Details of Disease | DrugMAP

General Information of Disease (ID: DISA71F4)

Disease Name	Hereditary elliptocytosis
Synonyms	hereditary ovalocytosis; HE; Hashimoto Encephalopathy; ovalocytosis; congenital elliptocytosis
Definition	Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Disease Hierarchy	DIS803XQ: Hemolytic anemia DISA71F4: Hereditary elliptocytosis
Disease Identifiers	MONDO ID MONDO_0017319 MESH ID D004612 UMLS CUI C0013902 MedGen ID 41747 Orphanet ID 288 SNOMED CT ID 191169008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CR1	TTEA8OW	moderate	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPB41	OTGCFPV8	Supportive	Autosomal dominant	[3]
GYPC	OTOEDR7O	Supportive	Autosomal dominant	[4]
SPTA1	OT1YMP65	Supportive	Autosomal dominant	[3]
SPTB	OT1Q9ABM	Supportive	Autosomal dominant	[3]
ADD2	OTRCPCD2	Strong	Altered Expression	[5]
AMMECR1	OTWMQ67T	Strong	Biomarker	[6]
EPB42	OTKJND3Z	Strong	Biomarker	[7]
PLA1A	OT2IXYNX	Strong	Biomarker	[8]
------------------------------------------------------------------------------------


⏷ Show the Full List of 8 DOT(s)

References

1	Mechanisms of genetically-based resistance to malaria.Gene. 2010 Nov 1;467(1-2):1-12. doi: 10.1016/j.gene.2010.07.008. Epub 2010 Jul 22.
2	DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders.Int J Hematol. 2005 Jun;81(5):385-95. doi: 10.1532/ijh97.04171.
3	Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013 Jul;27(4):167-78. doi: 10.1016/j.blre.2013.04.003. Epub 2013 May 9.
4	Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. Blood. 1991 Sep 15;78(6):1603-6.
5	Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice.Blood. 2000 Jun 15;95(12):3978-85.
6	Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.Am J Med Genet A. 2019 Apr;179(4):650-654. doi: 10.1002/ajmg.a.61057. Epub 2019 Feb 8.
7	A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.Br J Haematol. 1995 Apr;89(4):762-70. doi: 10.1111/j.1365-2141.1995.tb08413.x.
8	Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis. Blood Cells Mol Dis. 2011 Oct 15;47(3):158-65. doi: 10.1016/j.bcmd.2011.07.001. Epub 2011 Aug 11.