MCID: HRD012
MIFTS: 46

Hereditary Elliptocytosis malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Hereditary Elliptocytosis

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Aliases & Descriptions for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 10 45 12
Elliptocytosis, Hereditary 36 24 65
Congenital Elliptocytosis 10
 
Elliptocytosis Hereditary 47
Ovalocytosis 10

Classifications:



External Ids:

Disease Ontology10 DOID:2373
ICD1027 D58.1
ICD9CM29 282.1
MeSH36 D004612
UMLS65 C0013902

Summaries for Hereditary Elliptocytosis

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NIH Rare Diseases:45 Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). affected individuals can also have an enlarged spleen. treatment is usually not necessary unless severe anemia occurs. surgery to remove the spleen may decrease the rate of red blood cell damage. last updated: 5/20/2011

MalaCards based summary: Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis and ovalocytosis, southeast asian. An important gene associated with Hereditary Elliptocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include skin, eye and spleen, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:10 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.

Wikipedia:68 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

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Graphical network of the top 20 diseases related to Hereditary Elliptocytosis:



Diseases related to hereditary elliptocytosis

Symptoms for Hereditary Elliptocytosis

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Drugs & Therapeutics for Hereditary Elliptocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Hereditary Elliptocytosis


Cochrane evidence based reviews: elliptocytosis, hereditary

Genetic Tests for Hereditary Elliptocytosis

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Anatomical Context for Hereditary Elliptocytosis

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MalaCards organs/tissues related to Hereditary Elliptocytosis:

33
Skin, Eye, Spleen, Lung, Breast, Endothelial, T cells

Animal Models for Hereditary Elliptocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ANK1, EPB41, SPTA1, SPTB
2MP:00053678.4ANK1, EPB41, SLC4A1, SPTA1, SPTB
3MP:00053857.9ADD3, ANK1, SLC4A1, SPTA1, SPTB
4MP:00053767.4ANK1, EPB41, RHD, SLC4A1, SPTA1, SPTB
5MP:00053976.9ADD3, ANK1, EPB41, RHD, SLC4A1, SPTA1

