Details of Disease

Disease Name

Dehydrated hereditary stomatocytosis

xerocytosis hereditary; Desiccytosis hereditary; hereditary xerocytosis

Definition

Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.

Disease Hierarchy

DIS4TC4I: Hereditary stomatocytosis

DISGQT6H: Dehydrated hereditary stomatocytosis

Disease Identifiers

MONDO ID

MONDO_0017910

MESH ID

C536764

UMLS CUI

C0272051

MedGen ID

124415

Orphanet ID

3202

SNOMED CT ID

715526002

General Information of Disease (ID: DISGQT6H)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNN4	TT7M9I6	Supportive	Autosomal dominant	[1]
CDA	TTQ12RK	Strong	Genetic Variation	[2]
LCT	TTA0OSE	Strong	Biomarker	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Supportive	Autosomal dominant	[4]
SLC4A1	DTB0Q3P	Strong	GermlineCausalMutation	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP2C18	DEZMWRE	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNN4	OTQKQ346	Supportive	Autosomal dominant	[1]
PIEZO1	OTBG1FU4	Supportive	Autosomal dominant	[6]
SLC4A1	OT3EFUK8	Supportive	Autosomal dominant	[4]
ADD1	OTTF68DC	Strong	Genetic Variation	[7]
ADD2	OTRCPCD2	Strong	Genetic Variation	[7]
ERFE	OTSES1HA	Strong	Altered Expression	[8]
STOM	OTC8R6EH	Strong	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DOT(s)

References

1	A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.
2	Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.Int J Hematol. 2019 Nov;110(5):618-626. doi: 10.1007/s12185-019-02716-9. Epub 2019 Aug 10.
3	Su salud a la mano (your health at hand): patient perceptions about a bilingual patient portal in the Los Angeles safety net.J Am Med Inform Assoc. 2019 Dec 1;26(12):1525-1535. doi: 10.1093/jamia/ocz115.
4	Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet. 2005 Nov;37(11):1258-63. doi: 10.1038/ng1656. Epub 2005 Oct 9.
5	Influence of genetic and non-genetic factors on phenytoin-induced severe cutaneous adverse drug reactions.Eur J Clin Pharmacol. 2017 Jul;73(7):855-865. doi: 10.1007/s00228-017-2250-2. Epub 2017 Apr 8.
6	Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood. 2012 Aug 30;120(9):1908-15. doi: 10.1182/blood-2012-04-422253. Epub 2012 Apr 23.
7	Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.Am J Hematol. 1999 Jan;60(1):72-4. doi: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8.
8	Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.Am J Hematol. 2020 Feb;95(2):188-197. doi: 10.1002/ajh.25683. Epub 2019 Dec 9.