EL2
MCID: ELL005
MIFTS: 24

Elliptocytosis 2 (EL2)

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

Aliases & Classifications for Elliptocytosis 2

MalaCards integrated aliases for Elliptocytosis 2:

Name: Elliptocytosis 2 58 76 30 6 41 74
Elliptocytosis-2 58 13
El2 58 76
Elliptocytosis, Rhesus-Unlinked Type 58
Elliptocytosis Rhesus-Unlinked Type 76
Elliptocytosis, Hereditary 74
Ovalocytosis 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
elliptocytosis 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 130600
MeSH 45 D004612
MedGen 43 C1851741

Summaries for Elliptocytosis 2

UniProtKB/Swiss-Prot : 76 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, southeast asian and ovalocytosis, hereditary hemolytic, with defective erythropoiesis. An important gene associated with Elliptocytosis 2 is SPTA1 (Spectrin Alpha, Erythrocytic 1). Related phenotype is elliptocytosis.

Description from OMIM: 130600

Related Diseases for Elliptocytosis 2

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

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

(show all 22)
# 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 elliptocytosis 3 11.6
5 renal tubular acidosis, distal, autosomal dominant 11.1
6 elliptocytosis 1 11.1
7 renal tubular acidosis 10.5
8 renal tubular acidosis, distal 10.4
9 malaria 10.4
10 thalassemia 10.1
11 cryohydrocytosis 10.0
12 thymoma, familial 10.0
13 beta-thalassemia 10.0
14 hemolytic anemia 10.0
15 neonatal anemia 10.0
16 hereditary spherocytosis 10.0
17 plasmodium vivax malaria 10.0
18 bilirubin metabolic disorder 10.0
19 thymoma 10.0
20 thymic carcinoma 10.0
21 hypersplenism 10.0
22 bowenoid papulosis 10.0

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



Diseases related to Elliptocytosis 2

Symptoms & Phenotypes for Elliptocytosis 2

Human phenotypes related to Elliptocytosis 2:

33
# Description HPO Frequency HPO Source Accession
1 elliptocytosis 33 HP:0004445

Symptoms via clinical synopsis from OMIM:

58
Hematology:
elliptocytosis

Clinical features from OMIM:

130600

Drugs & Therapeutics for Elliptocytosis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers Completed NCT02416076 Not Applicable
2 Simulines Non-Inferiority Pivotal Study Terminated NCT02736825 Not Applicable
3 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 2

Genetic Tests for Elliptocytosis 2

Genetic tests related to Elliptocytosis 2:

# Genetic test Affiliating Genes
1 Elliptocytosis 2 30 SPTA1

Anatomical Context for Elliptocytosis 2

Publications for Elliptocytosis 2

Variations for Elliptocytosis 2

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

76 (show all 19)
# Symbol AA change Variation ID SNP ID
1 SPTA1 p.Ile24Ser VAR_001324
2 SPTA1 p.Arg28His VAR_001325 rs121918641
3 SPTA1 p.Arg28Leu VAR_001326 rs121918641
4 SPTA1 p.Arg28Ser VAR_001327 rs121918642
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 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTA1 NM_003126.3(SPTA1): c.779T> C (p.Leu260Pro) single nucleotide variant Likely pathogenic rs121918634 GRCh37 Chromosome 1, 158648224: 158648224
2 SPTA1 NM_003126.3(SPTA1): c.779T> C (p.Leu260Pro) single nucleotide variant Likely pathogenic rs121918634 GRCh38 Chromosome 1, 158678434: 158678434
3 SPTA1 NM_003126.3(SPTA1): c.1412A> C (p.Gln471Pro) single nucleotide variant Pathogenic rs121918635 GRCh37 Chromosome 1, 158641925: 158641925
4 SPTA1 NM_003126.3(SPTA1): c.1412A> C (p.Gln471Pro) single nucleotide variant Pathogenic rs121918635 GRCh38 Chromosome 1, 158672135: 158672135
5 SPTA1 NM_003126.3(SPTA1): c.460_462dup (p.Leu154dup) duplication Likely pathogenic rs757679761 GRCh38 Chromosome 1, 158681596: 158681598
6 SPTA1 NM_003126.3(SPTA1): c.460_462dup (p.Leu154dup) duplication Likely pathogenic rs757679761 GRCh37 Chromosome 1, 158651386: 158651388
7 SPTA1 NM_003126.3(SPTA1): c.781T> C (p.Ser261Pro) single nucleotide variant Pathogenic rs121918636 GRCh37 Chromosome 1, 158648222: 158648222
8 SPTA1 NM_003126.3(SPTA1): c.781T> C (p.Ser261Pro) single nucleotide variant Pathogenic rs121918636 GRCh38 Chromosome 1, 158678432: 158678432
9 SPTA1 NM_003126.3(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh37 Chromosome 1, 158655027: 158655027
10 SPTA1 NM_003126.3(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh38 Chromosome 1, 158685237: 158685237
11 SPTA1 NM_003126.3(SPTA1): c.137G> T (p.Gly46Val) single nucleotide variant Likely pathogenic rs121918638 GRCh37 Chromosome 1, 158655025: 158655025
12 SPTA1 NM_003126.3(SPTA1): c.137G> T (p.Gly46Val) single nucleotide variant Likely pathogenic rs121918638 GRCh38 Chromosome 1, 158685235: 158685235
13 SPTA1 NM_003126.3(SPTA1): c.145C> T (p.Leu49Phe) single nucleotide variant Pathogenic rs121918639 GRCh37 Chromosome 1, 158655017: 158655017
14 SPTA1 NM_003126.3(SPTA1): c.145C> T (p.Leu49Phe) single nucleotide variant Pathogenic rs121918639 GRCh38 Chromosome 1, 158685227: 158685227
15 SPTA1 NM_003126.3(SPTA1): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs121918640 GRCh37 Chromosome 1, 158655041: 158655041
16 SPTA1 NM_003126.3(SPTA1): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs121918640 GRCh38 Chromosome 1, 158685251: 158685251
17 SPTA1 NM_003126.3(SPTA1): c.83G> T (p.Arg28Leu) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
18 SPTA1 NM_003126.3(SPTA1): c.83G> T (p.Arg28Leu) single nucleotide variant Pathogenic rs121918641 GRCh38 Chromosome 1, 158685289: 158685289
19 SPTA1 NM_003126.3(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
20 SPTA1 NM_003126.3(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh38 Chromosome 1, 158685290: 158685290
21 SPTA1 NM_003126.3(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
22 SPTA1 NM_003126.3(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh38 Chromosome 1, 158685290: 158685290
23 SPTA1 NM_003126.3(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
24 SPTA1 NM_003126.3(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh38 Chromosome 1, 158685289: 158685289
25 SPTA1 NM_003126.3(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh37 Chromosome 1, 158650431: 158650431
26 SPTA1 NM_003126.3(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh38 Chromosome 1, 158680641: 158680641
27 SPTA1 NM_003126.3(SPTA1): c.2373C> A (p.Asp791Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs7418956 GRCh37 Chromosome 1, 158632583: 158632583
28 SPTA1 NM_003126.3(SPTA1): c.2373C> A (p.Asp791Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs7418956 GRCh38 Chromosome 1, 158662793: 158662793
29 SPTA1 NM_003126.2(SPTA1): c.2465_2587del123 (p.Lys823_Gly863del) single nucleotide variant Pathogenic rs863223305 GRCh38 Chromosome 1, 158661410: 158661410
30 SPTA1 NM_003126.2(SPTA1): c.2465_2587del123 (p.Lys823_Gly863del) single nucleotide variant Pathogenic rs863223305 GRCh37 Chromosome 1, 158631200: 158631200
31 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

GO Terms for Elliptocytosis 2

Sources for Elliptocytosis 2

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
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50 NCI
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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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