MCID: ELL008
MIFTS: 25

Elliptocytosis-2 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Aliases & Classifications for Elliptocytosis-2

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Aliases & Descriptions for Elliptocytosis-2:

Name: Elliptocytosis-2 49 11 22 24
Elliptocytosis 2 65 67
El2 22 67
 
Elliptocytosis Rhesus-Unlinked Type 67
Ovalocytosis 67


Classifications:



External Ids:

OMIM49 130600
MedGen34 C1851741
MeSH36 D004612

Summaries for Elliptocytosis-2

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UniProtKB/Swiss-Prot:67 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 renal tubular acidosis and ovalocytosis, southeast asian, and has symptoms including autosomal dominant inheritance, heterogeneous and elliptocytosis. An important gene associated with Elliptocytosis-2 is SPTA1 (Spectrin, Alpha, Erythrocytic 1).

Description from OMIM:49 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 14)
idRelated DiseaseScoreTop Affiliating Genes
1renal tubular acidosis10.5
2ovalocytosis, southeast asian10.4
3malaria10.3
4hereditary elliptocytosis10.3
5elliptocytosis-110.0
6thalassemia10.0
7glucose-6-phosphate dehydrogenase deficiency10.0
8hereditary spherocytosis10.0
9plasmodium vivax malaria10.0
10cerebritis10.0
11hypersplenism10.0
12neonatal anemia10.0
13retinitis10.0
14elliptocytosis 310.0

Graphical network of diseases related to Elliptocytosis-2:



Diseases related to elliptocytosis-2

Symptoms for Elliptocytosis-2

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Symptoms by clinical synopsis from OMIM:

130600

Clinical features from OMIM:

130600

HPO human phenotypes related to Elliptocytosis-2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 elliptocytosis 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

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 222 24 SPTA1

Anatomical Context for Elliptocytosis-2

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Animal Models for Elliptocytosis-2 or affiliated genes

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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:

67 (show all 19)
id Symbol AA change Variation ID SNP ID
1SPTA1p.Ile24SerVAR_001324
2SPTA1p.Arg28HisVAR_001325rs28934004
3SPTA1p.Arg28LeuVAR_001326
4SPTA1p.Arg28SerVAR_001327rs28934005
5SPTA1p.Arg28CysVAR_001328
6SPTA1p.Val31AlaVAR_001329
7SPTA1p.Arg34TrpVAR_001330
8SPTA1p.Arg41TrpVAR_001331
9SPTA1p.Arg45SerVAR_001332
10SPTA1p.Arg45ThrVAR_001333
11SPTA1p.Gly46ValVAR_001334
12SPTA1p.Leu49PheVAR_001336
13SPTA1p.Gly151AspVAR_001337
14SPTA1p.Leu207ProVAR_001339rs121918643
15SPTA1p.Leu260ProVAR_001340
16SPTA1p.Ser261ProVAR_001341
17SPTA1p.His469ProVAR_001342
18SPTA1p.Gln471ProVAR_001344
19SPTA1p.Asp791GluVAR_001346rs7418956

Clinvar genetic disease variations for Elliptocytosis-2:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTA1NM_003126.2(SPTA1): c.779T> C (p.Leu260Pro)single nucleotide variantPathogenicrs121918634GRCh37Chr 1, 158648224: 158648224
2SPTA1NM_003126.2(SPTA1): c.1412A> C (p.Gln471Pro)single nucleotide variantPathogenicrs121918635GRCh37Chr 1, 158641925: 158641925
3SPTA1NM_003126.2(SPTA1): c.460_462dupTTGduplicationPathogenicGRCh38Chr 1, 158681596: 158681598
4SPTA1NM_003126.2(SPTA1): c.781T> C (p.Ser261Pro)single nucleotide variantPathogenicrs121918636GRCh37Chr 1, 158648222: 158648222
5SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
6SPTA1NM_003126.2(SPTA1): c.137G> T (p.Gly46Val)single nucleotide variantPathogenicrs121918638GRCh37Chr 1, 158655025: 158655025
7SPTA1NM_003126.2(SPTA1): c.145C> T (p.Leu49Phe)single nucleotide variantPathogenicrs121918639GRCh37Chr 1, 158655017: 158655017
8SPTA1NM_003126.2(SPTA1): c.121C> T (p.Arg41Trp)single nucleotide variantPathogenicrs121918640GRCh37Chr 1, 158655041: 158655041
9SPTA1NM_003126.2(SPTA1): c.83G> T (p.Arg28Leu)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
10SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
11SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
12SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
13SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
14SPTA1NM_003126.2(SPTA1): c.2373C> A (p.Asp791Glu)single nucleotide variantPathogenicrs7418956GRCh37Chr 1, 158632583: 158632583
15SPTA1NM_003126.2(SPTA1): c.2465_2587del123 (p.Lys823_Gly863del)single nucleotide variantPathogenicGRCh38Chr 1, 158661410: 158661410
16SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenic
17SPTA1SPTA1, IVS19, T-G, -13single nucleotide variantPathogenic

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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GO Terms for genes affiliated with Elliptocytosis-2

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Sources for Elliptocytosis-2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet