MCID: OST127
MIFTS: 31

Osteogenesis Imperfecta, Type X

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

Aliases & Classifications for Osteogenesis Imperfecta, Type X

MalaCards integrated aliases for Osteogenesis Imperfecta, Type X:

Name: Osteogenesis Imperfecta, Type X 57 13 40 73
Osteogenesis Imperfecta Type 10 12 53 29 6 15
Osteogenesis Imperfecta Type X 12 53 75
Oi10 57 12 75
Oi Type X 53 75
Osteogenesis Imperfecta 10 75
Oi, Type X 57
Oi Type 10 53
Oi-X 75

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:



Summaries for Osteogenesis Imperfecta, Type X

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Osteogenesis Imperfecta, Type X is SERPINH1 (Serpin Family H Member 1). The drugs Nitric Oxide and Anti-Asthmatic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and endothelial, and related phenotypes are inguinal hernia and malar flattening

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

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type X

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)

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Osteogenesis Imperfecta, Type X:

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

Drugs & Therapeutics for Osteogenesis Imperfecta, Type X

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068 160954
2 Anti-Asthmatic Agents Phase 4
3 Antioxidants Phase 4
4 Autonomic Agents Phase 4
5 Bronchodilator Agents Phase 4
6 Endothelial Growth Factors Phase 4
7 Endothelium-Dependent Relaxing Factors Phase 4
8 Mitogens Phase 4
9 Neurotransmitter Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Protective Agents Phase 4
12 Respiratory System Agents Phase 4
13 Vasodilator 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 29 SERPINH1

Anatomical Context for Osteogenesis Imperfecta, Type X

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

41
Bone, Lung, Endothelial

Publications for Osteogenesis Imperfecta, Type X

Articles related to Osteogenesis Imperfecta, Type X:

# Title Authors Year
1
Surgical treatment in Osteogenesis Imperfecta - 10 years experience. ( 23904885 )
2013

Variations for Osteogenesis Imperfecta, Type X

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

75
# 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

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 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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