MCID: ELL005
MIFTS: 15

Elliptocytosis 2 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Elliptocytosis 2

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MalaCards based summary: Elliptocytosis 2, is also known as elliptocytosis-2 and has symptoms including An important gene associated with Elliptocytosis 2 is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Description from OMIM:46 130600

Aliases & Classifications for Elliptocytosis 2

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Elliptocytosis 2, Aliases & Descriptions:

Name: Elliptocytosis 2 20 22 62
 
Elliptocytosis-2 46


Classifications:

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


Related Diseases for Elliptocytosis 2

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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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Drug clinical trials:

Search ClinicalTrials for Elliptocytosis 2

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 220 22 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:

64 (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:

6 (show all 17)
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
3SPTA1SPTA1, 3-BP INS, LEU154DUPduplicationPathogenic
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
15SPTA1SPTA1, IVS17, G-A, -1single nucleotide variantPathogenic
16SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenic
17SPTA1SPTA1, IVS19, T-G, -13single nucleotide variantPathogenic

Expression for genes affiliated with Elliptocytosis 2

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Expression patterns in normal tissues for genes affiliated with Elliptocytosis 2

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Pathways for genes affiliated with Elliptocytosis 2

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Compounds for genes affiliated with Elliptocytosis 2

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GO Terms for genes affiliated with Elliptocytosis 2

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Products for genes affiliated with Elliptocytosis 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Elliptocytosis 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet