OPTA1
MCID: OST049
MIFTS: 19

Osteopetrosis Autosomal Dominant Type 1 (OPTA1) malady

Bone, Fetal categories

Summaries for Osteopetrosis Autosomal Dominant Type 1

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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).

Description from OMIM:47 607634

Aliases & Classifications for Osteopetrosis Autosomal Dominant Type 1

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
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 43 61
autosomal dominant osteopetrosis type 1 43 22 49
osteopetrosis, autosomal dominant 1 47 61
opta1 43


External Ids:

ICD10 via Orphanet26 Q78.2
UMLS via Orphanet62 C2931097
OMIM47 607634
MESH via Orphanet36 C536056

Related Diseases for Osteopetrosis Autosomal Dominant Type 1

Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Osteopetrosis Autosomal Dominant Type 1

Sources:
47OMIM
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Clinical features from OMIM:

607634

Clinical synopsis from OMIM:

607634

Drugs & Therapeutics for Osteopetrosis Autosomal Dominant Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Search CenterWatch for Osteopetrosis Autosomal Dominant Type 1

Genetic Tests for Osteopetrosis Autosomal Dominant Type 1

Sources:
22GTR
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Genetic tests related to Osteopetrosis Autosomal Dominant Type 1:

id Genetic test Affiliating Genes
1 Osteopetrosis Autosomal Dominant Type 122

Anatomical Context for Osteopetrosis Autosomal Dominant Type 1

Animal Models for Osteopetrosis Autosomal Dominant Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Osteopetrosis Autosomal Dominant Type 1

Sources:
51PubMed
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Articles related to Osteopetrosis Autosomal Dominant Type 1:

idTitleAuthorsYear
1
Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13. (12054167)
2002
2
Mapping of autosomal dominant osteopetrosis type II (Albers-SchAPnberg disease) to chromosome 16p13.3. (11468688)
2001

Genetic Variations for Osteopetrosis Autosomal Dominant Type 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Osteopetrosis Autosomal Dominant Type 1:

63
id Symbol AA change Variation SNP ID
1LRP5p.Asp111TyrVAR_021807
2LRP5p.Gly171ArgVAR_021808
3LRP5p.Ala242ThrVAR_021812
4LRP5p.Thr253IleVAR_021813

Expression for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

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

Pathways for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

Compounds for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

GO Terms for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

Products for genes affiliated with Osteopetrosis Autosomal Dominant Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteopetrosis Autosomal Dominant Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet