Hereditary Elliptocytosis malady

NIH Rare Diseases: Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.³⁰

MalaCards: Hereditary Elliptocytosis, also known as ovalocytosis, is related to pyropoikilocytosis and renal tubular acidosis. An important gene associated with Hereditary Elliptocytosis is SPTB (spectrin, beta, erythrocytic), and among its related pathways is O2/CO2 exchange in erythrocytes. The compounds phosphatidylserine and amtb have been mentioned in the context of this disorder. Affiliated tissues include spleen and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Wikipedia: Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an...⁴⁴ more...

Aliases & Descriptions:

hereditary elliptocytosis 6 30 8 ovalocytosis 6 33 congenital elliptocytosis (disorder) 6

elliptocytosis, hereditary 43 elliptocytosis hereditary 32

Diseases related to hereditary elliptocytosis by text searches and GeneDecks gene sharing:

(show all 41)

id	Related Disease	Score	Top Affiliating Genes
1	pyropoikilocytosis	32.2	SPTA1, SPTB, EPB41
2	renal tubular acidosis	31.3	OSGEP, SLC4A1, SLC4A2
3	pyropoikilocytosis hereditary	29.8	SPTA1, SPTB
4	hereditary spherocytosis	28.6	EPB42, ADD2, SLC4A1, G6PD, ANK1, SPTA1
5	hemoglobinopathy	28.4	HP, G6PD
6	elliptocytosis	28.2	CD5L, GYPC, ANK1, HP, SPTA1, EPB42
7	malaria, resistance to	27.5	GYPC, SLC4A1
8	spherocytosis	26.1	SLC4A1, ADD2, ADD3, EPB41, EPB42, G6PD
9	malaria	24.1	EPB41, SLC4A1, OSGEP, G6PD, RHD, SPTB
10	anemia	22.8	EPB42, EPB41, ADD2, SLC4A1, G6PD, RHD
11	endolymphatic hydrops	13.0	ADD3, ADD2
12	congenital dyserythropoietic anemia	12.9	SLC4A1, RHD
13	plasmodium vivax malaria	12.8	DARC, G6PD
14	acanthocytosis	12.8	SLC4A1, RHD
15	neonatal jaundice	12.8	G6PD, RHD
16	beta thalassemia	12.7	G6PD, RHD, SPTB
17	blackwater fever	12.7	HP, G6PD
18	fetal erythroblastosis	12.6	G6PD, RHD, DARC
19	favism	12.6	HP, G6PD
20	kernicterus	12.6	RHD, G6PD
21	hydrops fetalis	12.6	G6PD, RHD, SPTB, SPTA1
22	glucosephosphate dehydrogenase deficiency	12.6	HP, G6PD
23	congenital hemolytic anemia	12.5	G6PD, SPTB, HP
24	dyserythropoietic anemia with thrombocytopenia	12.4	HP, SPTB, RHD, EPB42
25	paroxysmal nocturnal hemoglobinuria	12.4	HP, G6PD
26	methemoglobinemia	12.3	HP, G6PD
27	priapism	12.3	HP, G6PD, SLC4A1
28	bilirubin metabolic disorder	12.0	HP, G6PD
29	essential hypertension	11.9	ADD3, ADD2, RHD, SPTB, HP
30	autoimmune hemolytic anemia	11.9	SLC4A1, G6PD, RHD, HP
31	jaundice	11.9	G6PD, RHD, HP
32	thalassemia	11.5	SLC4A1, G6PD, RHD, SPTB, SPTA1, HP
33	hemolytic anemia	11.0	SLC4A1, G6PD, RHD, RHAG, SPTB, HP
34	sickle cell disease	10.9	EPB41, SLC4A1, G6PD, RHD, DARC, HP
35	hypertension	10.7	ADD3, ADD2, SLC4A1, G6PD, RHD, SPTB
36	thrombosis	6.5
37	ovalocytosis, southeast asian	6.4
38	retinitis	5.5
39	cerebritis	5.5
40	cerebral malaria	5.5
41	dyserythropoietic anemia	5.5

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hereditary elliptocytosis:

²²

MGI Mouse Phenotypes related to hereditary elliptocytosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	8.5	ADD2, SPTB, SPTA1, HP, ANK1, EPB41
2	renal/urinary system phenotype	MP:0005367	8.0	EPB41, ADD2, SLC4A1, SPTB, SPTA1, HP
3	immune system phenotype	MP:0005387	7.2	EPB42, EPB41, ADD2, SLC4A1, SPTB, SPTA1
4	cardiovascular system phenotype	MP:0005385	7.1	ADD3, ADD2, SLC4A1, G6PD, SPTB, SPTA1
5	hematopoietic system phenotype	MP:0005397	6.2	CD5L, EPB42, EPB41, ADD3, ADD2, SLC4A1
6	homeostasis/metabolism phenotype	MP:0005376	6.1	SLC4A1, SLC4A2, ADD2, EPB41, EPB42, G6PD

Articles related to hereditary elliptocytosis:

(show all 29)

id	Title	Authors	Year	Affiliating Genes
1	Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R C oimbra variant of hereditary elliptocytosis. (20863723)	MoriniA"re M.... Baklouti F.	2010	EPB41
2	Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. (15757247)	Dash S.	2004	G6PD
3	Hereditary elliptocytosis: spectrin and protein 4.1R. (15071791)	Gallagher P.G.	2004	EPB41
4	Erythrocyte membrane proteins in healthy Saudis and p atients with hereditary spherocytosis and hereditary elliptocytosis. (16985305)	Al Khairy K.S.... Oluboyede O.A.	2003	RHD
5	Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. (11154235)	Wandersee N.J.... Barker J.E.	2001	SPTB
6	Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. (10845937)	Muro A.F.... Baralle F.E.	2000	ADD2, ADD3
7	Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. (9576854)	Nicolas G.... Lecomte M.C.	1998	SPTB
8	Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. (9163587)	Qualtieri A.... Brancati C.	1997	SPTA1, SPTB
9	Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144)	Pranke P.H.... Saad S.T.	1996	SPTB
10	Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)	Gallagher P.G.... Forget B.G.	1996	SPTA1
11	Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349)	Delaunay J.... Wilmotte R.	1996	ANK1, SPTA1, SPTB
12	Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207)	Maillet P.... Delaunay J.	1996	SPTA1, SPTB
13	Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. (8857939)	Glele-Kakai C.... Dhermy D.	1996	SPTA1
14	Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. (8018926)	Parquet N.... Garbarz M.	1994	SPTA1, SPTB
15	A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. (8040317)	Hassoun H.... Palek J.	1994	SPTA1
16	An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. (8423235)	Conboy J.G.... Mohandas N.	1993	EPB41
17	Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. (1498324)	Garbarz M.... Dhermy D.	1992	SPTB
18	Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. (1430200)	Dalla Venezia N.... Delaunay J.	1992	EPB41
19	Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child (1635163)	Iyori H.... Yamada O.	1992	HP, SPTB
20	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)	Gallagher P.G.... Forget B.G.	1992	SPTA1
21	A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. (1840591)	Gallagher P.G.... Forget B.G.	1991	SPTB
22	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)	Floyd P.B.... Forget B.G.	1991	SPTA1
23	Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. (1679439)	Coetzer T.L.... Palek J.	1991	SPTA1
24	Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. (2056132)	Garbarz M.... Forget B.G.	1991	SPTA1, SPTB
25	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)	Coetzer T.... Schewitz G.	1990	SPTA1, SPTB
26	Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. (1975598)	Tse W.T.... Forget B.G.	1990	SPTB
27	Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. (2794061)	Sahr K.E.... Forget B.G.	1989	SPTA1
28	Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. (3597773)	Marchesi S.L.... Gulati G.	1987	SPTA1
29	Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)	Tchernia G.... Shohet S.B.	1981	EPB41

Genes related to hereditary elliptocytosis according to GeneCards:

(show all 18)

id	Symbol	Description	Score	GeneCards Section Context
1	SPTB	spectrin, beta, erythrocytic	11.1	Summaries, Publications
2	SPTA1	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	11.0	Publications
3	OSGEP	O-sialoglycoprotein endopeptidase	11.0
4	CD5L	CD5 molecule-like	11.0
5	EPB42	erythrocyte membrane protein band 4.2	11.0
6	SLC4A2	solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)	11.0
7	EPB41	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	11.0	Publications
8	RHAG	Rh-associated glycoprotein	11.0
9	RHD	Rh blood group, D antigen	11.0	Publications
10	ADD2	adducin 2 (beta)	11.0	Publications
11	ADD3	adducin 3 (gamma)	11.0	Publications
12	DARC	Duffy blood group, chemokine receptor	11.0
13	SLC4A1	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	11.0
14	ANK1	ankyrin 1, erythrocytic	11.0	Publications
15	HP	haptoglobin	11.0	Publications
16	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
17	EPB41L3	erythrocyte membrane protein band 4.1-like 3	11.0
18	GYPC	glycophorin C (Gerbich blood group)	11.0

Pathways related to hereditary elliptocytosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	O2/CO2 exchange in erythrocytes38	9.8	RHAG, SLC4A1

Compounds related to hereditary elliptocytosis according to GeneDecks:

(show all 17)

id	Compound	Score	Top Affiliating Genes
1	phosphatidylserine32 9 9	12.2	ANK1
2	amtb32	10.1	RHAG, RHD
3	methylammonium32	10.1	RHAG, RHD
4	stilbene32	10.0	SLC4A2, SLC4A1
5	naoh32	9.9	RHD, SLC4A1
6	ammonium32	9.9	RHAG, RHD, SLC4A2
7	dids32	9.8	RHD, SLC4A1, SLC4A2
8	oxalate32	9.8	RHD, SLC4A1
9	bicarbonate32	9.5	SLC4A2, SLC4A1, RHD, RHAG
10	mefloquine32 9 9	11.5	RHD, G6PD
11	thiobarbituric acid32	9.4	G6PD, HP
12	23-diphosphoglycerate32	9.4	G6PD, HP
13	zinc protoporphyrin32	9.0	HP, G6PD
14	sodium32 18	9.5	ADD2, SLC4A2, SLC4A1, SPTB, HP, GYPC
15	glyceraldehyde 3-phosphate32	8.1	GYPC, SLC4A2, SLC4A1, G6PD, RHD, SPTB
16	atp32	7.8	SLC4A2, SLC4A1, G6PD, RHD, HP, GYPC
17	lipid32	7.1	SLC4A1, G6PD, RHD, RHAG, SPTB, DARC

Cellular components related to hereditary elliptocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	spectrin	GO:008091	9.8	EPB41, SPTB, SPTA1
2	intrinsic to internal side of plasma membrane	GO:031235	9.8	SPTB, SPTA1
3	spectrin-associated cytoskeleton	GO:014731	9.5	ANK1, SPTA1, SPTB, EPB41
4	cortical cytoskeleton	GO:030863	8.9	GYPC, ANK1, SLC4A1, EPB41
5	cytoskeleton	GO:005856	8.6	ANK1, ADD3, EPB41L3, EPB42
6	plasma membrane	GO:005886	6.1	EPB42, EPB41L3, EPB41, ADD3, ADD2, SLC4A2

Biological processes related to hereditary elliptocytosis according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane organization	GO:007009	10.1	SPTA1, SPTB
2	actin filament capping	GO:051693	10.0	SPTB, SPTA1
3	cellular ion homeostasis	GO:006873	10.0	RHAG, SLC4A1
4	anion transport	GO:006820	9.9	SLC4A1, SLC4A2
5	hemopoiesis	GO:030097	9.9	ADD2, SPTB, SPTA1
6	positive regulation of protein binding	GO:032092	9.9	EPB41, ADD2, SPTA1
7	porphyrin-containing compound biosynthetic process	GO:006779	9.8	ANK1, SPTA1, SPTB
8	bicarbonate transport	GO:015701	9.8	RHAG, SLC4A1, SLC4A2
9	erythrocyte maturation	GO:043249	9.6	G6PD, EPB42
10	ion transport	GO:006811	9.5	SLC4A1, SLC4A2, ADD2
11	cortical actin cytoskeleton organization	GO:030866	9.1	EPB41L3, EPB41

Molecular functions related to hereditary elliptocytosis according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	chloride transmembrane transporter activity	GO:015108	9.8	SLC4A2, SLC4A1
2	inorganic anion exchanger activity	GO:005452	9.8	SLC4A1, SLC4A2
3	anion transmembrane transporter activity	GO:008509	9.7	SLC4A2, SLC4A1
4	ankyrin binding	GO:030506	9.6	SPTB, RHAG, SLC4A1
5	spectrin binding	GO:030507	9.5	EPB41, ADD2, ANK1
6	actin filament binding	GO:051015	9.4	SPTA1, SPTB, ADD2
7	structural constituent of cytoskeleton	GO:005200	8.9	ANK1, SPTA1, SPTB, ADD3, EPB41, EPB42
8	actin binding	GO:003779	8.3	EPB41L3, EPB41, ADD3, ADD2, SLC4A1, SPTB