Publications for Hereditary Elliptocytosis

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Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Anesthesia for the Endovascular Management of Aortic Disease. (26967802)
2016
2
Activation of the Liver X Receptor by Agonist TO901317 Improves Hepatic Insulin Resistance via Suppressing Reactive Oxygen Species and JNK Pathway. (25909991)
2015
3
Mayo clinic experience of lung transplantation in pulmonary lymphangioleiomyomatosis. (26321137)
2015
4
Microscopic Polyangiitis Manifesting as Lymphoma. (24564595)
2014
5
The relationships between type 2 diabetic retinopathy and VEGF-634G/C and VEGF-460C/T polymorphisms in Han Chinese subjects. (25217793)
2014
6
Pentraxin 3 as a prognostic biomarker in patients with systemic inflammation or infection. (25530683)
2014
7
Intra ventricular glioblastoma. (25404962)
2014
8
Age, glomerular filtration rate, ejection fraction, and the AGEF score predict contrast-induced nephropathy in patients with acute myocardial infarction undergoing primary percutaneous coronary intervention. (23703775)
2013
9
Cardio-protection by Ginkgo biloba extract 50 in rats with acute myocardial infarction is related to Naa8_-CaA^a8_ exchanger. (23895152)
2013
10
SMG6 cleavage generates metastable decay intermediates from nonsense-containing I^-globin mRNA. (24086375)
2013
11
Multiple recurrent mutations at four human Y-chromosomal single nucleotide polymorphism sites in a 37 bp sequence tract on the ARSDP1 pseudogene. (23810651)
2013
12
Purtscher-like retinopathy and primary hypereosinophilic syndrome association. (25389731)
2012
13
Study of regulatory T-cells in patients with gastric malt lymphoma: influence on treatment response and outcome. (23284739)
2012
14
Vital capacity in spinal muscular atrophy. (22469873)
2012
15
Lymphomatoid granulomatosis treated successfully with rituximab in a renal transplant patient. (21559262)
2011
16
Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome. (22132985)
2011
17
Adverse effects of multidrug-resistant tuberculosis treatment with a standardized regimen: a report from Iran. (20019591)
2011
18
Bruxism: is it a new sign of the cardiovascular diseases? (22288297)
2011
19
Puromycin-sensitive aminopeptidase: an antiviral prodrug activating enzyme. (19969024)
2010
20
Oxytocin stimulates expression of a noncoding RNA tumor marker in a human neuroblastoma cell line. (20149803)
2010
21
Platelet-rich plasma for treatment of Achilles tendinopathy. (20442382)
2010
22
Congenital tracheal stenosis masquerading as asthma in an adolescent: the value of spirometry. (19224867)
2009
23
PTTG overexpression promotes lymph node metastasis in human esophageal squamous cell carcinoma. (19351864)
2009
24
Chlamydia pneumoniae induces THP-1-derived foam cell formation by up-regulating the expression of acyl-coenzyme A: cholesterol acyltransferase 1]. (19781220)
2009
25
Alveolar rhabdomyosarcoma of the paranasal sinuses. (20614299)
2008
26
Human immunodeficiency virus type 1 protease cleaves procaspase 8 in vivo. (17442709)
2007
27
EFCBP1/NECAB1, a brain-specifically expressed gene with highest abundance in temporal lobe, encodes a protein containing EF-hand and antibiotic biosynthesis monooxygenase domains. (17364817)
2007
28
New staging system for sinonasal inverted papilloma in the endoscopic era. (17632914)
2007
29
The epigenome of testicular germ cell tumors. (18042148)
2007
30
The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors. (17521702)
2007
31
Complex formation of the laminin-5 gamma2 chain and large unspliced tenascin-C in oral squamous cell carcinoma in vitro and in situ: implications for sequential modulation of extracellular matrix in the invasive tumor front. (16344911)
2006
32
Retinal vasculitis--an initial presentation of systemic lupus erythematosus. (17388013)
2006
33
Scurvy: a disease almost forgotten. (16911372)
2006
34
The MAP kinase pathway is required for entry into mitosis and cell survival. (14737111)
2004
35
Insulin glargine: an updated review of its use in the management of diabetes mellitus. (12904090)
2003
36
Tiotidine, a histamine H2 receptor inverse agonist that binds with high affinity to an inactive G-protein-coupled form of the receptor. Experimental support for the cubic ternary complex model. (12869657)
2003
37
Lack of association of the Glu298Asp polymorphism of endothelial nitric oxide synthase with manifest coronary artery disease, carotid atherosclerosis and forearm vascular reactivity in two Austrian populations. (12641536)
2003
38
Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer. (12402341)
2002
39
Systemic distribution of steroid sulfatase and estrogen sulfotransferase in human adult and fetal tissues. (12466383)
2002
40
A signaling pathway leading to metastasis is controlled by N-cadherin and the FGF receptor. (12398894)
2002
41
Delayed recovery of diabetic chorea following correction of hyperglycemia. (12242567)
2002
42
Role of serum angiotensin converting enzyme in sarcoidosis. (9813973)
1998
43
Interleukin-6 and the acute phase response during treatment of patients with Paget's disease with the nitrogen-containing bisphosphonate dimethylaminohydroxypropylidene bisphosphonate. (7572320)
1995
44
Secretory pattern of metabolic hormones in the lactating sow. (7890020)
1994
45
Influence of rapid correction of metabolic acidosis on serum osteocalcin level in chronic renal failure. (8555554)
1994
46
Role of endothelin-1 in regulating proliferation of cultured rabbit airway smooth muscle cells. (1415557)
1992
47
Complications of foot surgery. Wound dehiscence, hypertrophic scars, and keloids. (2059927)
1991
48
Carotenemia. (3318296)
1987
49
Malignant Leydig cell tumor in a 94-year-old man. (470029)
1979
50
Early skeletal release in the infant with craniofacial dysostosis: the role of the sphenozygomatic suture. (693662)
1978

Variations for Hereditary Elliptocytosis

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Expression for genes affiliated with Hereditary Elliptocytosis

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Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for genes affiliated with Hereditary Elliptocytosis

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Pathways related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ANK1, SPTA1, SPTB
29.1ANK1, SPTA1, SPTB

GO Terms for genes affiliated with Hereditary Elliptocytosis

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Cellular components related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of the cytoplasmic side of the plasma membraneGO:003123510.4SPTA1, SPTB
2spectrinGO:000809110.0EPB41, SPTA1, SPTB
3basolateral plasma membraneGO:00163239.8ANK1, SLC4A1
4membraneGO:00160207.7ADD3, EPB41, GYPC, RHD, SLC4A1

Biological processes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:00320929.7EPB41, SPTA1

Molecular functions related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.8SPTA1, SPTB

Sources for Hereditary Elliptocytosis

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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