EL2
MCID: ELL008
MIFTS: 29

Elliptocytosis-2 (EL2) malady

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

Aliases & Classifications for Elliptocytosis-2

Aliases & Descriptions for Elliptocytosis-2:

Name: Elliptocytosis-2 54 13
Elliptocytosis 2 24 66 29 69
El2 24 66
Elliptocytosis Rhesus-Unlinked Type 66
Elliptocytosis, Hereditary 69
Ovalocytosis 66

Characteristics:

HPO:

32
elliptocytosis-2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 130600
MedGen 40 C1851741
MeSH 42 D004612

Summaries for Elliptocytosis-2

UniProtKB/Swiss-Prot : 66 Elliptocytosis 2: 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.

MalaCards based summary : Elliptocytosis-2, also known as elliptocytosis 2, is related to ovalocytosis, hereditary hemolytic and ovalocytosis, southeast asian, and has symptoms including elliptocytosis An important gene associated with Elliptocytosis-2 is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways is Sertoli-Sertoli Cell Junction Dynamics.

Description from OMIM: 130600

Related Diseases for Elliptocytosis-2

Diseases in the Elliptocytosis-1 family:

Elliptocytosis-2 Hereditary Elliptocytosis
Elliptocytosis 3

Diseases related to Elliptocytosis-2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 ovalocytosis, hereditary hemolytic 12.2
2 ovalocytosis, southeast asian 11.9
3 hereditary elliptocytosis 11.6
4 elliptocytosis 3 10.8
5 elliptocytosis-1 10.8
6 renal tubular acidosis 10.2
7 malaria 10.0
8 vagus nerve neoplasm 9.8 EPB41 SPTA1
9 pyropoikilocytosis 9.8 EPB41 SPTA1
10 retinitis 9.7
11 hypersplenism 9.7
12 thalassemia 9.7
13 neonatal anemia 9.7
14 hereditary spherocytosis 9.7
15 plasmodium vivax malaria 9.7
16 cerebritis 9.7
17 kernicterus 9.7 EPB41 SPTA1

Graphical network of the top 20 diseases related to Elliptocytosis-2:



Diseases related to Elliptocytosis-2

Symptoms & Phenotypes for Elliptocytosis-2

Symptoms by clinical synopsis from OMIM:

130600

Clinical features from OMIM:

130600

Human phenotypes related to Elliptocytosis-2:

32
id Description HPO Frequency HPO Source Accession
1 elliptocytosis 32 HP:0004445

Drugs & Therapeutics for Elliptocytosis-2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076
2 Simulines Non-Inferiority Pivotal Study Active, not recruiting NCT02736825

Search NIH Clinical Center for Elliptocytosis-2

Genetic Tests for Elliptocytosis-2

Genetic tests related to Elliptocytosis-2:

id Genetic test Affiliating Genes
1 Elliptocytosis 2 29 24 SPTA1

Anatomical Context for Elliptocytosis-2

Publications for Elliptocytosis-2

Variations for Elliptocytosis-2

UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis-2:

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 SPTA1 p.Ile24Ser VAR_001324
2 SPTA1 p.Arg28His VAR_001325 rs28934004
3 SPTA1 p.Arg28Leu VAR_001326 rs121918641
4 SPTA1 p.Arg28Ser VAR_001327 rs28934005
5 SPTA1 p.Arg28Cys VAR_001328 rs121918642
6 SPTA1 p.Val31Ala VAR_001329 rs773826036
7 SPTA1 p.Arg34Trp VAR_001330 rs201568233
8 SPTA1 p.Arg41Trp VAR_001331 rs121918640
9 SPTA1 p.Arg45Ser VAR_001332 rs121918637
10 SPTA1 p.Arg45Thr VAR_001333
11 SPTA1 p.Gly46Val VAR_001334 rs121918638
12 SPTA1 p.Leu49Phe VAR_001336 rs121918639
13 SPTA1 p.Gly151Asp VAR_001337 rs199725919
14 SPTA1 p.Leu207Pro VAR_001339 rs121918643
15 SPTA1 p.Leu260Pro VAR_001340 rs121918634
16 SPTA1 p.Ser261Pro VAR_001341 rs121918636
17 SPTA1 p.His469Pro VAR_001342
18 SPTA1 p.Gln471Pro VAR_001344 rs121918635
19 SPTA1 p.Asp791Glu VAR_001346 rs7418956

ClinVar genetic disease variations for Elliptocytosis-2:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SPTA1 NM_003126.2(SPTA1): c.779T> C (p.Leu260Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918634 GRCh37 Chromosome 1, 158648224: 158648224
2 SPTA1 NM_003126.2(SPTA1): c.1412A> C (p.Gln471Pro) single nucleotide variant Pathogenic rs121918635 GRCh37 Chromosome 1, 158641925: 158641925
3 SPTA1 NM_003126.2(SPTA1): c.460_462dupTTG (p.Leu154dup) duplication Pathogenic rs757679761 GRCh38 Chromosome 1, 158681596: 158681598
4 SPTA1 NM_003126.2(SPTA1): c.781T> C (p.Ser261Pro) single nucleotide variant Pathogenic rs121918636 GRCh37 Chromosome 1, 158648222: 158648222
5 SPTA1 NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh37 Chromosome 1, 158655027: 158655027
6 SPTA1 NM_003126.2(SPTA1): c.137G> T (p.Gly46Val) single nucleotide variant Pathogenic rs121918638 GRCh37 Chromosome 1, 158655025: 158655025
7 SPTA1 NM_003126.2(SPTA1): c.145C> T (p.Leu49Phe) single nucleotide variant Pathogenic rs121918639 GRCh37 Chromosome 1, 158655017: 158655017
8 SPTA1 NM_003126.2(SPTA1): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs121918640 GRCh37 Chromosome 1, 158655041: 158655041
9 SPTA1 NM_003126.2(SPTA1): c.83G> T (p.Arg28Leu) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
10 SPTA1 NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
11 SPTA1 NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
12 SPTA1 NM_003126.2(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
13 SPTA1 NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh37 Chromosome 1, 158650431: 158650431
14 SPTA1 NM_003126.2(SPTA1): c.2465_2587del123 (p.Lys823_Gly863del) single nucleotide variant Pathogenic rs863223305 GRCh38 Chromosome 1, 158661410: 158661410
15 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS indel Pathogenic

Expression for Elliptocytosis-2

Search GEO for disease gene expression data for Elliptocytosis-2.

Pathways for Elliptocytosis-2

Pathways related to Elliptocytosis-2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 EPB41 SPTA1

GO Terms for Elliptocytosis-2

Cellular components related to Elliptocytosis-2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.26 EPB41 SPTA1
2 cytoplasmic side of plasma membrane GO:0009898 9.16 EPB41 SPTA1
3 cortical cytoskeleton GO:0030863 8.96 EPB41 SPTA1
4 spectrin-associated cytoskeleton GO:0014731 8.62 EPB41 SPTA1

Biological processes related to Elliptocytosis-2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.16 EPB41 SPTA1
2 regulation of cell shape GO:0008360 8.96 EPB41 SPTA1
3 positive regulation of protein binding GO:0032092 8.62 EPB41 SPTA1

Molecular functions related to Elliptocytosis-2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.96 EPB41 SPTA1
2 structural constituent of cytoskeleton GO:0005200 8.62 EPB41 SPTA1

Sources for Elliptocytosis-2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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