Details of Disease | DrugMAP

General Information of Disease (ID: DISQOWFB)

Disease Name	NAD(P)HX dehydratase deficiency
Synonyms	PEBEL2; ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
Disease Hierarchy	DIS5J2Y6: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy DISCPWH9: Autosomal recessive disease DISO5FAY: Inborn error of metabolism DISQOWFB: NAD(P)HX dehydratase deficiency
Disease Identifiers	MONDO ID MONDO_0034121 UMLS CUI C5193026 OMIM ID 618321 MedGen ID 1681210 Orphanet ID 555402 SNOMED CT ID 1251446004

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
NAXD	OTPO2GM2	Moderate	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.