MCID: OST125
MIFTS: 23

Osteopetrosis, Autosomal Dominant 1 malady

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

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 1

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Sources:
46OMIM, 9diseasecard, 61UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Osteopetrosis, Autosomal Dominant 1:

Name: Osteopetrosis, Autosomal Dominant 1 46 9 61
Autosomal Dominant Osteopetrosis Type 1 42 48 22
 
Osteopetrosis Autosomal Dominant Type 1 42
Opta1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 607634
Orphanet48 2783
MESH via Orphanet34 C536056
ICD10 via Orphanet26 Q78.2
UMLS via Orphanet62 C2931097

Summaries for Osteopetrosis, Autosomal Dominant 1

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OMIM:46 The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to... (607634) more...

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 autosomal dominant inheritance, conductive hearing impairment and abnormality of the vertebral column. An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include bone.

NIH Rare Diseases:42 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

Related Diseases for Osteopetrosis, Autosomal Dominant 1

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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 autosomal dominant inheritance HP:0000006
2 conductive hearing impairment HP:0000405
3 abnormality of the vertebral column HP:0000925
4 headache HP:0002315
5 abnormality of pelvic girdle bone morphology HP:0002644
6 thickened calvaria HP:0002684
7 generalized osteosclerosis HP:0005789

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 1

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Drug clinical trials:

Search ClinicalTrials for Osteopetrosis, Autosomal Dominant 1

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 122

Anatomical Context for Osteopetrosis, Autosomal Dominant 1

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

31
Bone

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:

63
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 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet