Details of Disease

General Information of Disease (ID: DIS487SI)

Disease Name	Hereditary haemolytic anemia
Synonyms	anemia hemolytic congenital; anaemia hemolytic congenital; hereditary hemolytic anemia; hereditary hemolytic anaemia; congenital hemolytic anemia; congenital hemolytic anaemia
Disease Class	3A20-3A2Z: Haemolytic anemia
Definition	A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.
Disease Hierarchy	DIS803XQ: Hemolytic anemia DISYKSRF: Genetic disease DIS487SI: Hereditary haemolytic anemia
ICD Code	ICD-11 ICD-11: 3A10.3 ICD-10 ICD-10: D58.8 Expand ICD-11 '; '3A10.3 Expand ICD-10 'D58.8
Disease Identifiers	MONDO ID MONDO_0003689 MESH ID D000745 UMLS CUI C0002881 MedGen ID 1919 HPO ID HP:0004804 SNOMED CT ID 38911009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Avacopan	DM5LQHB	Approved	NA	[1]
Mitapivat	DMXI8X0	Approved	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
G6PD	TTKN8W0	Limited	Genetic Variation	[3]
GPI	TT19JIZ	Limited	Biomarker	[4]
ADA	TTLP57V	Strong	Biomarker	[5]
RHD	TTLCKI8	Definitive	Biomarker	[6]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Limited	Genetic Variation	[7]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDOA	OTWRFTIB	Strong	Biomarker	[8]
ATP11C	OTKMV2K5	Strong	Genetic Variation	[9]
CDAN1	OTCVZRG6	Strong	Genetic Variation	[10]
FOXI1	OT2UFOE2	Strong	Biomarker	[7]
SPTA1	OT1YMP65	Strong	Genetic Variation	[3]
RHCE	OTS18IZ5	Definitive	Biomarker	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	FDA Approved Drug Products from FDA Official Website. 2022. Application Number: 216196.
3	Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.Int J Hematol. 2018 Sep;108(3):306-311. doi: 10.1007/s12185-018-2482-7. Epub 2018 Jun 23.
4	Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.J Clin Pathol. 2019 Jan;72(1):81-85. doi: 10.1136/jclinpath-2018-205420. Epub 2018 Oct 18.
5	Erythrocyte adenosine deaminase overproduction in hereditary hemolytic anemia.Blood. 1989 Jul;74(1):448-53.
6	Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood. 1998 Jul 15;92(2):664-71.
7	Silencing of Odorant-Binding Protein Gene OBP3 Using RNA Interference Reduced Virus Transmission of Tomato Chlorosis Virus.Int J Mol Sci. 2019 Oct 9;20(20):4969. doi: 10.3390/ijms20204969.
8	Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. Proc Natl Acad Sci U S A. 1987 Dec;84(23):8623-7. doi: 10.1073/pnas.84.23.8623.
9	Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.J Biol Chem. 2019 Apr 26;294(17):6809-6821. doi: 10.1074/jbc.RA118.007270. Epub 2019 Mar 8.
10	Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.Int J Hematol. 2013 May;97(5):650-3. doi: 10.1007/s12185-013-1338-4. Epub 2013 Apr 19.