OPTA1
MCID: OST049
MIFTS: 25

Osteopetrosis Autosomal Dominant Type 1 (OPTA1) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases, Neuronal diseases, Nephrological diseases, Blood diseases categories

Summaries for Osteopetrosis Autosomal Dominant Type 1

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Osteopetrosis Autosomal Dominant Type 1, also known as autosomal dominant osteopetrosis type 1, is related to osteopetrosis autosomal dominant type 2 and osteopetrosis autosomal recessive 1. An important gene associated with Osteopetrosis Autosomal Dominant Type 1 is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include bone.

Description from OMIM:48 607634

Aliases & Classifications for Osteopetrosis Autosomal Dominant Type 1

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Sources:
44NIH Rare Diseases, 63UMLS, 23GTR, 50Orphanet, 48OMIM, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

osteopetrosis autosomal dominant type 1 44 63
autosomal dominant osteopetrosis type 1 44 23 50
osteopetrosis, autosomal dominant 1 48 63
opta1 44


External Ids:

ICD10 via Orphanet27 Q78.2
UMLS via Orphanet64 C2931097
OMIM48 607634
MESH via Orphanet37 C536056

Related Diseases for Osteopetrosis Autosomal Dominant Type 1

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18GeneCards, 19GeneDecks
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Symptoms for Osteopetrosis Autosomal Dominant Type 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

607634

Clinical features from OMIM:

607634

Drugs & Therapeutics for Osteopetrosis Autosomal Dominant Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Osteopetrosis Autosomal Dominant Type 1

Drug clinical trials:

Search ClinicalTrials for Osteopetrosis Autosomal Dominant Type 1

Search NIH Clinical Center for Osteopetrosis Autosomal Dominant Type 1

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Genetic Tests for Osteopetrosis Autosomal Dominant Type 1

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23GTR
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Genetic tests related to Osteopetrosis Autosomal Dominant Type 1:

id Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Dominant Type 123

Anatomical Context for Osteopetrosis Autosomal Dominant Type 1

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34MalaCards
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MalaCards organs/tissues related to Osteopetrosis Autosomal Dominant Type 1:

34
Bone

Animal Models for Osteopetrosis Autosomal Dominant Type 1 or affiliated genes

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Publications for Osteopetrosis Autosomal Dominant Type 1

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Variations for Osteopetrosis Autosomal Dominant Type 1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis Autosomal Dominant Type 1:

65
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 Type 1:

1
id Gene Name 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 Type 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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Pathways for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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Compounds for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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GO Terms for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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Products for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteopetrosis Autosomal Dominant Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet