SPH3
MCID: SPH015
MIFTS: 39

Spherocytosis, Type 3 (SPH3)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Spherocytosis, Type 3

MalaCards integrated aliases for Spherocytosis, Type 3:

Name: Spherocytosis, Type 3 57 13 39 70
Hereditary Spherocytosis Type 3 12 72 15
Sph3 57 12 72
Hs3 57 12 72
Spherocytosis Type 3 29 6
Spherocytosis, Hereditary, 3; Hs3 57
Spherocytosis, Hereditary, 3 57
Hereditary Spherocytosis 3 12
Spherocytosis 3 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
spherocytosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110918
OMIM® 57 270970
MedGen 41 C2678338
SNOMED-CT via HPO 68 17235000 258211005 61261009
UMLS 70 C2678338

Summaries for Spherocytosis, Type 3

UniProtKB/Swiss-Prot : 72 Spherocytosis 3: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.

MalaCards based summary : Spherocytosis, Type 3, also known as hereditary spherocytosis type 3, is related to acute erythroid leukemia and beta-thalassemia. An important gene associated with Spherocytosis, Type 3 is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Related phenotypes are hemolytic anemia and spherocytosis

Disease Ontology : 12 A hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1.

More information from OMIM: 270970

Related Diseases for Spherocytosis, Type 3

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

Diseases related to Spherocytosis, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 30.2 NFE2 KLF1 GATA1
2 beta-thalassemia 29.9 SPTA1 KLF1 HBE1 GATA1 BCL11A
3 dna, satellite, iii 11.1
4 elliptocytosis 2 10.3 SPTA1 OR10Z1
5 ehlers-danlos syndrome, musculocontractural type, 2 10.3 HS3ST6 HS3ST5
6 thalassemia minor 10.2 KLF1 GATA1
7 anemia, congenital dyserythropoietic, type iii 10.2 KLF1 GATA1
8 anemia, congenital dyserythropoietic, type ib 10.2 KLF1 GATA1
9 omodysplasia 10.2 HS3ST6 HS3ST5 HS2ST1
10 thrombocytopenia with beta-thalassemia, x-linked 10.2 KLF1 GATA1
11 cutaneous porphyria 10.2 KLF1 GATA1
12 anemia, congenital dyserythropoietic, type ia 10.2 KLF1 H2AC18 GATA1
13 anemia, congenital dyserythropoietic, type iv 10.1 KLF1 GATA1
14 retinitis pigmentosa 20 10.1 RPS23 H2AC18
15 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.1 HS3ST6 HS3ST5
16 blood protein disease 10.1 HBE1 H2AC18 BCL11A
17 hemoglobin e disease 10.1 KLF1 HBE1 BCL11A
18 beta-thalassemia major 10.1
19 thalassemia 10.1
20 spherocytosis, type 1 10.0 RPS3A H2AC18
21 hemoglobinopathy 9.9 KLF1 HBE1 GATA1 BCL11A
22 burkitt lymphoma 9.9
23 retinoblastoma 9.9
24 iga glomerulonephritis 9.9
25 posttransplant acute limbic encephalitis 9.9
26 spherocytosis, type 2 9.9 SPTA1 RPS3A NFE2 KLF1 GATA1
27 alpha-thalassemia 9.8 KLF1 HBE1 H2AC18 GATA1 BCL11A
28 overhydrated hereditary stomatocytosis 9.8 HS6ST1 HS3ST6 HS3ST3B1 HS3ST2 HS3ST1 HS2ST1
29 diamond-blackfan anemia 9.8 RPS3A RPS23 KLF1 GATA1
30 hypotrichosis 2 9.7 NFE2 KLF1 HS3ST1 HBE1 H2AC18 GATA1
31 deficiency anemia 9.7 SPTA1 NFE2 KLF1 HBE1 H2AC18 GATA1
32 congenital hemolytic anemia 9.7 SPTA1 RPS3A KLF1 HBE1 H2AC18 GATA1
33 spherocytosis, type 4 9.5 ZNF23 RPS3A RPS23 NFE2 KLF1 HBE1
34 hereditary spherocytosis 8.2 SPTA1 RPS3A RPS23 NFE2 KLF1 HS6ST1

Graphical network of the top 20 diseases related to Spherocytosis, Type 3:



Diseases related to Spherocytosis, Type 3

Symptoms & Phenotypes for Spherocytosis, Type 3

Human phenotypes related to Spherocytosis, Type 3:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 spherocytosis 31 HP:0004444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
severe hemolytic anemia
spherocytosis red cell membranes deficient in spectrin with band 1 reduced more than band 2
normal spectrin membrane binding and binding sites (ankyrin)

Clinical features from OMIM®:

270970 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spherocytosis, Type 3

Search Clinical Trials , NIH Clinical Center for Spherocytosis, Type 3

Genetic Tests for Spherocytosis, Type 3

Genetic tests related to Spherocytosis, Type 3:

# Genetic test Affiliating Genes
1 Spherocytosis Type 3 29 SPTA1

Anatomical Context for Spherocytosis, Type 3

Publications for Spherocytosis, Type 3

Articles related to Spherocytosis, Type 3:

(show all 19)
# Title Authors PMID Year
1
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. 57 6
8941647 1996
2
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
3
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. 6
27667160 2016
4
Chromosomal location of three spectrin genes: relationship to the inherited hemolytic anemias of mouse and man. 57
3186715 1988
5
Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. 57
3785322 1986
6
Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. 57
3982506 1985
7
Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. 57
6234993 1984
8
Hemolytic anemia in the mouse. Report of a new mutation and clarification of its genetics. 57
6841965 1983
9
Deficient red-cell spectrin in severe, recessively inherited spherocytosis. 57
7070419 1982
10
Reconstitution of spectrin-deficient, spherocytic mouse erythrocyte membranes. 57
379045 1979
11
Marked reduction of spectrinin hereditary spherocytosis in the common house mouse. 57
647119 1978
12
Hereditary spherocytosis in the deer mouse. Its similarity to the human disease. 57
13793441 1960
13
Influence of Protein Hydrolysis on the Freeze-thaw Stability of Emulsions Prepared with Soy Protein - Dextran Conjugates. 61
31511465 2019
14
Molecular mechanism of Aspergillus fumigatus biofilm disruption by fungal and bacterial glycoside hydrolases. 61
31167793 2019
15
Microbial glycoside hydrolases as antibiofilm agents with cross-kingdom activity. 61
28634301 2017
16
Sph3 Is a Glycoside Hydrolase Required for the Biosynthesis of Galactosaminogalactan in Aspergillus fumigatus. 61
26342082 2015
17
Structural analysis of the Leptospiral sphingomyelinases: in silico and experimental evaluation of Sph2 as an Mg-dependent sphingomyelinase. 61
22441407 2012
18
Leptospiral hemolysins induce proinflammatory cytokines through Toll-like receptor 2-and 4-mediated JNK and NF-κB signaling pathways. 61
22870312 2012
19
Immunobiochemical evidence for the loss of sperm specific histones during male pronucleus formation in monospermic zygotes of sea urchins. 61
1939362 1991

Variations for Spherocytosis, Type 3

ClinVar genetic disease variations for Spherocytosis, Type 3:

6 (show top 50) (show all 258)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTA1 NM_003126.2(SPTA1):c.5190_5310del SNV Pathogenic 12863 rs754614154 GRCh37: 1:158606553-158606553
GRCh38: 1:158636763-158636763
2 SPTA1 SPTA1, IVS30, C-T, -99 SNV Pathogenic 12864 GRCh37:
GRCh38:
3 SPTA1 NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) Duplication Pathogenic 496724 rs1553234309 GRCh37: 1:158637835-158637836
GRCh38: 1:158668045-158668046
4 SPTA1 NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) SNV Pathogenic 931603 GRCh37: 1:158632636-158632636
GRCh38: 1:158662846-158662846
5 SPTA1 GRCh37/hg19 1q23.1(chr1:158655335-158667812) copy number loss Pathogenic 915962 GRCh37: 1:158655335-158667812
GRCh38:
6 SPTA1 NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) Deletion Pathogenic 1033567 GRCh37: 1:158614992-158614992
GRCh38: 1:158645202-158645202
7 SPTA1 NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) SNV Likely pathogenic 544822 rs1553232007 GRCh37: 1:158626354-158626354
GRCh38: 1:158656564-158656564
8 SPTA1 NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp) SNV Likely pathogenic 800906 rs377659326 GRCh37: 1:158606478-158606478
GRCh38: 1:158636688-158636688
9 SPTA1 NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) SNV Conflicting interpretations of pathogenicity 544821 rs41273519 GRCh37: 1:158589121-158589121
GRCh38: 1:158619331-158619331
10 SPTA1 NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) SNV Uncertain significance 873678 GRCh37: 1:158624466-158624466
GRCh38: 1:158654676-158654676
11 SPTA1 NM_003126.4(SPTA1):c.2899-10T>A SNV Uncertain significance 873679 GRCh37: 1:158624548-158624548
GRCh38: 1:158654758-158654758
12 SPTA1 NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val) SNV Uncertain significance 873753 GRCh37: 1:158627460-158627460
GRCh38: 1:158657670-158657670
13 SPTA1 NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) SNV Uncertain significance 811061 rs140291959 GRCh37: 1:158627464-158627464
GRCh38: 1:158657674-158657674
14 SPTA1 NM_003126.4(SPTA1):c.2464+13T>G SNV Uncertain significance 873803 GRCh37: 1:158632479-158632479
GRCh38: 1:158662689-158662689
15 SPTA1 NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met) SNV Uncertain significance 873857 GRCh37: 1:158632711-158632711
GRCh38: 1:158662921-158662921
16 SPTA1 NM_003126.4(SPTA1):c.2187C>G (p.His729Gln) SNV Uncertain significance 873858 GRCh37: 1:158636139-158636139
GRCh38: 1:158666349-158666349
17 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*509G>T SNV Uncertain significance 873911 GRCh37: 1:158580545-158580545
GRCh38: 1:158610755-158610755
18 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*420T>A SNV Uncertain significance 873912 GRCh37: 1:158580634-158580634
GRCh38: 1:158610844-158610844
19 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*387T>C SNV Uncertain significance 873913 GRCh37: 1:158580667-158580667
GRCh38: 1:158610877-158610877
20 SPTA1 NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala) SNV Uncertain significance 874035 GRCh37: 1:158644139-158644139
GRCh38: 1:158674349-158674349
21 SPTA1 NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=) SNV Uncertain significance 874036 GRCh37: 1:158644203-158644203
GRCh38: 1:158674413-158674413
22 SPTA1 NM_003126.4(SPTA1):c.749G>A (p.Arg250His) SNV Uncertain significance 874146 GRCh37: 1:158648254-158648254
GRCh38: 1:158678464-158678464
23 SPTA1 NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) SNV Uncertain significance 874199 GRCh37: 1:158592846-158592846
GRCh38: 1:158623056-158623056
24 SPTA1 NM_003126.4(SPTA1):c.5311-4T>A SNV Uncertain significance 874308 GRCh37: 1:158605828-158605828
GRCh38: 1:158636038-158636038
25 SPTA1 NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe) SNV Uncertain significance 874368 GRCh37: 1:158609416-158609416
GRCh38: 1:158639626-158639626
26 SPTA1 NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) SNV Uncertain significance 874462 GRCh37: 1:158614141-158614141
GRCh38: 1:158644351-158644351
27 SPTA1 NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp) SNV Uncertain significance 874463 GRCh37: 1:158614157-158614157
GRCh38: 1:158644367-158644367
28 SPTA1 NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) SNV Uncertain significance 258933 rs186415745 GRCh37: 1:158615321-158615321
GRCh38: 1:158645531-158645531
29 SPTA1 NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp) SNV Uncertain significance 873680 GRCh37: 1:158626377-158626377
GRCh38: 1:158656587-158656587
30 SPTA1 NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) SNV Uncertain significance 874706 GRCh37: 1:158627472-158627472
GRCh38: 1:158657682-158657682
31 SPTA1 NM_003126.4(SPTA1):c.2588-3T>C SNV Uncertain significance 874707 GRCh37: 1:158627487-158627487
GRCh38: 1:158657697-158657697
32 SPTA1 NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser) SNV Uncertain significance 874810 GRCh37: 1:158636225-158636225
GRCh38: 1:158666435-158666435
33 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*379G>A SNV Uncertain significance 874857 GRCh37: 1:158580675-158580675
GRCh38: 1:158610885-158610885
34 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*341T>G SNV Uncertain significance 874858 GRCh37: 1:158580713-158580713
GRCh38: 1:158610923-158610923
35 SPTA1 NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) SNV Uncertain significance 618384 rs200829664 GRCh37: 1:158639328-158639328
GRCh38: 1:158669538-158669538
36 SPTA1 NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser) SNV Uncertain significance 874909 GRCh37: 1:158641243-158641243
GRCh38: 1:158671453-158671453
37 SPTA1 NM_003126.4(SPTA1):c.6989+8C>A SNV Uncertain significance 874966 GRCh37: 1:158583503-158583503
GRCh38: 1:158613713-158613713
38 SPTA1 NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) SNV Uncertain significance 709190 rs111834376 GRCh37: 1:158644397-158644397
GRCh38: 1:158674607-158674607
39 SPTA1 NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) SNV Uncertain significance 874967 GRCh37: 1:158644403-158644403
GRCh38: 1:158674613-158674613
40 SPTA1 NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=) SNV Uncertain significance 875023 GRCh37: 1:158585173-158585173
GRCh38: 1:158615383-158615383
41 SPTA1 NM_003126.4(SPTA1):c.6601-10G>A SNV Uncertain significance 875024 GRCh37: 1:158585203-158585203
GRCh38: 1:158615413-158615413
42 SPTA1 NM_003126.4(SPTA1):c.6372G>A (p.Val2124=) SNV Uncertain significance 875076 GRCh37: 1:158590005-158590005
GRCh38: 1:158620215-158620215
43 SPTA1 NM_003126.4(SPTA1):c.410G>A (p.Arg137His) SNV Uncertain significance 874200 GRCh37: 1:158651438-158651438
GRCh38: 1:158681648-158681648
44 SPTA1 NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) SNV Uncertain significance 875178 GRCh37: 1:158655115-158655115
GRCh38: 1:158685325-158685325
45 SPTA1 NM_003126.4(SPTA1):c.4875+12C>T SNV Uncertain significance 875288 GRCh37: 1:158609648-158609648
GRCh38: 1:158639858-158639858
46 SPTA1 NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) SNV Uncertain significance 875289 GRCh37: 1:158609673-158609673
GRCh38: 1:158639883-158639883
47 SPTA1 NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) SNV Uncertain significance 741541 rs143779235 GRCh37: 1:158612618-158612618
GRCh38: 1:158642828-158642828
48 SPTA1 NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn) SNV Uncertain significance 875549 GRCh37: 1:158623143-158623143
GRCh38: 1:158653353-158653353
49 SPTA1 NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser) SNV Uncertain significance 875600 GRCh37: 1:158626406-158626406
GRCh38: 1:158656616-158656616
50 SPTA1 NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val) SNV Uncertain significance 875701 GRCh37: 1:158632591-158632591
GRCh38: 1:158662801-158662801

Expression for Spherocytosis, Type 3

Search GEO for disease gene expression data for Spherocytosis, Type 3.

Pathways for Spherocytosis, Type 3

Pathways related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 RPS3A RPS23 HS6ST1 HS3ST6 HS3ST5 HS3ST4
2
Show member pathways
12.87 HS6ST1 HS3ST6 HS3ST4 HS3ST3B1 HS3ST3A1 HS3ST2
3
Show member pathways
12.36 HS6ST1 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1
4 11.78 NFE2 HBE1 GATA1
5 11.18 NFE2 KLF1 GATA1
6
Show member pathways
11.06 HS6ST1 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1 HS3ST2
7 11.01 HS6ST1 HS3ST4 HS3ST1 HS2ST1

GO Terms for Spherocytosis, Type 3

Cellular components related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.56 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1 HS3ST2
2 Golgi membrane GO:0000139 9.23 HS6ST1 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1

Biological processes related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan biosynthetic process, enzymatic modification GO:0015015 9.26 HS6ST1 HS3ST5 HS3ST3B1 HS2ST1
2 glycosaminoglycan biosynthetic process GO:0006024 9.23 HS6ST1 HS3ST6 HS3ST5 HS3ST3B1 HS3ST3A1 HS3ST2
3 protein sulfation GO:0006477 9.16 HS3ST5 HS3ST3B1

Molecular functions related to Spherocytosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 HS6ST1 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1
2 proximal promoter sequence-specific DNA binding GO:0000987 9.5 NFE2 KLF1 GATA1
3 [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity GO:0008467 9.5 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1 HS3ST2
4 sulfotransferase activity GO:0008146 9.28 HS6ST1 HS3ST6 HS3ST5 HS3ST4 HS3ST3B1 HS3ST3A1
5 [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity GO:0033872 9.16 HS3ST3B1 HS3ST3A1

Sources for Spherocytosis, Type 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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