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
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Summaries for Osteopetrosis Autosomal Dominant Type 1

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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

MalaCards based summary: 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, and has symptoms including 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:46 607634

Aliases & Classifications for Osteopetrosis Autosomal Dominant Type 1

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Sources:
42NIH Rare Diseases, 62UMLS, 22GTR, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Osteopetrosis Autosomal Dominant Type 1, Aliases & Descriptions:

Name: Osteopetrosis Autosomal Dominant Type 1 42 62
Autosomal Dominant Osteopetrosis Type 1 42 22 48
 
Osteopetrosis, Autosomal Dominant 1 46 62
Opta1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant osteopetrosis type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

OMIM46 607634
MESH via Orphanet35 C536056
ICD10 via Orphanet26 Q78.2
UMLS via Orphanet63 C2931097

Related Diseases for Osteopetrosis Autosomal Dominant Type 1

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Symptoms for Osteopetrosis Autosomal Dominant Type 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 Type 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 Type 1

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Drug clinical trials:

Search ClinicalTrials for Osteopetrosis Autosomal Dominant Type 1

Search NIH Clinical Center for Osteopetrosis Autosomal Dominant Type 1

Genetic Tests for Osteopetrosis Autosomal Dominant Type 1

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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

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

32
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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UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis Autosomal Dominant Type 1:

64
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:

6
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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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

Sources for Osteopetrosis Autosomal Dominant Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet