OPTA1
MCID: OST125
MIFTS: 29

Osteopetrosis, Autosomal Dominant 1 (OPTA1) malady

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

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 1

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Sources:
11Disease Ontology, 12diseasecard, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 52 70 12 68
Autosomal Dominant Osteopetrosis Type 1 11 48 54
Osteopetrosis Autosomal Dominant Type 1 48 27 39
 
Opta1 11 48 70
Autosomal Dominant Osteopetrosis 1 11

Characteristics:

Orphanet epidemiological data:

54
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

64
osteopetrosis, autosomal dominant 1:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 607634
Disease Ontology11 DOID:0110937
ICD1030 Q78.2
Orphanet54 ORPHA2783
MESH via Orphanet40 C536056
UMLS via Orphanet69 C2931097
ICD10 via Orphanet31 Q78.2
MedGen37 C1843330

Summaries for Osteopetrosis, Autosomal Dominant 1

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NIH Rare Diseases:48 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on x-ray. depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. in rare cases, there may be neurological impairment or involvement of other body systems. osteopetrosis may be caused by mutations in at least 10 genes. inheritance can be autosomal recessive, autosomal dominant, or x-linked recessive with the most severe forms being autosomal recessive. management depends on the specific symptoms and severity and may include vitamin d supplements, various medications, and/or surgery. adult osteopetrosis requires no treatment by itself, but complications may require intervention. last updated: 7/20/2016

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 headache, headache and conductive hearing impairment. An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and bone marrow.

Disease Ontology:11 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has material basis in heterozygous mutation in the LRP5 gene on chromosome 11q13.

OMIM:52 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Osteopetrosis, Autosomal Dominant 1

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Symptoms by clinical synopsis from OMIM:

607634

Clinical features from OMIM:

607634

Human phenotypes related to Osteopetrosis, Autosomal Dominant 1:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 conductive hearing impairment64 HP:0000405
2 abnormality of the vertebral column64 HP:0000925
3 headache64 HP:0002315
4 abnormality of pelvic girdle bone morphology64 HP:0002644
5 thickened calvaria64 HP:0002684
6 generalized osteosclerosis64 HP:0005789
7 osteopetrosis64 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 22175
2Interferon-gammaPhase 2152
3Antiviral AgentsPhase 29967
4Anti-Infective AgentsPhase 222062

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of ACTIMMUNE in Patients With ADO2RecruitingNCT02584608Phase 2

Search NIH Clinical Center for Osteopetrosis, Autosomal Dominant 1


Cochrane evidence based reviews: osteopetrosis autosomal dominant type 1

Genetic Tests for Osteopetrosis, Autosomal Dominant 1

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Genetic tests related to Osteopetrosis, Autosomal Dominant 1:

id Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Dominant Type 127

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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

36
Bone, Bone marrow

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:

70
id Symbol AA change Variation ID SNP ID
1LRP5p.Asp111TyrVAR_021807
2LRP5p.Gly171ArgVAR_021808rs121908669
3LRP5p.Ala242ThrVAR_021812rs121908670
4LRP5p.Thr253IleVAR_021813rs121908673

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)SNVPathogenicrs121908669GRCh37Chr 11, 68125140: 68125140
2LRP5NM_ 002335.3(LRP5): c.724G> A (p.Ala242Thr)SNVPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
3LRP5NM_ 002335.3(LRP5): c.758C> T (p.Thr253Ile)SNVPathogenicrs121908673GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet