Details of Disease | DrugMAP

General Information of Disease (ID: DISYP8Y8)

Disease Name	Hereditary cryohydrocytosis with reduced stomatin
Synonyms	GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis; SDCHCN; stomatin-deficient cryohydrocytosis with neurologic defects; cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly; cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly; stomatin-deficient cryohydrocytosis; ChC type 2; sdCHC; hereditary cryohydrocytosis type 2
Disease Hierarchy	DIS487SI: Hereditary haemolytic anemia DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption DIS4TC4I: Hereditary stomatocytosis DISYP8Y8: Hereditary cryohydrocytosis with reduced stomatin
Disease Identifiers	MONDO ID MONDO_0012143 MESH ID C563840 UMLS CUI C1837206 OMIM ID 608885 MedGen ID 332390 Orphanet ID 168577

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
SLC2A1	TT79TKF	Limited	CausalMutation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	DTG3T6X	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	OTA675TJ	Supportive	Autosomal dominant	[2]
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References

1	Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.Epilepsy Behav. 2014 Aug;37:241-8. doi: 10.1016/j.yebeh.2014.06.018. Epub 2014 Aug 9.
2	Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77. doi: 10.1182/blood-2010-12-326645. Epub 2011 Jul 26.