MCID: PYR040
MIFTS: 35

Pyropoikilocytosis, Hereditary

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis, Hereditary

MalaCards integrated aliases for Pyropoikilocytosis, Hereditary:

Name: Pyropoikilocytosis, Hereditary 57 55 40
Hereditary Pyropoikilocytosis 53 75 37 29 6 73
Pyropoikilocytosis 57 76 13 6
Hpp 57 75
Pyropoikilocytosis Hereditary 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pyropoikilocytosis, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 266140
MedGen 42 C0520739
KEGG 37 H01125
UMLS 73 C0520739

Summaries for Pyropoikilocytosis, Hereditary

OMIM : 57 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 hypophosphatasia. 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 : 75 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 hereditary elliptocytosis 29.3 SPTA1 SPTB
2 hypophosphatasia 11.8
3 pancreatitis 9.9
4 psoriasis 9.9
5 congenital hemolytic anemia 9.3 SPTA1 SPTB
6 hereditary spherocytosis 9.2 SPTA1 SPTB
7 hemolytic anemia 9.0 SPTA1 SPTB

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



Diseases related to Pyropoikilocytosis, Hereditary

Symptoms & Phenotypes for Pyropoikilocytosis, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Heme:
pyropoikilocytosis
hemolytic anemia
microspherocytosis
poikilocytosis
elliptocytosis

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


Clinical features from OMIM:

266140

Human phenotypes related to Pyropoikilocytosis, Hereditary:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 elliptocytosis 32 HP:0004445
3 pyropoikilocytosis 32 HP:0004839
4 microspherocytosis 32 HP:0004835

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 29 SPTA1

Anatomical Context for Pyropoikilocytosis, Hereditary

MalaCards organs/tissues related to Pyropoikilocytosis, Hereditary:

41
Testes

Publications for Pyropoikilocytosis, Hereditary

Articles related to Pyropoikilocytosis, Hereditary:

(show all 35)
# Title Authors Year
1
Targeted next generation sequencing identifies a novel I^-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis. ( 28699249 )
2017
2
Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease. ( 28863418 )
2016
3
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
4
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. ( 22882093 )
2012
5
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
6
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. ( 18815189 )
2008
7
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. ( 18492110 )
2008
8
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. ( 18454487 )
2008
9
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
10
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. ( 16150946 )
2005
11
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. ( 14687038 )
2004
12
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
13
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. ( 7795252 )
1995
14
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. ( 8364214 )
1993
15
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. ( 8418610 )
1993
16
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. ( 17590771 )
1991
17
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
18
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. ( 1845156 )
1991
19
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
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
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. ( 3167214 )
1988
22
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
23
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. ( 3604989 )
1987
24
Partial spectrin deficiency in hereditary pyropoikilocytosis. ( 3955236 )
1986
25
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. ( 3995028 )
1985
26
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. ( 6476002 )
1984
27
Identification of the hereditary pyropoikilocytosis carrier state. ( 6722357 )
1984
28
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. ( 6473460 )
1984
29
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. ( 6640107 )
1983
30
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. ( 6863544 )
1983
31
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. ( 7130392 )
1982
32
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. ( 7099765 )
1982
33
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. ( 7276161 )
1981
34
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. ( 7448405 )
1981
35
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:

75
# 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 406)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001355437.1(SPTB): c.6053C> G (p.Ala2018Gly) single nucleotide variant Pathogenic rs121918647 GRCh37 Chromosome 14, 65234547: 65234547
2 SPTB NM_001355437.1(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 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS indel Pathogenic
16 SPTA1 NM_003126.3(SPTA1): c.2806-13T> G single nucleotide variant Pathogenic rs757147440 GRCh37 Chromosome 1, 158626459: 158626459
17 SPTA1 NM_003126.3(SPTA1): c.2806-13T> G single nucleotide variant Pathogenic rs757147440 GRCh38 Chromosome 1, 158656669: 158656669
18 SPTA1 SPTA1, IVS22DS, G-A, +5 single nucleotide variant Pathogenic
19 SPTA1 NM_003126.3(SPTA1): c.6559A> G (p.Lys2187Glu) single nucleotide variant Likely benign rs111980420 GRCh37 Chromosome 1, 158587368: 158587368
20 SPTA1 NM_003126.3(SPTA1): c.6559A> G (p.Lys2187Glu) single nucleotide variant Likely benign rs111980420 GRCh38 Chromosome 1, 158617578: 158617578
21 SPTA1 NM_003126.3(SPTA1): c.7095A> G (p.Ala2365=) single nucleotide variant Benign/Likely benign rs2251969 GRCh37 Chromosome 1, 158582646: 158582646
22 SPTA1 NM_003126.3(SPTA1): c.7095A> G (p.Ala2365=) single nucleotide variant Benign/Likely benign rs2251969 GRCh38 Chromosome 1, 158612856: 158612856
23 SPTA1 NM_003126.3(SPTA1): c.6794T> C (p.Ile2265Thr) single nucleotide variant Benign/Likely benign rs952094 GRCh37 Chromosome 1, 158584091: 158584091
24 SPTA1 NM_003126.3(SPTA1): c.6794T> C (p.Ile2265Thr) single nucleotide variant Benign/Likely benign rs952094 GRCh38 Chromosome 1, 158614301: 158614301
25 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh37 Chromosome 1, 158585122: 158585122
26 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh38 Chromosome 1, 158615332: 158615332
27 SPTA1 NM_003126.3(SPTA1): c.6549-12G> A single nucleotide variant Likely benign rs857716 GRCh37 Chromosome 1, 158587390: 158587390
28 SPTA1 NM_003126.3(SPTA1): c.6549-12G> A single nucleotide variant Likely benign rs857716 GRCh38 Chromosome 1, 158617600: 158617600
29 SPTA1 NM_003126.3(SPTA1): c.6531-12C> T single nucleotide variant Likely benign rs28525570 GRCh37 Chromosome 1, 158587858: 158587858
30 SPTA1 NM_003126.3(SPTA1): c.6531-12C> T single nucleotide variant Likely benign rs28525570 GRCh38 Chromosome 1, 158618068: 158618068
31 SPTA1 NM_003126.3(SPTA1): c.6437A> G (p.Gln2146Arg) single nucleotide variant Likely benign rs138055271 GRCh37 Chromosome 1, 158589105: 158589105
32 SPTA1 NM_003126.3(SPTA1): c.6437A> G (p.Gln2146Arg) single nucleotide variant Likely benign rs138055271 GRCh38 Chromosome 1, 158619315: 158619315
33 SPTA1 NM_003126.3(SPTA1): c.6112C> T (p.Leu2038=) single nucleotide variant Likely benign rs75931146 GRCh37 Chromosome 1, 158592781: 158592781
34 SPTA1 NM_003126.3(SPTA1): c.6112C> T (p.Leu2038=) single nucleotide variant Likely benign rs75931146 GRCh38 Chromosome 1, 158622991: 158622991
35 SPTA1 NM_003126.3(SPTA1): c.6046C> T (p.Arg2016Cys) single nucleotide variant Likely benign rs78394850 GRCh37 Chromosome 1, 158592847: 158592847
36 SPTA1 NM_003126.3(SPTA1): c.6046C> T (p.Arg2016Cys) single nucleotide variant Likely benign rs78394850 GRCh38 Chromosome 1, 158623057: 158623057
37 SPTA1 NM_003126.3(SPTA1): c.5992G> C (p.Ala1998Pro) single nucleotide variant Likely benign rs77877855 GRCh37 Chromosome 1, 158592901: 158592901
38 SPTA1 NM_003126.3(SPTA1): c.5992G> C (p.Ala1998Pro) single nucleotide variant Likely benign rs77877855 GRCh38 Chromosome 1, 158623111: 158623111
39 SPTA1 NM_003126.3(SPTA1): c.5958C> T (p.Pro1986=) single nucleotide variant Benign/Likely benign rs3753068 GRCh37 Chromosome 1, 158592935: 158592935
40 SPTA1 NM_003126.3(SPTA1): c.5958C> T (p.Pro1986=) single nucleotide variant Benign/Likely benign rs3753068 GRCh38 Chromosome 1, 158623145: 158623145
41 SPTA1 NM_003126.3(SPTA1): c.5572C> G (p.Leu1858Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3737515 GRCh37 Chromosome 1, 158597507: 158597507
42 SPTA1 NM_003126.3(SPTA1): c.5572C> G (p.Leu1858Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3737515 GRCh38 Chromosome 1, 158627717: 158627717
43 SPTA1 NM_003126.3(SPTA1): c.5507A> G (p.Asn1836Ser) single nucleotide variant Likely benign rs16830483 GRCh37 Chromosome 1, 158604391: 158604391
44 SPTA1 NM_003126.3(SPTA1): c.5507A> G (p.Asn1836Ser) single nucleotide variant Likely benign rs16830483 GRCh38 Chromosome 1, 158634601: 158634601
45 SPTA1 NM_003126.3(SPTA1): c.5292C> A (p.Ala1764=) single nucleotide variant Benign/Likely benign rs3738791 GRCh37 Chromosome 1, 158606449: 158606449
46 SPTA1 NM_003126.3(SPTA1): c.5292C> A (p.Ala1764=) single nucleotide variant Benign/Likely benign rs3738791 GRCh38 Chromosome 1, 158636659: 158636659
47 SPTA1 NM_003126.3(SPTA1): c.5118C> T (p.His1706=) single nucleotide variant Uncertain significance rs200945419 GRCh37 Chromosome 1, 158607894: 158607894
48 SPTA1 NM_003126.3(SPTA1): c.5118C> T (p.His1706=) single nucleotide variant Uncertain significance rs200945419 GRCh38 Chromosome 1, 158638104: 158638104
49 SPTA1 NM_003126.3(SPTA1): c.5077A> C (p.Lys1693Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs857725 GRCh37 Chromosome 1, 158607935: 158607935
50 SPTA1 NM_003126.3(SPTA1): c.5077A> C (p.Lys1693Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs857725 GRCh38 Chromosome 1, 158638145: 158638145

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 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.16 SPTA1 SPTB
4 spectrin-associated cytoskeleton GO:0014731 8.96 SPTA1 SPTB
5 spectrin GO:0008091 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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17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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