EL3
MCID: ELL006
MIFTS: 24

Elliptocytosis 3 (EL3)

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

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:



External Ids:

OMIM 58 617948
MeSH 45 D004612
MedGen 43 C1866810

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.

Related Diseases for Elliptocytosis 3

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



Diseases related to Elliptocytosis 3

Symptoms & Phenotypes for Elliptocytosis 3

Clinical features from OMIM:

617948

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

Genetic Tests for Elliptocytosis 3

Genetic tests related to Elliptocytosis 3:

# Genetic test Affiliating Genes
1 Elliptocytosis 3 30 SPTB

Anatomical Context for Elliptocytosis 3

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 )
2005
2
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587 )
1997
3
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
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 )
1993
5
A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216). ( 1391962 )
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 )
1991
7
Negative-U, off-center OAs in GaAs and its relation to the EL3 level. ( 9997002 )
1991
8
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). ( 2070088 )
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 )
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 )
1987

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

Expression for Elliptocytosis 3

Search GEO for disease gene expression data for Elliptocytosis 3.

Pathways for Elliptocytosis 3

GO Terms for Elliptocytosis 3

Sources for Elliptocytosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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52 NDF-RT
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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