MCID: PYR017
MIFTS: 25

Pyropoikilocytosis Hereditary malady

Genetic category

Summaries for Pyropoikilocytosis Hereditary

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64Wikipedia, 33MalaCards
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Wikipedia:64 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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43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

pyropoikilocytosis hereditary 43
hereditary pyropoikilocytosis 43 20 22 61
hyperpigmentation, familial progressive 61
pyropoikilocytosis, hereditary 45


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 elliptocytosis30.9SPTA1, SPTB
2pyropoikilocytosis30.8SPTA1
3hereditary spherocytosis30.2SPTA1, SPTB
4hyperpigmentation, familial progressive, 210.3
5hyperpigmentation, familial progressive, 110.3
6homozygous hereditary elliptocytosis10.2
7hypophosphatasia10.1
8thalassemia10.0SPTB

Graphical network of diseases related to Pyropoikilocytosis Hereditary:



Diseases related to pyropoikilocytosis hereditary

Clinical Features for Pyropoikilocytosis Hereditary

Drugs & Therapeutics for Pyropoikilocytosis Hereditary

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Animal Models for Pyropoikilocytosis Hereditary or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pyropoikilocytosis Hereditary:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1SPTA1, SPTB

Publications for Pyropoikilocytosis Hereditary

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51PubMed
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Articles related to Pyropoikilocytosis Hereditary:

(show all 37)
idTitleAuthorsYear
1
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
2
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
3
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
4
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
5
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
6
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
7
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
8
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
9
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
10
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
11
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
12
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
13
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
14
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
15
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
16
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
17
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
18
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
19
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
20
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
21
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
22
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
23
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
24
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
25
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
26
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
27
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
28
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
29
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
30
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
31
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
32
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
33
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
34
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
35
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
36
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
37
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Genetic Variations for Pyropoikilocytosis Hereditary

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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52QIAGEN, 54Reactome
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Pathways related to Pyropoikilocytosis Hereditary according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Pyropoikilocytosis Hereditary

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:0516939.0SPTA1, SPTB
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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Sources for Pyropoikilocytosis Hereditary

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet