HPP
MCID: PYR040
MIFTS: 40

Pyropoikilocytosis, Hereditary (HPP)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis, Hereditary

MalaCards integrated aliases for Pyropoikilocytosis, Hereditary:

Name: Pyropoikilocytosis, Hereditary 57 54 39
Hereditary Pyropoikilocytosis 20 72 36 29 6 70
Pyropoikilocytosis 57 73 13 6
Hpp 57 72
Pyropoikilocytosis Hereditary 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
pyropoikilocytosis, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 266140
KEGG 36 H01125
MedGen 41 C0520739
UMLS 70 C0520739

Summaries for Pyropoikilocytosis, Hereditary

KEGG : 36 Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP patients exhibit qualitative and quantitative abnormalities of the erythrocyte membrane protein spectrin, the principal structural component of the erythrocyte membrane skeleton. Qualitative spectrin defects are typically associated with missense mutations that lead to abnormal spectrin self-association, a process critical for membrane structure and function.

MalaCards based summary : Pyropoikilocytosis, Hereditary, also known as hereditary pyropoikilocytosis, is related to hemolytic anemia 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 bone, lung and bone marrow, and related phenotypes are hemolytic anemia and elliptocytosis

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia : 73 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis, Hereditary

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:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 elliptocytosis 31 HP:0004445
3 microspherocytosis 31 HP:0004835
4 pyropoikilocytosis 31 HP:0004839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Heme:
hemolytic anemia
elliptocytosis
poikilocytosis
microspherocytosis
pyropoikilocytosis

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

Clinical features from OMIM®:

266140 (Updated 20-May-2021)

Drugs & Therapeutics for Pyropoikilocytosis, Hereditary

Search Clinical Trials , 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:

40
Bone, Lung, Bone Marrow

Publications for Pyropoikilocytosis, Hereditary

Articles related to Pyropoikilocytosis, Hereditary:

(show top 50) (show all 112)
# Title Authors PMID Year
1
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. 57 6 61
16150946 2005
2
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. 57 6 61
1541680 1992
3
A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. 6 57
1191563 1975
4
Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin. 6 61
8435324 1993
5
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. 61 6
1845156 1991
6
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. 6 61
2328319 1990
7
Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant. 61 6
2346729 1990
8
Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. 6 61
2568862 1989
9
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. 61 57
3692477 1987
10
Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis. 6 61
3708157 1986
11
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. 61 57
6476002 1984
12
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. 61 57
6863544 1983
13
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. 57 61
7130392 1982
14
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. 57 61
7099765 1982
15
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. 57 61
7276161 1981
16
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. 61 57
7448405 1981
17
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. 57 61
447859 1979
18
Disorders of red cell membrane. 57
18341630 2008
19
SVA elements are nonautonomous retrotransposons that cause disease in humans. 6
14628287 2003
20
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. 6
9746802 1998
21
Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia. 6
9192783 1997
22
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. 6
8857939 1996
23
A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. 6
8040317 1994
24
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. 6
8132574 1994
25
Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 57
8226774 1993
26
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. 6
8444470 1993
27
Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. 6
1679439 1991
28
Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. 6
2043465 1991
29
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. 6
2567189 1989
30
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. 6
4077050 1985
31
Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis. 6
6236232 1984
32
Spectrin tetramer-dimer equilibrium in hereditary elliptocytosis. 6
7074218 1982
33
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. 61 54
17192394 2007
34
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. 61
32287101 2021
35
Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations. 61
33556202 2021
36
Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis. 61
32623341 2020
37
Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. 61
32636758 2020
38
Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report. 61
31080003 2020
39
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019
40
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. 61
30198572 2019
41
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. 61
31038472 2019
42
Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes. 61
30035308 2018
43
Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis. 61
28699249 2017
44
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. 61
27667160 2016
45
Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease. 61
28863418 2016
46
A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY. 61
26986859 2016
47
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. 61
26557672 2015
48
Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects. 61
24077844 2013
49
The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. 61
23974198 2013
50
Hereditary red cell membrane disorders and laboratory diagnostic testing. 61
23480868 2013

Variations for Pyropoikilocytosis, Hereditary

ClinVar genetic disease variations for Pyropoikilocytosis, Hereditary:

6 (show top 50) (show all 289)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTA1 NM_003126.4(SPTA1):c.2806-13T>G SNV Pathogenic 12862 rs757147440 GRCh37: 1:158626459-158626459
GRCh38: 1:158656669-158656669
2 SPTA1 NM_003126.4(SPTA1):c.3188+5G>A SNV Pathogenic 12865 rs1557961718 GRCh37: 1:158623059-158623059
GRCh38: 1:158653269-158653269
3 SPTA1 NM_003126.4(SPTA1):c.1833+1G>A SNV Pathogenic 801565 rs1035389616 GRCh37: 1:158639197-158639197
GRCh38: 1:158669407-158669407
4 SPTB NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) SNV Pathogenic 12836 rs121918647 GRCh37: 14:65234547-65234547
GRCh38: 14:64767829-64767829
5 SPTA1 NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) SNV Pathogenic 12849 rs121918637 GRCh37: 1:158655027-158655027
GRCh38: 1:158685237-158685237
6 SPTA1 NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) SNV Pathogenic 12854 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
7 SPTA1 NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) SNV Pathogenic 12855 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
8 SPTA1 NM_003126.4(SPTA1):c.83G>A (p.Arg28His) SNV Pathogenic 12856 rs121918641 GRCh37: 1:158655079-158655079
GRCh38: 1:158685289-158685289
9 SPTA1 NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) SNV Pathogenic 12857 rs121918643 GRCh37: 1:158650431-158650431
GRCh38: 1:158680641-158680641
10 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS Indel Pathogenic 12861 GRCh37:
GRCh38:
11 SPTA1 NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) SNV Pathogenic 12858 rs121918644 GRCh37: 1:158655019-158655019
GRCh38: 1:158685229-158685229
12 SPTA1 NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter) SNV Pathogenic 561993 rs1394141324 GRCh37: 1:158609377-158609377
GRCh38: 1:158639587-158639587
13 SPTA1 NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) Duplication Pathogenic 12847 rs757679761 GRCh37: 1:158651385-158651386
GRCh38: 1:158681595-158681596
14 SPTA1 NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter) SNV Likely pathogenic 801566 rs1571530070 GRCh37: 1:158650481-158650481
GRCh38: 1:158680691-158680691
15 SPTA1 NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp) SNV Likely pathogenic 801564 rs752114200 GRCh37: 1:158589960-158589960
GRCh38: 1:158620170-158620170
16 SPTA1 NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) SNV Uncertain significance 258956 rs142775522 GRCh37: 1:158585122-158585122
GRCh38: 1:158615332-158615332
17 SPTA1 NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) SNV Uncertain significance 293013 rs753103122 GRCh37: 1:158631180-158631180
GRCh38: 1:158661390-158661390
18 SPTA1 NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) SNV Uncertain significance 293049 rs187932146 GRCh37: 1:158648228-158648228
GRCh38: 1:158678438-158678438
19 SPTA1 NM_003126.4(SPTA1):c.6843-8T>C SNV Uncertain significance 292944 rs766464890 GRCh37: 1:158583665-158583665
GRCh38: 1:158613875-158613875
20 SPTA1 NM_003126.4(SPTA1):c.345G>A (p.Arg115=) SNV Uncertain significance 293055 rs200343758 GRCh37: 1:158653206-158653206
GRCh38: 1:158683416-158683416
21 SPTA1 NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) SNV Uncertain significance 292983 rs201910178 GRCh37: 1:158612645-158612645
GRCh38: 1:158642855-158642855
22 SPTA1 NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) SNV Uncertain significance 292953 rs141823269 GRCh37: 1:158589999-158589999
GRCh38: 1:158620209-158620209
23 SPTA1 NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) SNV Uncertain significance 293056 rs369988146 GRCh37: 1:158654919-158654919
GRCh38: 1:158685129-158685129
24 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*323T>C SNV Uncertain significance 292918 rs867404163 GRCh37: 1:158580731-158580731
GRCh38: 1:158610941-158610941
25 SPTA1 NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) SNV Uncertain significance 292973 rs200938874 GRCh37: 1:158605757-158605757
GRCh38: 1:158635967-158635967
26 SPTA1 NM_003126.4(SPTA1):c.3188+8C>G SNV Uncertain significance 292997 rs199558386 GRCh37: 1:158623056-158623056
GRCh38: 1:158653266-158653266
27 SPTA1 NM_003126.4(SPTA1):c.5834-15G>A SNV Uncertain significance 292962 rs192889943 GRCh37: 1:158596027-158596027
GRCh38: 1:158626237-158626237
28 SPTA1 NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) SNV Uncertain significance 292937 rs78598639 GRCh37: 1:158582673-158582673
GRCh38: 1:158612883-158612883
29 SPTA1 NM_003126.4(SPTA1):c.3189-10C>T SNV Uncertain significance 292996 rs769083223 GRCh37: 1:158622453-158622453
GRCh38: 1:158652663-158652663
30 SPTA1 NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=) SNV Uncertain significance 293004 rs747751954 GRCh37: 1:158623180-158623180
GRCh38: 1:158653390-158653390
31 SPTA1 NM_003126.4(SPTA1):c.5911-3C>T SNV Uncertain significance 292960 rs886045380 GRCh37: 1:158592985-158592985
GRCh38: 1:158623195-158623195
32 SPTA1 NM_003126.4(SPTA1):c.2039-15T>C SNV Uncertain significance 293022 rs886045388 GRCh37: 1:158636302-158636302
GRCh38: 1:158666512-158666512
33 SPTA1 NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) SNV Uncertain significance 293050 rs199598260 GRCh37: 1:158648324-158648324
GRCh38: 1:158678534-158678534
34 SPTA1 NM_003126.4(SPTA1):c.1350+13A>G SNV Uncertain significance 293041 rs746352918 GRCh37: 1:158644106-158644106
GRCh38: 1:158674316-158674316
35 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*133C>T SNV Uncertain significance 292925 rs868674912 GRCh37: 1:158580921-158580921
GRCh38: 1:158611131-158611131
36 SPTA1 NM_003126.4(SPTA1):c.812+7A>T SNV Uncertain significance 293046 rs186595817 GRCh37: 1:158648184-158648184
GRCh38: 1:158678394-158678394
37 SPTA1 NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu) SNV Uncertain significance 293018 rs772872696 GRCh37: 1:158632633-158632633
GRCh38: 1:158662843-158662843
38 SPTA1 NM_003126.4(SPTA1):c.679-5A>C SNV Uncertain significance 293051 rs772845211 GRCh37: 1:158648329-158648329
GRCh38: 1:158678539-158678539
39 SPTA1 NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) SNV Uncertain significance 292989 rs200890386 GRCh37: 1:158617386-158617386
GRCh38: 1:158647596-158647596
40 SPTA1 NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) SNV Uncertain significance 293024 rs201845149 GRCh37: 1:158637704-158637704
GRCh38: 1:158667914-158667914
41 SPTA1 NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) SNV Uncertain significance 292979 rs369714529 GRCh37: 1:158609433-158609433
GRCh38: 1:158639643-158639643
42 SPTA1 NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) SNV Uncertain significance 292990 rs143642542 GRCh37: 1:158617396-158617396
GRCh38: 1:158647606-158647606
43 SPTA1 NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) SNV Uncertain significance 258915 rs34133563 GRCh37: 1:158645965-158645965
GRCh38: 1:158676175-158676175
44 SPTA1 NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) SNV Uncertain significance 292955 rs757836340 GRCh37: 1:158590144-158590144
GRCh38: 1:158620354-158620354
45 SPTA1 NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) SNV Uncertain significance 292940 rs375016862 GRCh37: 1:158583611-158583611
GRCh38: 1:158613821-158613821
46 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*294A>G SNV Uncertain significance 292921 rs886045378 GRCh37: 1:158580760-158580760
GRCh38: 1:158610970-158610970
47 SPTA1 NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) SNV Uncertain significance 293045 rs150007668 GRCh37: 1:158647584-158647584
GRCh38: 1:158677794-158677794
48 SPTA1 NM_003126.4(SPTA1):c.5433-13C>A SNV Uncertain significance 292970 rs770095010 GRCh37: 1:158604478-158604478
GRCh38: 1:158634688-158634688
49 SPTA1 NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) SNV Uncertain significance 293031 rs561401543 GRCh37: 1:158639333-158639333
GRCh38: 1:158669543-158669543
50 SPTA1 NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser) SNV Uncertain significance 292954 rs182897201 GRCh37: 1:158590018-158590018
GRCh38: 1:158620228-158620228

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

72
# Symbol AA change Variation ID SNP ID
1 SPTA1 p.Lys48Arg VAR_001335 rs121918644
2 SPTA1 p.Leu207Pro VAR_001339 rs121918643

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 SPTB SPTA1
2 cell cortex GO:0005938 9.26 SPTB SPTA1
3 spectrin GO:0008091 9.16 SPTB SPTA1
4 spectrin-associated cytoskeleton GO:0014731 8.96 SPTB SPTA1
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 8.62 SPTB SPTA1

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 SPTB SPTA1
2 axon guidance GO:0007411 9.16 SPTB SPTA1
3 ER to Golgi vesicle-mediated transport GO:0006888 8.96 SPTB SPTA1
4 actin filament capping GO:0051693 8.62 SPTB SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.16 SPTB SPTA1
2 actin filament binding GO:0051015 8.96 SPTB SPTA1
3 structural constituent of cytoskeleton GO:0005200 8.62 SPTB SPTA1

Sources for Pyropoikilocytosis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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