MCID: PYR017
MIFTS: 15

Pyropoikilocytosis Hereditary malady

Genetic diseases, Rare diseases categories

Summaries for Pyropoikilocytosis Hereditary

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66Wikipedia, 34MalaCards
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Wikipedia:66 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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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

pyropoikilocytosis hereditary 44
hereditary pyropoikilocytosis 44 21 23 63
hyperpigmentation, familial progressive 63
pyropoikilocytosis, hereditary 46


Related Diseases for Pyropoikilocytosis Hereditary

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pyropoikilocytosis Hereditary

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21GeneTests, 23GTR
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Genetic tests related to Pyropoikilocytosis Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis21 23 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, 16Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyropoikilocytosis Hereditary

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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