MCID: ELL008
MIFTS: 30

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 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. Related mouse phenotypes are liver/biliary system and renal/urinary system.

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:

idRelated DiseaseScoreTop Affiliating Genes
1ovalocytosis, hereditary hemolytic12.2
2ovalocytosis, southeast asian11.9
3hereditary elliptocytosis11.6
4elliptocytosis 311.3
5plasmodium vivax malaria9.5EPB41, SPTA1
6pupil disease9.3EPB41, 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

MGI Mouse Phenotypes related to Elliptocytosis-2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.8EPB41, SPTA1
2MP:00053679.1EPB41, SPTA1

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 17)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTA1NM_003126.2(SPTA1): c.779T> C (p.Leu260Pro)SNVPathogenicrs121918634GRCh37Chr 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.2373C> A (p.Asp791Glu)SNVPathogenicrs7418956GRCh37Chr 1, 158632583: 158632583
15SPTA1NM_003126.2(SPTA1): c.2465_2587del123 (p.Lys823_Gly863del)SNVPathogenicrs863223305GRCh38Chr 1, 158661410: 158661410
16SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenicChr na, -1: -1
17EPB41NM_203342.2(EPB41): c.444_450delGAATCAG (p.Asn149Profs)deletionPathogenicrs869025285GRCh37Chr 1, 29344901: 29344907

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
1cortical cytoskeletonGO:00308639.5EPB41, SPTA1
2spectrinGO:00080919.4EPB41, SPTA1
3spectrin-associated cytoskeletonGO:00147319.1EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeleton organizationGO:00300369.6EPB41, SPTA1
2positive regulation of protein bindingGO:00320929.1EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1structural 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