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 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Elliptocytosis-3 ⁵⁷ ¹³

El3 ⁵⁷ ⁷⁵

Anemia, Neonatal Hemolytic, Fatal or Near-Fatal ⁵⁷

Elliptocytosis Rhesus-Unlinked Type ⁷⁵

Elliptocytosis, Hereditary ⁷³

Ovalocytosis ⁷⁵

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617948

MedGen ⁴² C1866810

MeSH ⁴⁴ D004612

UMLS ⁷³ C1866810 C0013902

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Summaries for Elliptocytosis 3

OMIM : ⁵⁷ 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 elliptocytosis-3, 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 : ⁷⁵ 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 15)

#	Related Disease	Score
1	ovalocytosis, southeast asian	12.7
2	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	12.1
3	hereditary elliptocytosis	11.9
4	renal tubular acidosis, distal, autosomal dominant	11.1
5	elliptocytosis 2	11.0
6	elliptocytosis 1	11.0
7	renal tubular acidosis	10.5
8	renal tubular acidosis, distal	10.5
9	malaria	10.3
10	cryohydrocytosis	10.0
11	thalassemia	10.0
12	neonatal anemia	10.0
13	hereditary spherocytosis	10.0
14	plasmodium vivax malaria	10.0
15	hypersplenism	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 ²⁹	SPTB

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Anatomical Context for Elliptocytosis 3

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Publications for Elliptocytosis 3

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	1391962 2056132 9075575 (more) 2070088 3580577 2346784 8226774 9163587

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Variations for Elliptocytosis 3

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

⁷⁵

#	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_001024858.2(SPTB): c.6157G> C (p.Ala2053Pro)	single nucleotide variant	Pathogenic	rs121918645	GRCh37	Chromosome 14, 65234443: 65234443
2	SPTB	NM_001024858.2(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_001355437.1(SPTB): c.6135_6136dup (p.Lys2046Argfs)	duplication	Pathogenic	rs863223303	GRCh38	Chromosome 14, 64767746: 64767747
6	SPTB	NM_001355437.1(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_001355437.1(SPTB): c.6053C> G (p.Ala2018Gly)	single nucleotide variant	Pathogenic	rs121918647	GRCh37	Chromosome 14, 65234547: 65234547
9	SPTB	NM_001355437.1(SPTB): c.6053C> G (p.Ala2018Gly)	single nucleotide variant	Pathogenic	rs121918647	GRCh38	Chromosome 14, 64767829: 64767829
10	SPTB	NM_001355437.1(SPTB): c.6055T> C (p.Ser2019Pro)	single nucleotide variant	Pathogenic	rs121918648	GRCh37	Chromosome 14, 65234545: 65234545
11	SPTB	NM_001355437.1(SPTB): c.6055T> C (p.Ser2019Pro)	single nucleotide variant	Pathogenic	rs121918648	GRCh38	Chromosome 14, 64767827: 64767827
12	SPTB	NM_001355436.1(SPTB): c.6191G> C (p.Arg2064Pro)	single nucleotide variant	Pathogenic	rs121918650	GRCh37	Chromosome 14, 65234409: 65234409
13	SPTB	NM_001355436.1(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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Sources for Elliptocytosis 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

EL3 MCID: ELL006 MIFTS: 19	Elliptocytosis 3 (EL3) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Related diseases Expand all tables

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

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