MCID: OST125
MIFTS: 26

Osteopetrosis, Autosomal Dominant 1 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:
50OMIM, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 50 68 12 66
Autosomal Dominant Osteopetrosis Type 1 46 52 25
 
Opta1 46 68
Osteopetrosis Autosomal Dominant Type 1 46

Characteristics:

Orphanet epidemiological data:

52
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

62
osteopetrosis, autosomal dominant 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 607634
Orphanet52 ORPHA2783
ICD10 via Orphanet29 Q78.2
MESH via Orphanet38 C536056
UMLS via Orphanet67 C2931097
MedGen35 C1843330
MeSH37 D010022

Summaries for Osteopetrosis, Autosomal Dominant 1

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NIH Rare Diseases:46 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.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

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 22112

Interventional clinical trials:

idNameStatusNCT IDPhase
1Use of ACTIMMUNE in Patients With ADO2RecruitingNCT02584608Phase 2

Search NIH Clinical Center for Osteopetrosis, Autosomal Dominant 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 125

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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

34
Bone, Bone marrow

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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet