MCID: ELL008
MIFTS: 26

Elliptocytosis-2 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 49 11
Elliptocytosis 2 22 67 24 65
El2 22 67
 
Elliptocytosis Rhesus-Unlinked Type 67
Elliptocytosis, Hereditary 65
Ovalocytosis 67

Characteristics:

HPO:

61
elliptocytosis-2:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 130600
MedGen34 C1851741
MeSH36 D004612
UMLS65 C1851741

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 ovalocytosis, southeast asian and hereditary elliptocytosis, and has symptoms including 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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Graphical network of the top 20 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 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
2Simulines Non-Inferiority Pivotal StudyRecruitingNCT02736825

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 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_462dupTTGduplicationPathogenicrs757679761GRCh38Chr 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 variantPathogenicrs863223305GRCh38Chr 1, 158661410: 158661410
16SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenic
17SPTA1NM_003126.2(SPTA1): c.2806-13T> Gsingle nucleotide variantPathogenicrs757147440GRCh37Chr 1, 158626459: 158626459

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