HPP
MCID: PYR040
MIFTS: 36

Pyropoikilocytosis, Hereditary (HPP)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis, Hereditary

MalaCards integrated aliases for Pyropoikilocytosis, Hereditary:

Name: Pyropoikilocytosis, Hereditary 58 56 41
Hereditary Pyropoikilocytosis 54 76 38 30 6 74
Pyropoikilocytosis 58 77 13 6
Hpp 58 76
Pyropoikilocytosis Hereditary 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
pyropoikilocytosis, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 266140
KEGG 38 H01125
MedGen 43 C0520739
UMLS 74 C0520739

Summaries for Pyropoikilocytosis, Hereditary

OMIM : 58 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008). (266140)

MalaCards based summary : Pyropoikilocytosis, Hereditary, also known as hereditary pyropoikilocytosis, is related to hereditary elliptocytosis and congenital hemolytic anemia. An important gene associated with Pyropoikilocytosis, Hereditary is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include testes, and related phenotypes are hemolytic anemia and elliptocytosis

UniProtKB/Swiss-Prot : 76 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia : 77 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis, Hereditary

Diseases related to Pyropoikilocytosis, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hereditary elliptocytosis 29.9 SPTA1 SPTB
2 congenital hemolytic anemia 29.6 SPTA1 SPTB
3 hereditary spherocytosis 29.5 SPTA1 SPTB
4 hemolytic anemia 29.5 SPTA1 SPTB
5 hypophosphatasia 11.9
6 hyperuricemia 10.2
7 malaria 10.1
8 rheumatoid arthritis 10.0
9 arthritis 10.0
10 pemphigus foliaceus 10.0
11 gout 10.0
12 interstitial lung disease 10.0
13 lung disease 10.0
14 psoriasis 10.0

Graphical network of the top 20 diseases related to Pyropoikilocytosis, Hereditary:



Diseases related to Pyropoikilocytosis, Hereditary

Symptoms & Phenotypes for Pyropoikilocytosis, Hereditary

Human phenotypes related to Pyropoikilocytosis, Hereditary:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878
2 elliptocytosis 33 HP:0004445
3 pyropoikilocytosis 33 HP:0004839
4 microspherocytosis 33 HP:0004835

Symptoms via clinical synopsis from OMIM:

58
Heme:
hemolytic anemia
poikilocytosis
elliptocytosis
pyropoikilocytosis
microspherocytosis

Lab:
red cell thermal sensitivity
increased susceptibility of spectrin to thermal denaturation

Clinical features from OMIM:

266140

Drugs & Therapeutics for Pyropoikilocytosis, Hereditary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Novel Mutation of the Spectrin Gene Completed NCT00723567

Search NIH Clinical Center for Pyropoikilocytosis, Hereditary

Genetic Tests for Pyropoikilocytosis, Hereditary

Genetic tests related to Pyropoikilocytosis, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis 30 SPTA1

Anatomical Context for Pyropoikilocytosis, Hereditary

MalaCards organs/tissues related to Pyropoikilocytosis, Hereditary:

42
Testes

Publications for Pyropoikilocytosis, Hereditary

Articles related to Pyropoikilocytosis, Hereditary:

(show all 37)
# Title Authors Year
1
Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes. ( 30035308 )
2018
2
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. ( 30198572 )
2018
3
Targeted next generation sequencing identifies a novel I^-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis. ( 28699249 )
2017
4
Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease. ( 28863418 )
2016
5
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
6
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. ( 22882093 )
2012
7
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
8
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. ( 18815189 )
2008
9
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. ( 18492110 )
2008
10
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. ( 18454487 )
2008
11
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
12
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. ( 16150946 )
2005
13
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. ( 14687038 )
2004
14
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
15
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. ( 7795252 )
1995
16
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. ( 8364214 )
1993
17
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. ( 8418610 )
1993
18
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. ( 17590771 )
1991
19
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
20
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. ( 1845156 )
1991
21
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
22
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
23
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. ( 3167214 )
1988
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
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. ( 6476002 )
1984
29
Identification of the hereditary pyropoikilocytosis carrier state. ( 6722357 )
1984
30
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. ( 6473460 )
1984
31
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. ( 6640107 )
1983
32
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. ( 6863544 )
1983
33
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. ( 7130392 )
1982
34
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. ( 7099765 )
1982
35
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. ( 7276161 )
1981
36
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. ( 7448405 )
1981
37
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. ( 447859 )
1979

Variations for Pyropoikilocytosis, Hereditary

UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis, Hereditary:

76
# Symbol AA change Variation ID SNP ID
1 SPTA1 p.Lys48Arg VAR_001335 rs121918644
2 SPTA1 p.Leu207Pro VAR_001339 rs121918643

ClinVar genetic disease variations for Pyropoikilocytosis, Hereditary:

6 (show top 50) (show all 411)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001355436.2(SPTB): c.6053C> G (p.Ala2018Gly) single nucleotide variant Pathogenic rs121918647 GRCh37 Chromosome 14, 65234547: 65234547
2 SPTB NM_001355436.2(SPTB): c.6053C> G (p.Ala2018Gly) single nucleotide variant Pathogenic rs121918647 GRCh38 Chromosome 14, 64767829: 64767829
3 SPTA1 NM_003126.3(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh37 Chromosome 1, 158655027: 158655027
4 SPTA1 NM_003126.3(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh38 Chromosome 1, 158685237: 158685237
5 SPTA1 NM_003126.3(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
6 SPTA1 NM_003126.3(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh38 Chromosome 1, 158685290: 158685290
7 SPTA1 NM_003126.3(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
8 SPTA1 NM_003126.3(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh38 Chromosome 1, 158685290: 158685290
9 SPTA1 NM_003126.3(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
10 SPTA1 NM_003126.3(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh38 Chromosome 1, 158685289: 158685289
11 SPTA1 NM_003126.3(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh37 Chromosome 1, 158650431: 158650431
12 SPTA1 NM_003126.3(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh38 Chromosome 1, 158680641: 158680641
13 SPTA1 NM_003126.3(SPTA1): c.143A> G (p.Lys48Arg) single nucleotide variant Pathogenic rs121918644 GRCh37 Chromosome 1, 158655019: 158655019
14 SPTA1 NM_003126.3(SPTA1): c.143A> G (p.Lys48Arg) single nucleotide variant Pathogenic rs121918644 GRCh38 Chromosome 1, 158685229: 158685229
15 SPTA1 NM_003126.3(SPTA1): c.2373C> A (p.Asp791Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs7418956 GRCh37 Chromosome 1, 158632583: 158632583
16 SPTA1 NM_003126.3(SPTA1): c.2373C> A (p.Asp791Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs7418956 GRCh38 Chromosome 1, 158662793: 158662793
17 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS indel Pathogenic
18 SPTA1 NM_003126.3(SPTA1): c.2806-13T> G single nucleotide variant Pathogenic rs757147440 GRCh37 Chromosome 1, 158626459: 158626459
19 SPTA1 NM_003126.3(SPTA1): c.2806-13T> G single nucleotide variant Pathogenic rs757147440 GRCh38 Chromosome 1, 158656669: 158656669
20 SPTA1 NM_003126.3(SPTA1): c.3188+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 158623059: 158623059
21 SPTA1 NM_003126.3(SPTA1): c.3188+5G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 158653269: 158653269
22 SPTA1 NM_003126.3(SPTA1): c.6559A> G (p.Lys2187Glu) single nucleotide variant Likely benign rs111980420 GRCh37 Chromosome 1, 158587368: 158587368
23 SPTA1 NM_003126.3(SPTA1): c.6559A> G (p.Lys2187Glu) single nucleotide variant Likely benign rs111980420 GRCh38 Chromosome 1, 158617578: 158617578
24 SPTA1 NM_003126.3(SPTA1): c.7095A> G (p.Ala2365=) single nucleotide variant Benign/Likely benign rs2251969 GRCh37 Chromosome 1, 158582646: 158582646
25 SPTA1 NM_003126.3(SPTA1): c.7095A> G (p.Ala2365=) single nucleotide variant Benign/Likely benign rs2251969 GRCh38 Chromosome 1, 158612856: 158612856
26 SPTA1 NM_003126.3(SPTA1): c.6794T> C (p.Ile2265Thr) single nucleotide variant Benign/Likely benign rs952094 GRCh37 Chromosome 1, 158584091: 158584091
27 SPTA1 NM_003126.3(SPTA1): c.6794T> C (p.Ile2265Thr) single nucleotide variant Benign/Likely benign rs952094 GRCh38 Chromosome 1, 158614301: 158614301
28 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh37 Chromosome 1, 158585122: 158585122
29 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh38 Chromosome 1, 158615332: 158615332
30 SPTA1 NM_003126.3(SPTA1): c.6549-12G> A single nucleotide variant Benign/Likely benign rs857716 GRCh37 Chromosome 1, 158587390: 158587390
31 SPTA1 NM_003126.3(SPTA1): c.6549-12G> A single nucleotide variant Benign/Likely benign rs857716 GRCh38 Chromosome 1, 158617600: 158617600
32 SPTA1 NM_003126.3(SPTA1): c.6531-12C> T single nucleotide variant Benign/Likely benign rs28525570 GRCh37 Chromosome 1, 158587858: 158587858
33 SPTA1 NM_003126.3(SPTA1): c.6531-12C> T single nucleotide variant Benign/Likely benign rs28525570 GRCh38 Chromosome 1, 158618068: 158618068
34 SPTA1 NM_003126.3(SPTA1): c.6437A> G (p.Gln2146Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138055271 GRCh37 Chromosome 1, 158589105: 158589105
35 SPTA1 NM_003126.3(SPTA1): c.6437A> G (p.Gln2146Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138055271 GRCh38 Chromosome 1, 158619315: 158619315
36 SPTA1 NM_003126.3(SPTA1): c.6112C> T (p.Leu2038=) single nucleotide variant Benign/Likely benign rs75931146 GRCh37 Chromosome 1, 158592781: 158592781
37 SPTA1 NM_003126.3(SPTA1): c.6112C> T (p.Leu2038=) single nucleotide variant Benign/Likely benign rs75931146 GRCh38 Chromosome 1, 158622991: 158622991
38 SPTA1 NM_003126.3(SPTA1): c.6046C> T (p.Arg2016Cys) single nucleotide variant Benign/Likely benign rs78394850 GRCh37 Chromosome 1, 158592847: 158592847
39 SPTA1 NM_003126.3(SPTA1): c.6046C> T (p.Arg2016Cys) single nucleotide variant Benign/Likely benign rs78394850 GRCh38 Chromosome 1, 158623057: 158623057
40 SPTA1 NM_003126.3(SPTA1): c.5992G> C (p.Ala1998Pro) single nucleotide variant Benign/Likely benign rs77877855 GRCh37 Chromosome 1, 158592901: 158592901
41 SPTA1 NM_003126.3(SPTA1): c.5992G> C (p.Ala1998Pro) single nucleotide variant Benign/Likely benign rs77877855 GRCh38 Chromosome 1, 158623111: 158623111
42 SPTA1 NM_003126.3(SPTA1): c.5958C> T (p.Pro1986=) single nucleotide variant Benign/Likely benign rs3753068 GRCh37 Chromosome 1, 158592935: 158592935
43 SPTA1 NM_003126.3(SPTA1): c.5958C> T (p.Pro1986=) single nucleotide variant Benign/Likely benign rs3753068 GRCh38 Chromosome 1, 158623145: 158623145
44 SPTA1 NM_003126.3(SPTA1): c.5572C> G (p.Leu1858Val) single nucleotide variant Benign/Likely benign rs3737515 GRCh37 Chromosome 1, 158597507: 158597507
45 SPTA1 NM_003126.3(SPTA1): c.5572C> G (p.Leu1858Val) single nucleotide variant Benign/Likely benign rs3737515 GRCh38 Chromosome 1, 158627717: 158627717
46 SPTA1 NM_003126.3(SPTA1): c.5507A> G (p.Asn1836Ser) single nucleotide variant Benign/Likely benign rs16830483 GRCh37 Chromosome 1, 158604391: 158604391
47 SPTA1 NM_003126.3(SPTA1): c.5507A> G (p.Asn1836Ser) single nucleotide variant Benign/Likely benign rs16830483 GRCh38 Chromosome 1, 158634601: 158634601
48 SPTA1 NM_003126.3(SPTA1): c.5292C> A (p.Ala1764=) single nucleotide variant Benign/Likely benign rs3738791 GRCh37 Chromosome 1, 158606449: 158606449
49 SPTA1 NM_003126.3(SPTA1): c.5292C> A (p.Ala1764=) single nucleotide variant Benign/Likely benign rs3738791 GRCh38 Chromosome 1, 158636659: 158636659
50 SPTA1 NM_003126.3(SPTA1): c.5118C> T (p.His1706=) single nucleotide variant Conflicting interpretations of pathogenicity rs200945419 GRCh37 Chromosome 1, 158607894: 158607894

Expression for Pyropoikilocytosis, Hereditary

Search GEO for disease gene expression data for Pyropoikilocytosis, Hereditary.

Pathways for Pyropoikilocytosis, Hereditary

GO Terms for Pyropoikilocytosis, Hereditary

Cellular components related to Pyropoikilocytosis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.32 SPTA1 SPTB
2 cell cortex GO:0005938 9.26 SPTA1 SPTB
3 spectrin GO:0008091 9.16 SPTA1 SPTB
4 spectrin-associated cytoskeleton GO:0014731 8.96 SPTA1 SPTB
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 8.62 SPTA1 SPTB

Biological processes related to Pyropoikilocytosis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.26 SPTA1 SPTB
2 axon guidance GO:0007411 9.16 SPTA1 SPTB
3 ER to Golgi vesicle-mediated transport GO:0006888 8.96 SPTA1 SPTB
4 actin filament capping GO:0051693 8.62 SPTA1 SPTB

Molecular functions related to Pyropoikilocytosis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 SPTA1 SPTB
2 actin filament binding GO:0051015 9.16 SPTA1 SPTB
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 SPTA1 SPTB
4 structural constituent of cytoskeleton GO:0005200 8.62 SPTA1 SPTB

Sources for Pyropoikilocytosis, Hereditary

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