841 1994
15
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 71
2037280 1991
16
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. 71
3722186 1986
17
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 71
1137656 1975
18
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X. 38
29520608 2018

Variations for Osteogenesis Imperfecta, Type X

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type X:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SERPINH1 NM_001235.4(SERPINH1): c.710T> C (p.Met237Thr) single nucleotide variant Pathogenic rs886039819 11:75279863-75279863 11:75568818-75568818
2 SERPINH1 deletion Pathogenic 11:75265452-75270725 11:75554407-75559680
3 SERPINH1 NM_001235.4(SERPINH1): c.1233dup (p.Asp412Ter) duplication Pathogenic 11:75283104-75283104 11:75572059-75572059
4 SERPINH1 NM_001235.4(SERPINH1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs137853892 11:75277627-75277627 11:75566582-75566582
5 SERPINH1 NM_001235.4(SERPINH1): c.580C> A (p.Arg194Ser) single nucleotide variant Uncertain significance rs141721173 11:75277974-75277974 11:75566929-75566929
6 SERPINH1 NM_001235.4(SERPINH1): c.1214G> A (p.Arg405His) single nucleotide variant Uncertain significance rs781125078 11:75283085-75283085 11:75572040-75572040
7 SERPINH1 NM_001235.4(SERPINH1): c.918del (p.Leu306fs) deletion Uncertain significance 11:75280179-75280180 11:75569135-75569135

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type X:

74
# Symbol AA change Variation ID SNP ID
1 SERPINH1 p.Leu78Pro VAR_063602 rs137853892

Expression for Osteogenesis Imperfecta, Type X

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

Pathways for Osteogenesis Imperfecta, Type X

GO Terms for Osteogenesis Imperfecta, Type X

Sources for Osteogenesis Imperfecta, Type X

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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