MCID: HYP537

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 malady

Genetic diseases (common), Bone diseases categories

Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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48OMIM, 34MalaCards
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MalaCards: Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1, is also known as hyperhydroxyprolinemia An important gene associated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)).

Description from OMIM:48 259100

Aliases & Classifications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


Aliases & Descriptions:

hypertrophic osteoarthropathy, primary, autosomal recessive 1 48
hyperhydroxyprolinemia 63


Related Diseases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Diseases in the Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 family:

Primary Hypertrophic Osteoarthropathy, Autosomal Recessive hypertrophic osteoarthropathy, primary, autosomal recessive 1

Symptoms for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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48OMIM
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Clinical features from OMIM:

259100

Drugs & Therapeutics for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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

Search CenterWatch for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Drug clinical trials:

Search ClinicalTrials for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Search NIH Clinical Center for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Search CenterWatch for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Genetic Tests for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Animal Models for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 or affiliated genes

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Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 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 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1:

65
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Clinvar genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPGDHPGD, 10-BP DEL/2-BP INS, NT232indelPathogenic
2HPGDHPGD, 2-BP DEL, 175CTdeletionPathogenic

Expression for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Search GEO for disease gene expression data for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1.

Pathways for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Compounds for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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GO Terms for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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Products for genes affiliated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 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