MCID: ELL005
MIFTS: 15

Elliptocytosis 2 malady

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

Summaries for Elliptocytosis 2

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Elliptocytosis 2, is also known as elliptocytosis-2 An important gene associated with Elliptocytosis 2 is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Description from OMIM:48 130600

Aliases & Classifications for Elliptocytosis 2

About this section
Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

elliptocytosis 2 21 23 63
elliptocytosis-2 48


Related Diseases for Elliptocytosis 2

About this section

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 3 elliptocytosis 2
Elliptocytosis-1

Symptoms for Elliptocytosis 2

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

130600

Clinical features from OMIM:

130600

Drugs & Therapeutics for Elliptocytosis 2

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Elliptocytosis 2

Drug clinical trials:

Search ClinicalTrials for Elliptocytosis 2

Search NIH Clinical Center for Elliptocytosis 2

Search CenterWatch for Elliptocytosis 2

Genetic Tests for Elliptocytosis 2

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Elliptocytosis 2:

id Genetic test Affiliating Genes
1 Elliptocytosis 221 23 SPTA1

Anatomical Context for Elliptocytosis 2

About this section

Animal Models for Elliptocytosis 2 or affiliated genes

About this section

Publications for Elliptocytosis 2

About this section

Variations for Elliptocytosis 2

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (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:

1 (show all 13)
id Gene Name 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.781T> C (p.Ser261Pro)single nucleotide variantPathogenicrs121918636GRCh37Chr 1, 158648222: 158648222
4SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
5SPTA1NM_003126.2(SPTA1): c.137G> T (p.Gly46Val)single nucleotide variantPathogenicrs121918638GRCh37Chr 1, 158655025: 158655025
6SPTA1NM_003126.2(SPTA1): c.145C> T (p.Leu49Phe)single nucleotide variantPathogenicrs121918639GRCh37Chr 1, 158655017: 158655017
7SPTA1NM_003126.2(SPTA1): c.121C> T (p.Arg41Trp)single nucleotide variantPathogenicrs121918640GRCh37Chr 1, 158655041: 158655041
8SPTA1NM_003126.2(SPTA1): c.83G> T (p.Arg28Leu)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
9SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
10SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
11SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
12SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
13SPTA1NM_003126.2(SPTA1): c.2373C> A (p.Asp791Glu)single nucleotide variantPathogenicrs7418956GRCh37Chr 1, 158632583: 158632583

Expression for genes affiliated with Elliptocytosis 2

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Elliptocytosis 2

Search GEO for disease gene expression data for Elliptocytosis 2.

Pathways for genes affiliated with Elliptocytosis 2

About this section

Compounds for genes affiliated with Elliptocytosis 2

About this section

GO Terms for genes affiliated with Elliptocytosis 2

About this section

Products for genes affiliated with Elliptocytosis 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Elliptocytosis 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet