Details of Disease

General Information of Disease (ID: DISQYJP5)

• Disease Name: Hereditary spherocytosis
• Synonyms: congenital spherocytosis; spherocytic anemia; spherocytic anaemia; congenital spherocytic hemolytic anaemia; hereditary spherocytosis; Minkowski Chauffard syndrome; Minkowski-Chauffard disease; congenital spherocytic hemolytic anemia
• Definition: Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DISQYJP5: Hereditary spherocytosis
• Disease Identifiers:
  MONDO ID: MONDO_0019350
  UMLS CUI: C0037889
  MedGen ID: 52450
  Orphanet ID: 822
  SNOMED CT ID: 55995005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CAD	TT2YT1K	Limited	Biomarker	[1]
DHODH	TTLVP78	Limited	Biomarker	[1]
UMPS	TTAFJUD	Limited	Biomarker	[1]
ABCB11	TTUXCAF	Strong	Genetic Variation	[2]
UGT1A1	TT34ZAF	Strong	Biomarker	[3]
ANK1	TTKFPMH	Definitive	Autosomal dominant	[4]
G6PD	TTKN8W0	Definitive	Genetic Variation	[5]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Supportive	Autosomal dominant	[6]
SLC26A6	DTVGOLN	Strong	Genetic Variation	[7]
SLC26A7	DTOTME4	Strong	Genetic Variation	[7]
SLC4A1	DTB0Q3P	Strong	Genetic Variation	[8]

This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	Strong	Genetic Variation	[9]
UGT1A10	DEL5N6Y	Strong	Biomarker	[10]
UGT1A4	DELOY3P	Strong	Biomarker	[10]
UGT1A6	DESD26P	Strong	Biomarker	[10]
UGT1A7	DEZO4N3	Strong	Biomarker	[10]
UGT1A8	DE2GB8N	Strong	Biomarker	[10]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPB42	OTKJND3Z	Supportive	Autosomal dominant	[6]
SLC4A1	OT3EFUK8	Supportive	Autosomal dominant	[6]
SPTA1	OT1YMP65	Supportive	Autosomal dominant	[6]
SPTB	OT1Q9ABM	Supportive	Autosomal dominant	[6]
BCAM	OTHZOPSD	Strong	Biomarker	[11]
DMTN	OTDTKPBW	Strong	Genetic Variation	[12]
EMC10	OTQ6S50X	Strong	Genetic Variation	[13]
GYPA	OTABU4YV	Strong	Genetic Variation	[14]
GYPB	OTESHUIX	Strong	Genetic Variation	[15]
GYPE	OTBHAG6A	Strong	Genetic Variation	[15]
HFE	OTDD93KB	Strong	Genetic Variation	[16]
KLF1	OT1FK08U	Strong	Genetic Variation	[17]
MPP1	OTA2ENZQ	Strong	Biomarker	[18]
SLC26A8	OTNCW8RJ	Strong	Genetic Variation	[7]
SPRR2A	OT62ZU6B	Strong	Genetic Variation	[19]
TBP	OT6C0S52	Strong	Genetic Variation	[20]
ANK1	OTU79URK	Definitive	Autosomal dominant	[4]

References

• [1] Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents.Br J Haematol. 1979 Jul;42(3):381-90. doi: 10.1111/j.1365-2141.1979.tb01146.x.
• [2] Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.Z Gastroenterol. 2011 Aug;49(8):977-80. doi: 10.1055/s-0031-1273368. Epub 2011 Aug 2.
• [3] Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report.Mol Med Rep. 2018 Jan;17(1):382-387. doi: 10.3892/mmr.2017.7867. Epub 2017 Oct 25.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [5] Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.Br J Haematol. 2020 Mar;188(5):784-795. doi: 10.1111/bjh.16244. Epub 2019 Oct 10.
• [6] 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.
• [7] Hereditary spherocytosis (HS) due to loss of anion exchange transporter.Haematologica. 1992 Nov-Dec;77(6):450-6.
• [8] Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.Acta Haematol. 2018;139(1):60-66. doi: 10.1159/000486229. Epub 2018 Jan 22.
• [9] De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub 2019 Feb 18.
• [10] Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II.Yonsei Med J. 2011 Mar;52(2):369-72. doi: 10.3349/ymj.2011.52.2.369.
• [11] Role of Lu/BCAM glycoproteins in red cell diseases.Transfus Clin Biol. 2010 Sep;17(3):143-7. doi: 10.1016/j.tracli.2010.06.002. Epub 2010 Jul 23.
• [12] Loss of heterozygosity on 8p in prostate cancer implicates a role for dematin in tumor progression.Cancer Genet Cytogenet. 1999 Nov;115(1):65-9. doi: 10.1016/s0165-4608(99)00081-3.
• [13] Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency.Blood. 2004 Apr 15;103(8):3233-40. doi: 10.1182/blood-2003-08-2813. Epub 2003 Dec 30.
• [14] Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.Biochem J. 2009 Jul 15;421(3):345-56. doi: 10.1042/BJ20090345.
• [15] Glycophorin A: Band 3 aid.Blood Cells Mol Dis. 2008 Jul-Aug;41(1):35-43. doi: 10.1016/j.bcmd.2008.01.001. Epub 2008 Mar 4.
• [16] Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis.Int Heart J. 2018 Mar 30;59(2):427-430. doi: 10.1536/ihj.17-160. Epub 2018 Mar 20.
• [17] Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model.Genomics. 2010 Nov;96(5):303-7. doi: 10.1016/j.ygeno.2010.07.009. Epub 2010 Aug 5.
• [18] Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes.J Mol Diagn. 2018 May;20(3):326-333. doi: 10.1016/j.jmoldx.2018.01.009. Epub 2018 Feb 21.
• [19] Hereditary spherocytosis associated with mutations in HFE gene.Ann Hematol. 2003 Dec;82(12):769-72. doi: 10.1007/s00277-003-0733-y. Epub 2003 Sep 5.
• [20] Genome-wide detection of a TFIID localization element from an initial human disease mutation.Nucleic Acids Res. 2011 Mar;39(6):2175-87. doi: 10.1093/nar/gkq1035. Epub 2010 Nov 11.