MCID: OST125
MIFTS: 28

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:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 51 69 12 67
Autosomal Dominant Osteopetrosis Type 1 47 53 26
 
Opta1 47 69
Osteopetrosis Autosomal Dominant Type 1 47

Characteristics:

Orphanet epidemiological data:

53
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

63
osteopetrosis, autosomal dominant 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 607634
Orphanet53 ORPHA2783
MESH via Orphanet39 C536056
UMLS via Orphanet68 C2931097
ICD10 via Orphanet30 Q78.2
MedGen36 C1843330
MeSH38 D010022

Summaries for Osteopetrosis, Autosomal Dominant 1

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NIH Rare Diseases:47 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 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 bone marrow.

OMIM:51 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

UniProtKB/Swiss-Prot:69 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

Human phenotypes related to Osteopetrosis, Autosomal Dominant 1:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 conductive hearing impairment63 HP:0000405
2 abnormality of the vertebral column63 HP:0000925
3 headache63 HP:0002315
4 abnormality of pelvic girdle bone morphology63 HP:0002644
5 thickened calvaria63 HP:0002684
6 generalized osteosclerosis63 HP:0005789
7 osteopetrosis63 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 22137
2Interferon-gammaPhase 2145
3Antiviral AgentsPhase 29732
4Anti-Infective AgentsPhase 221402

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 126

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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

35
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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet