EL2
MCID: ELL005
MIFTS: 30

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 25)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 12.7
2 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 12.1
3 hereditary elliptocytosis 12.0
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 10.5
9 malaria 10.4
10 thalassemia 10.1
11 epilepsy 10.1
12 melanoma 10.1
13 cryohydrocytosis 10.0
14 thymoma, familial 10.0
15 renal tubular acidosis, distal, with hemolytic anemia 10.0
16 beta-thalassemia 10.0
17 hemolytic anemia 10.0
18 neonatal anemia 10.0
19 hereditary spherocytosis 10.0
20 plasmodium vivax malaria 10.0
21 bilirubin metabolic disorder 10.0
22 thymoma 10.0
23 thymic carcinoma 10.0
24 hypersplenism 10.0
25 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

Articles related to Elliptocytosis 2:

(show top 50) (show all 130)
# Title Authors Year
1
First principles study of the ternary complex model of EL2 defect in GaAs saturable absorber. ( 22418509 )
2012
2
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. ( 16150946 )
2005
3
SVA elements are nonautonomous retrotransposons that cause disease in humans. ( 14628287 )
2003
4
Evidence indicating that the TM4, EL2, and TM5 of the melanocortin 3 receptor Do not participate in ligand binding. ( 8954958 )
1996
5
Verification of EL2 electronic absorption effect on charge transfer in semi-insulating GaAs. ( 9982541 )
1996
6
X-ray diffraction examinations of EL2-like defect metastability in low-temperature gallium arsenide. ( 9982636 )
1996
7
Analysis of space-charge wave effects in GaAs:EL2. ( 9985290 )
1996
8
Congenic strains reveal effects of the epilepsy quantitative trait locus, El2, separate from other El loci. ( 8747921 )
1995
9
Optical cross section for the EL2-->EL2(*) metastable transformation. ( 9977820 )
1995
10
Hydrogen passivation of EL2 defects and H2*-like complex formation in gallium arsenide. ( 9979255 )
1995
11
Deep-acceptor-mediated photoquenching of the midgap donor EL2 in semi-insulating GaAs. ( 9981230 )
1995
12
Relation between the metastability of EL2 and the photosensitivity of local vibrational modes in semi-insulating GaAs. ( 9981670 )
1995
13
Splitting of the metastable EL2 acceptor state. ( 9975163 )
1994
14
Temperature dependence of the EL2 metastability in semi-insulating GaAs: Thermal hysteresis between the metastable and reverse transitions. ( 9975628 )
1994
15
Temperature enhancement of the photorefractive effect in GaAs due to the metastable state of the EL2 defect. ( 9976093 )
1994
16
Metastable vacancy in the EL2 defect in GaAs studied by positron-annihilation spectroscopies. ( 10009563 )
1994
17
Participation of EL2 in the donor activation of silicon implanted into GaAs. ( 10010779 )
1994
18
Photoenhancement and photoquenching of the 0.68-eV EL2 photoluminescence emission in GaAs grown by molecular-beam epitaxy at low temperatures. ( 10010790 )
1994
19
Symmetry determination of the EL2 defect by numerical fitting of capacitance transients under uniaxial stress. ( 10010959 )
1994
20
Dissociation kinetics of the EL2-hydrogen complex in passivated GaAs. ( 10011450 )
1994
21
EL2 deep donor state in semi-insulating GaAs revealed by frequency dependent positron mobility measurements. ( 10057178 )
1994
22
A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. ( 8040317 )
1994
23
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. ( 8132574 )
1994
24
Pressure dependence of deep levels of the As antisite, the Ga-vacancy-As-interstitial pair, and of the stable and metastable states of EL2. ( 10006107 )
1993
25
Observation of luminescence from the EL2 metastable state in liquid-encapsulated Czochralski-grown GaAs under hydrostatic pressure. ( 10006134 )
1993
26
AsGa-XI complexes as models for the EL2 center in GaAs. ( 10006193 )
1993
27
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. ( 8490186 )
1993
28
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. ( 8444470 )
1993
29
Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. ( 8434258 )
1993
30
Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin. ( 8435324 )
1993
31
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. ( 1541680 )
1992
32
Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis. ( 1642244 )
1992
33
Antisite-interstitial-complex model for the EL2 defect in GaAs. ( 10003617 )
1992
34
Vibronic levels of the EL2 center under uniaxial stress. ( 10003719 )
1992
35
Electronic aspects of the optical-absorption spectrum of the EL2 defect in GaAs. ( 10000661 )
1992
36
Identification of the isolated arsenic antisite defect in electron-irradiated gallium arsenide and its relation to the EL2 defect. ( 10001637 )
1992
37
EL2-copper interaction in heat-treated GaAs. ( 10002440 )
1992
38
Electrical spectroscopy of GaAs with intrinsic illumination: The optical recovery of EL2. ( 10003777 )
1992
39
Erratum: Electronic aspects of the optical-absorption spectrum of the EL2 defect in GaAs ( 10021575 )
1992
40
Breathing-mode relaxation associated with electron emission and capture processes of EL2 in GaAs. ( 10045168 )
1992
41
First observation of the EL2 lattice defect in indium gallium arsenide grown by molecular-beam epitaxy. ( 10045324 )
1992
42
Evidence for trigonal symmetry of the metastable state of the EL2 defect in GaAs. ( 10046999 )
1992
43
Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. ( 1638030 )
1992
44
Kinetics of holes optically excited from the AsGa EL2 midgap level in semi-insulating GaAs. ( 9997348 )
1991
45
Pressure-induced negative charge state of the EL2 defect in its metastable configuration. ( 9997476 )
1991
46
EL2-defect-related changes in the magnetophotoconductivity of shallow donors in bulk semi-insulating GaAs. ( 9998204 )
1991
47
Observation of an additional electronic level of the EL2 defect. ( 9999657 )
1991
48
Photoluminescence studies of the EL2 defect in gallium arsenide under external perturbations. ( 10044065 )
1991
49
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. ( 1845156 )
1991
50
Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. ( 2043465 )
1991

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
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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