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

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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, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.

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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:

#	Related Disease	Score
1	ovalocytosis, southeast asian	12.5
2	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	11.9
3	hereditary elliptocytosis	11.7
4	elliptocytosis 2	11.6
5	renal tubular acidosis, distal, autosomal dominant	10.9
6	elliptocytosis 1	10.9
7	type i	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	Active, not recruiting	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	1027.81	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	2056132 9075575 1391962 (more) 9163587 2070088 3580577

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Variations for Elliptocytosis 3

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

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⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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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

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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

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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