MCID: HYP537

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 malady

Genetic diseases (common), Bone diseases categories
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Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

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47OMIM, 33MalaCards
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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:47 259100

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

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47OMIM, 62UMLS
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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 47
hyperhydroxyprolinemia 62


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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47OMIM
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Clinical features from OMIM:

259100

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1

Search NIH Clinical Center 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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64UniProtKB/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:

64
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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2BioGPS, 15Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet