Elliptocytosis 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Elliptocytosis 3

MalaCards integrated aliases for Elliptocytosis 3:

Name: Elliptocytosis 3 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

El3 ⁵⁸ ⁷⁶

Anemia, Neonatal Hemolytic, Fatal or Near-Fatal ⁵⁸

Elliptocytosis Rhesus-Unlinked Type ⁷⁶

Elliptocytosis, Hereditary ⁷⁴

Elliptocytosis-3 ⁵⁸

Ovalocytosis ⁷⁶

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617948

MeSH ⁴⁵ D004612

MedGen ⁴³ C1866810

UMLS ⁷⁴ C0013902 C1866810

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Summaries for Elliptocytosis 3

OMIM : ⁵⁸ Hereditary elliptocytosis-3 is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804). (617948)

MalaCards based summary : Elliptocytosis 3, also known as el3, is related to ovalocytosis, southeast asian and ovalocytosis, hereditary hemolytic, with defective erythropoiesis. An important gene associated with Elliptocytosis 3 is SPTB (Spectrin Beta, Erythrocytic).

UniProtKB/Swiss-Prot : ⁷⁶ Elliptocytosis 3: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive.

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Related Diseases for Elliptocytosis 3

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2	Elliptocytosis 1
Elliptocytosis 3

Diseases related to Elliptocytosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score
1	ovalocytosis, southeast asian	12.7
2	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	12.1
3	hereditary elliptocytosis	12.0
4	renal tubular acidosis, distal, autosomal dominant	11.1
5	elliptocytosis 2	11.1
6	elliptocytosis 1	11.1
7	renal tubular acidosis	10.5
8	renal tubular acidosis, distal	10.5
9	malaria	10.4
10	thalassemia	10.1
11	cryohydrocytosis	10.0
12	thymoma, familial	10.0
13	renal tubular acidosis, distal, with hemolytic anemia	10.0
14	beta-thalassemia	10.0
15	hemolytic anemia	10.0
16	neonatal anemia	10.0
17	hereditary spherocytosis	10.0
18	plasmodium vivax malaria	10.0
19	bilirubin metabolic disorder	10.0
20	thymoma	10.0
21	thymic carcinoma	10.0
22	hypersplenism	10.0
23	bowenoid papulosis	10.0

Graphical network of the top 20 diseases related to Elliptocytosis 3:

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Symptoms & Phenotypes for Elliptocytosis 3

Clinical features from OMIM:

617948

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Drugs & Therapeutics for Elliptocytosis 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Open-label, Prospective Evaluation of the Ulthera® System for Lifting Submental (Under the Chin) and Neck Tissue in Chinese Patients	Completed	NCT03351335	Not Applicable

Search NIH Clinical Center for Elliptocytosis 3

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Genetic Tests for Elliptocytosis 3

Genetic tests related to Elliptocytosis 3:

#	Genetic test	Affiliating Genes
1	Elliptocytosis 3 ³⁰	SPTB

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Anatomical Context for Elliptocytosis 3

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Publications for Elliptocytosis 3

Articles related to Elliptocytosis 3:

#	Title	Authors	Year
1	Extracellular loop 3 (EL3) and EL3-proximal transmembrane helix 7 of the mammalian type I and type II gonadotropin-releasing hormone (GnRH) receptors determine differential ligand selectivity to GnRH-I and GnRH-II. ( 15635044 )	Li JH...Seong JY	2005
2	Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587 )	Qualtieri A...Brancati C	1997
3	Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )	Gallagher PG...Forget BG	1996
4	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. ( 8226774 )	Sahr KE...Gallanello R	1993
5	A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). ( 1391962 )	Kanzaki A...Horiguchi M	1992
6	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 BG	1991
7	Negative-U, off-center OAs in GaAs and its relation to the EL3 level. ( 9997002 )	Kaufmann U...Alt HC	1991
8	An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). ( 2070088 )	Tse WT...Forget BG	1991
9	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
10	Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. ( 3580577 )	Pothier B...Lecomte MC	1987

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Genes for Elliptocytosis 3

Genes related to Elliptocytosis 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SPTB	Spectrin Beta, Erythrocytic	Protein Coding	1327.65	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	2056132 9075575 2070088 (more) 3580577 1391962 2346784 8226774 9163587

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Variations for Elliptocytosis 3

UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis 3:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	SPTB	p.Ala2018Gly	VAR_001357	rs121918647
2	SPTB	p.Ser2019Pro	VAR_001358	rs121918648
3	SPTB	p.Ala2023Val	VAR_001359	rs367841692
4	SPTB	p.Trp2024Arg	VAR_001360	rs122553965
5	SPTB	p.Leu2025Arg	VAR_001361	rs121918649
6	SPTB	p.Ala2053Pro	VAR_001362	rs121918645

ClinVar genetic disease variations for Elliptocytosis 3:

⁶ (show all 13)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SPTB	NM_001355436.2(SPTB): c.6157G> C (p.Ala2053Pro)	single nucleotide variant	Pathogenic	rs121918645	GRCh37	Chromosome 14, 65234443: 65234443
2	SPTB	NM_001355436.2(SPTB): c.6157G> C (p.Ala2053Pro)	single nucleotide variant	Pathogenic	rs121918645	GRCh38	Chromosome 14, 64767725: 64767725
3	SPTB	NM_000347.5(SPTB): c.6220_6269del50	single nucleotide variant	Pathogenic	rs863223302	GRCh38	Chromosome 14, 64767300: 64767300
4	SPTB	NM_000347.5(SPTB): c.6220_6269del50	single nucleotide variant	Pathogenic	rs863223302	GRCh37	Chromosome 14, 65234018: 65234018
5	SPTB	NM_001355436.2(SPTB): c.6135_6136dup (p.Lys2046Argfs)	duplication	Pathogenic	rs863223303	GRCh38	Chromosome 14, 64767746: 64767747
6	SPTB	NM_001355436.2(SPTB): c.6135_6136dup (p.Lys2046Argfs)	duplication	Pathogenic	rs863223303	GRCh37	Chromosome 14, 65234464: 65234465
7	SPTB	SPTB, 1-BP DEL, FS2075TER	deletion	Pathogenic
8	SPTB	NM_001355436.2(SPTB): c.6053C> G (p.Ala2018Gly)	single nucleotide variant	Pathogenic	rs121918647	GRCh37	Chromosome 14, 65234547: 65234547
9	SPTB	NM_001355436.2(SPTB): c.6053C> G (p.Ala2018Gly)	single nucleotide variant	Pathogenic	rs121918647	GRCh38	Chromosome 14, 64767829: 64767829
10	SPTB	NM_001355436.2(SPTB): c.6055T> C (p.Ser2019Pro)	single nucleotide variant	Pathogenic	rs121918648	GRCh37	Chromosome 14, 65234545: 65234545
11	SPTB	NM_001355436.2(SPTB): c.6055T> C (p.Ser2019Pro)	single nucleotide variant	Pathogenic	rs121918648	GRCh38	Chromosome 14, 64767827: 64767827
12	SPTB	NM_001355436.2(SPTB): c.6191G> C (p.Arg2064Pro)	single nucleotide variant	Pathogenic	rs121918650	GRCh37	Chromosome 14, 65234409: 65234409
13	SPTB	NM_001355436.2(SPTB): c.6191G> C (p.Arg2064Pro)	single nucleotide variant	Pathogenic	rs121918650	GRCh38	Chromosome 14, 64767691: 64767691

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Expression for Elliptocytosis 3

Search GEO for disease gene expression data for Elliptocytosis 3.

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Pathways for Elliptocytosis 3

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GO Terms for Elliptocytosis 3

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Elliptocytosis 3 (EL3)

Aliases & Classifications for Elliptocytosis 3

MalaCards integrated aliases for Elliptocytosis 3:

Classifications:

External Ids:

Summaries for Elliptocytosis 3

Related Diseases for Elliptocytosis 3

Diseases in the Hereditary Elliptocytosis family:

Diseases related to Elliptocytosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Elliptocytosis 3:

Symptoms & Phenotypes for Elliptocytosis 3

Clinical features from OMIM:

Drugs & Therapeutics for Elliptocytosis 3

Interventional clinical trials:

Genetic Tests for Elliptocytosis 3

Genetic tests related to Elliptocytosis 3:

Anatomical Context for Elliptocytosis 3

Publications for Elliptocytosis 3

Articles related to Elliptocytosis 3:

Genes for Elliptocytosis 3

Genes related to Elliptocytosis 3 (1 elite genes):

Variations for Elliptocytosis 3

UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis 3:

ClinVar genetic disease variations for Elliptocytosis 3:

Expression for Elliptocytosis 3

Pathways for Elliptocytosis 3

GO Terms for Elliptocytosis 3

Sources for Elliptocytosis 3