Details of Disease | DrugMAP

General Information of Disease (ID: DIS98CZR)

Disease Name	Isolated sedoheptulokinase deficiency
Synonyms	SHPKD; sedoheptulokinase deficiency; isolated SHPK deficiency
Disease Hierarchy	DISR5M3F: Inborn disorder of pentose phosphate metabolism DIS98CZR: Isolated sedoheptulokinase deficiency
Disease Identifiers	MONDO ID MONDO_0014969 UMLS CUI C1291373 OMIM ID 617213 MedGen ID 713680 Orphanet ID 440713 SNOMED CT ID 124309005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SHPK	OTJL9S60	Supportive	Autosomal recessive	[1]
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References

1	First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?. J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3.