EL2
MCID: ELL008
MIFTS: 29

Elliptocytosis-2 (EL2) malady

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

Aliases & Classifications for Elliptocytosis-2

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Aliases & Descriptions for Elliptocytosis-2:

Name: Elliptocytosis-2 52 12
Elliptocytosis 2 24 70 27 68
El2 24 70
 
Elliptocytosis Rhesus-Unlinked Type 70
Elliptocytosis, Hereditary 68
Ovalocytosis 70

Characteristics:

HPO:

64
elliptocytosis-2:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 130600
MedGen37 C1851741
MeSH39 D004612

Summaries for Elliptocytosis-2

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UniProtKB/Swiss-Prot:70 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 is Sertoli-Sertoli Cell Junction Dynamics.

Description from OMIM:52 130600

Related Diseases for Elliptocytosis-2

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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)
idRelated DiseaseScoreTop Affiliating Genes
1ovalocytosis, hereditary hemolytic12.2
2ovalocytosis, southeast asian11.9
3hereditary elliptocytosis11.6
4elliptocytosis-110.8
5elliptocytosis 310.8
6renal tubular acidosis10.2
7malaria10.0
8vagus nerve neoplasm9.8EPB41, SPTA1
9pyropoikilocytosis9.8EPB41, SPTA1
10thalassemia9.7
11neonatal anemia9.7
12hereditary spherocytosis9.7
13plasmodium vivax malaria9.7
14cerebritis9.7
15retinitis9.7
16hypersplenism9.7
17kernicterus9.7EPB41, SPTA1

Graphical network of diseases related to Elliptocytosis-2:



Diseases related to elliptocytosis-2

Symptoms & Phenotypes for Elliptocytosis-2

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Symptoms by clinical synopsis from OMIM:

130600

Clinical features from OMIM:

130600

Human phenotypes related to Elliptocytosis-2:

 64
id Description HPO Frequency HPO Source Accession
1 elliptocytosis64 HP:0004445

Drugs & Therapeutics for Elliptocytosis-2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines TransducersCompletedNCT02416076
2Simulines Non-Inferiority Pivotal StudyActive, not recruitingNCT02736825

Search NIH Clinical Center for Elliptocytosis-2

Genetic Tests for Elliptocytosis-2

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Genetic tests related to Elliptocytosis-2:

id Genetic test Affiliating Genes
1 Elliptocytosis 227 24 SPTA1

Anatomical Context for Elliptocytosis-2

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Publications for Elliptocytosis-2

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Variations for Elliptocytosis-2

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

70 (show all 19)
id Symbol AA change Variation ID SNP ID
1SPTA1p.Ile24SerVAR_001324
2SPTA1p.Arg28HisVAR_001325rs28934004
3SPTA1p.Arg28LeuVAR_001326rs121918641
4SPTA1p.Arg28SerVAR_001327rs28934005
5SPTA1p.Arg28CysVAR_001328rs121918642
6SPTA1p.Val31AlaVAR_001329rs773826036
7SPTA1p.Arg34TrpVAR_001330rs201568233
8SPTA1p.Arg41TrpVAR_001331rs121918640
9SPTA1p.Arg45SerVAR_001332rs121918637
10SPTA1p.Arg45ThrVAR_001333
11SPTA1p.Gly46ValVAR_001334rs121918638
12SPTA1p.Leu49PheVAR_001336rs121918639
13SPTA1p.Gly151AspVAR_001337rs199725919
14SPTA1p.Leu207ProVAR_001339rs121918643
15SPTA1p.Leu260ProVAR_001340rs121918634
16SPTA1p.Ser261ProVAR_001341rs121918636
17SPTA1p.His469ProVAR_001342
18SPTA1p.Gln471ProVAR_001344rs121918635
19SPTA1p.Asp791GluVAR_001346rs7418956

Clinvar genetic disease variations for Elliptocytosis-2:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTA1NM_ 003126.2(SPTA1): c.779T> C (p.Leu260Pro)SNVPathogenic/ Likely pathogenicrs121918634GRCh37Chr 1, 158648224: 158648224
2SPTA1NM_ 003126.2(SPTA1): c.1412A> C (p.Gln471Pro)SNVPathogenicrs121918635GRCh37Chr 1, 158641925: 158641925
3SPTA1NM_ 003126.2(SPTA1): c.460_ 462dupTTG (p.Leu154dup)duplicationPathogenicrs757679761GRCh38Chr 1, 158681596: 158681598
4SPTA1NM_ 003126.2(SPTA1): c.781T> C (p.Ser261Pro)SNVPathogenicrs121918636GRCh37Chr 1, 158648222: 158648222
5SPTA1NM_ 003126.2(SPTA1): c.135G> T (p.Arg45Ser)SNVPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
6SPTA1NM_ 003126.2(SPTA1): c.137G> T (p.Gly46Val)SNVPathogenicrs121918638GRCh37Chr 1, 158655025: 158655025
7SPTA1NM_ 003126.2(SPTA1): c.145C> T (p.Leu49Phe)SNVPathogenicrs121918639GRCh37Chr 1, 158655017: 158655017
8SPTA1NM_ 003126.2(SPTA1): c.121C> T (p.Arg41Trp)SNVPathogenicrs121918640GRCh37Chr 1, 158655041: 158655041
9SPTA1NM_ 003126.2(SPTA1): c.83G> T (p.Arg28Leu)SNVPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
10SPTA1NM_ 003126.2(SPTA1): c.82C> A (p.Arg28Ser)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
11SPTA1NM_ 003126.2(SPTA1): c.82C> T (p.Arg28Cys)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
12SPTA1NM_ 003126.2(SPTA1): c.83G> A (p.Arg28His)SNVPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
13SPTA1NM_ 003126.2(SPTA1): c.620T> C (p.Leu207Pro)SNVPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
14SPTA1NM_ 003126.2(SPTA1): c.2465_ 2587del123 (p.Lys823_ Gly863del)SNVPathogenicrs863223305GRCh38Chr 1, 158661410: 158661410
15SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenic

Expression for genes affiliated with Elliptocytosis-2

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

Pathways for genes affiliated with Elliptocytosis-2

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1EPB41, SPTA1

GO Terms for genes affiliated with Elliptocytosis-2

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

idNameGO IDScoreTop Affiliating Genes
1cell cortexGO:00059389.6EPB41, SPTA1
2cortical cytoskeletonGO:00308639.6EPB41, SPTA1
3cytoplasmic side of plasma membraneGO:00098989.3EPB41, SPTA1
4spectrin-associated cytoskeletonGO:00147319.1EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeleton organizationGO:00300369.7EPB41, SPTA1
2positive regulation of protein bindingGO:00320929.7EPB41, SPTA1
3regulation of cell shapeGO:00083609.1EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.7EPB41, SPTA1
2structural constituent of cytoskeletonGO:00052009.1EPB41, SPTA1

Sources for Elliptocytosis-2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet