MCID: PYR017
MIFTS: 15

Pyropoikilocytosis Hereditary malady

Genetic diseases, Rare diseases categories
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Summaries for Pyropoikilocytosis Hereditary

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65Wikipedia, 33MalaCards
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Wikipedia:65 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

MalaCards: Pyropoikilocytosis Hereditary, also known as hereditary pyropoikilocytosis, is related to hereditary elliptocytosis and pyropoikilocytosis. An important gene associated with Pyropoikilocytosis Hereditary is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Aliases & Classifications for Pyropoikilocytosis Hereditary

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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 45Novoseek
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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

pyropoikilocytosis hereditary 43
hereditary pyropoikilocytosis 43 20 22 62
hyperpigmentation, familial progressive 62
pyropoikilocytosis, hereditary 45


Related Diseases for Pyropoikilocytosis Hereditary

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17GeneCards, 18GeneDecks
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Diseases in the Pyropoikilocytosis family:

pyropoikilocytosis hereditary

Diseases related to Pyropoikilocytosis Hereditary via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis10.5
2pyropoikilocytosis10.5
3hereditary spherocytosis10.2
4congenital hemolytic anemia10.2
5hemolytic anemia10.2

Graphical network of diseases related to Pyropoikilocytosis Hereditary:



Diseases related to pyropoikilocytosis hereditary

Symptoms for Pyropoikilocytosis Hereditary

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Drugs & Therapeutics for Pyropoikilocytosis Hereditary

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Pyropoikilocytosis Hereditary

Genetic Tests for Pyropoikilocytosis Hereditary

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20GeneTests, 22GTR
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Genetic tests related to Pyropoikilocytosis Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis20 22 SPTA1

Anatomical Context for Pyropoikilocytosis Hereditary

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Animal Models for Pyropoikilocytosis Hereditary or affiliated genes

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Publications for Pyropoikilocytosis Hereditary

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Variations for Pyropoikilocytosis Hereditary

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pyropoikilocytosis Hereditary:

1
id Gene Name Type Significance SNP ID Assembly Location
1SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
2SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
3SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
5SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431

Expression for genes affiliated with Pyropoikilocytosis Hereditary

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyropoikilocytosis Hereditary

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Pathways for genes affiliated with Pyropoikilocytosis Hereditary

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Compounds for genes affiliated with Pyropoikilocytosis Hereditary

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GO Terms for genes affiliated with Pyropoikilocytosis Hereditary

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Products for genes affiliated with Pyropoikilocytosis Hereditary

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Pyropoikilocytosis Hereditary

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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