OI10
MCID: OST127
MIFTS: 33

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 58 13 41 74
Osteogenesis Imperfecta Type 10 12 54 30 6 15
Osteogenesis Imperfecta Type X 12 54 76
Oi10 58 12 76
Oi Type X 54 76
Osteogenesis Imperfecta 10 76
Oi, Type X 58
Oi Type 10 54
Oi-X 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
osteogenesis imperfecta, type x:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type X

UniProtKB/Swiss-Prot : 76 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 col1a1/2-related osteogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type X is SERPINH1 (Serpin Family H Member 1). The drugs Nitric Oxide and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and endothelial, 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 : 58 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

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type X

Human phenotypes related to Osteogenesis Imperfecta, Type X:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 genu valgum 33 HP:0002857
3 osteopenia 33 HP:0000938
4 scoliosis 33 HP:0002650
5 inguinal hernia 33 HP:0000023
6 short stature 33 HP:0004322
7 prominent forehead 33 HP:0011220
8 micrognathia 33 HP:0000347
9 broad ribs 33 HP:0000885
10 dentinogenesis imperfecta 33 HP:0000703
11 narrow chest 33 HP:0000774
12 platyspondyly 33 HP:0000926
13 micromelia 33 HP:0002983
14 joint laxity 33 HP:0001388
15 thin ribs 33 HP:0000883
16 nephrolithiasis 33 HP:0000787
17 high forehead 33 HP:0000348
18 midface retrusion 33 HP:0011800
19 pyloric stenosis 33 HP:0002021
20 triangular face 33 HP:0000325
21 high pitched voice 33 HP:0001620
22 blue sclerae 33 HP:0000592
23 generalized hypotonia 33 HP:0001290
24 relative macrocephaly 33 HP:0004482
25 generalized joint laxity 33 HP:0002761
26 vertebral compression fractures 33 HP:0002953
27 narrow forehead 33 HP:0000341
28 shallow orbits 33 HP:0000586
29 chronic lung disease 33 HP:0006528

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Osteogenesis Imperfecta, Type X (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2 Antioxidants Phase 4
3 Vasodilator Agents Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Free Radical Scavengers Phase 4
6 Anti-Asthmatic Agents Phase 4
7 Autonomic Agents Phase 4
8 Neurotransmitter Agents Phase 4
9 Endothelium-Dependent Relaxing Factors Phase 4
10 Bronchodilator Agents Phase 4
11 Endothelial Growth Factors Phase 4
12 Respiratory System Agents Phase 4
13 Mitogens Phase 4
14 Protective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Early iNO for Oxidative Stress, Vascular Tone and Inflammation in Babies With Hypoxic Respiratory Failure Recruiting NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO

Search 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 30 SERPINH1

Anatomical Context for Osteogenesis Imperfecta, Type X

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

42
Bone, Lung, Endothelial

Publications for Osteogenesis Imperfecta, Type X

Articles related to Osteogenesis Imperfecta, Type X:

# Title Authors Year
1
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X. ( 29520608 )
2018

Variations for Osteogenesis Imperfecta, Type X

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

76
# Symbol AA change Variation ID SNP ID
1 SERPINH1 p.Leu78Pro VAR_063602 rs137853892

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type X:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINH1 NM_001235.3(SERPINH1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs137853892 GRCh37 Chromosome 11, 75277627: 75277627
2 SERPINH1 NM_001235.3(SERPINH1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs137853892 GRCh38 Chromosome 11, 75566582: 75566582
3 SERPINH1 NM_001235.3(SERPINH1): c.710T> C (p.Met237Thr) single nucleotide variant Pathogenic rs886039819 GRCh38 Chromosome 11, 75568818: 75568818
4 SERPINH1 NM_001235.3(SERPINH1): c.710T> C (p.Met237Thr) single nucleotide variant Pathogenic rs886039819 GRCh37 Chromosome 11, 75279863: 75279863
5 SERPINH1 NM_001235.3(SERPINH1): c.1214G> A (p.Arg405His) single nucleotide variant Uncertain significance rs781125078 GRCh37 Chromosome 11, 75283085: 75283085
6 SERPINH1 NM_001235.3(SERPINH1): c.1214G> A (p.Arg405His) single nucleotide variant Uncertain significance rs781125078 GRCh38 Chromosome 11, 75572040: 75572040

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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