EL3
MCID: ELL006
MIFTS: 19

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 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:



External Ids:

OMIM 57 617948
MedGen 42 C1866810
MeSH 44 D004612

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.

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 Top Affiliating Genes
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:



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 29 SPTB

Anatomical Context for Elliptocytosis 3

Publications for Elliptocytosis 3

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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