MCID: PYR017
MIFTS: 20

Pyropoikilocytosis Hereditary malady

Genetic diseases category

Summaries for Pyropoikilocytosis Hereditary

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63Wikipedia, 32MalaCards
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Wikipedia:63 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)), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and NCAM signaling for neurite out-growth. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Pyropoikilocytosis Hereditary

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42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 44Novoseek
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Classifications:

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Global: Genetic diseases


Aliases & Descriptions:

pyropoikilocytosis hereditary 42
hereditary pyropoikilocytosis 42 20 22 60
hyperpigmentation, familial progressive 60
pyropoikilocytosis, hereditary 44


Related Diseases for Pyropoikilocytosis Hereditary

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17GeneCards, 18GeneDecks
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Diseases related to Pyropoikilocytosis Hereditary via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.8SPTA1, SPTB
2pyropoikilocytosis30.5SPTA1
3hereditary spherocytosis30.1SPTA1, SPTB
4hyperpigmentation, familial progressive, 210.2
5hyperpigmentation, familial progressive, 110.2
6congenital hemolytic anemia10.1
7hemolytic anemia10.1
8hypophosphatasia10.1
9alpha thalassemia10.0SPTB

Graphical network of diseases related to Pyropoikilocytosis Hereditary:



Diseases related to pyropoikilocytosis hereditary

Clinical Features for Pyropoikilocytosis Hereditary

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Drugs & Therapeutics for Pyropoikilocytosis Hereditary

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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36MGI
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MGI Mouse Phenotypes related to Pyropoikilocytosis Hereditary:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SPTA1, SPTB

Publications for Pyropoikilocytosis Hereditary

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Genetic Variations for Pyropoikilocytosis Hereditary

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Expression for genes affiliated with Pyropoikilocytosis Hereditary

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1BioGPS, 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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51QIAGEN, 53Reactome
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Pathways related to Pyropoikilocytosis Hereditary according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1SPTA1, SPTB
29.1SPTA1, SPTB
39.1SPTA1, SPTB

Compounds for genes affiliated with Pyropoikilocytosis Hereditary

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GO Terms for genes affiliated with Pyropoikilocytosis Hereditary

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16Gene Ontology
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Cellular components related to Pyropoikilocytosis Hereditary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spectrin-associated cytoskeletonGO:0147319.1SPTA1, SPTB
2actin cytoskeletonGO:0156299.1SPTA1, SPTB
3spectrinGO:0080919.0SPTA1, SPTB
4intrinsic to internal side of plasma membraneGO:0312358.8SPTA1, SPTB

Biological processes related to Pyropoikilocytosis Hereditary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound biosynthetic processGO:0067799.2SPTA1, SPTB
2plasma membrane organizationGO:0070099.1SPTA1, SPTB
3axon guidanceGO:0074119.1SPTA1, SPTB
4actin filament cappingGO:0516939.0SPTB, SPTA1
5hemopoiesisGO:0300978.8SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis Hereditary according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.1SPTA1, SPTB
2actin filament bindingGO:0510159.0SPTA1, SPTB
3structural constituent of cytoskeletonGO:0052008.8SPTA1, SPTB

Products for genes affiliated with Pyropoikilocytosis Hereditary

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyropoikilocytosis Hereditary

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet