MCID: OST125
MIFTS: 25

Osteopetrosis, Autosomal Dominant 1 malady

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

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 1

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 49 11 67 65
Autosomal Dominant Osteopetrosis Type 1 45 51 24
 
Opta1 45 67
Osteopetrosis Autosomal Dominant Type 1 45

Characteristics:

Orphanet epidemiological data:

51
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

61
osteopetrosis, autosomal dominant 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 607634
Orphanet51 2783
ICD10 via Orphanet28 Q78.2
MESH via Orphanet37 C536056
UMLS via Orphanet66 C2931097
MedGen34 C1843330
MeSH36 D010022
UMLS65 C1843330

Summaries for Osteopetrosis, Autosomal Dominant 1

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OMIM:49 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

MalaCards based summary: Osteopetrosis, Autosomal Dominant 1, also known as autosomal dominant osteopetrosis type 1, is related to osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal dominant 2, and has symptoms including conductive hearing impairment, abnormality of the vertebral column and headache. An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and eye.

NIH Rare Diseases:45 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or x-linked. the different types of the disorder can also be distinguished by the severity of their signs and symptoms. mutations in at least nine genes cause the various types of osteopetrosis. last updated: 11/14/2011

UniProtKB/Swiss-Prot:67 Osteopetrosis, autosomal dominant 1: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.

Symptoms for Osteopetrosis, Autosomal Dominant 1

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Symptoms by clinical synopsis from OMIM:

607634

Clinical features from OMIM:

607634

HPO human phenotypes related to Osteopetrosis, Autosomal Dominant 1:

(show all 7)
id Description Frequency HPO Source Accession
1 conductive hearing impairment HP:0000405
2 abnormality of the vertebral column HP:0000925
3 headache HP:0002315
4 abnormality of pelvic girdle bone morphology HP:0002644
5 thickened calvaria HP:0002684
6 generalized osteosclerosis HP:0005789
7 osteopetrosis HP:0011002

UMLS symptoms related to Osteopetrosis, Autosomal Dominant 1:


headache

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 1

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Drugs for Osteopetrosis, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1interferonsPhase 21930
2Interferon-gammaPhase 2137
3Antiviral AgentsPhase 28071
4Anti-Infective AgentsPhase 217220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of ACTIMMUNE in Patients With ADO2Not yet recruitingNCT02584608Phase 2

Search NIH Clinical Center for Osteopetrosis, Autosomal Dominant 1

Genetic Tests for Osteopetrosis, Autosomal Dominant 1

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Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 1:

33
Bone, Eye

Animal Models for Osteopetrosis, Autosomal Dominant 1 or affiliated genes

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Publications for Osteopetrosis, Autosomal Dominant 1

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Variations for Osteopetrosis, Autosomal Dominant 1

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UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Dominant 1:

67
id Symbol AA change Variation ID SNP ID
1LRP5p.Asp111TyrVAR_021807
2LRP5p.Gly171ArgVAR_021808
3LRP5p.Ala242ThrVAR_021812
4LRP5p.Thr253IleVAR_021813

Clinvar genetic disease variations for Osteopetrosis, Autosomal Dominant 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.511G> C (p.Gly171Arg)single nucleotide variantPathogenicrs121908669GRCh37Chr 11, 68125140: 68125140
2LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
3LRP5NM_002335.3(LRP5): c.758C> T (p.Thr253Ile)single nucleotide variantPathogenicrs121908673GRCh37Chr 11, 68131286: 68131286

Expression for genes affiliated with Osteopetrosis, Autosomal Dominant 1

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Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 1.

Pathways for genes affiliated with Osteopetrosis, Autosomal Dominant 1

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GO Terms for genes affiliated with Osteopetrosis, Autosomal Dominant 1

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Sources for Osteopetrosis, Autosomal Dominant 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet