Details of Disease

General Information of Disease (ID: DISKS8QN)

• Disease Name: Molybdenum cofactor deficiency
• Synonyms: molybdenum cofactor deficiency; combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; MOCOD
• Disease Class: 5B5K: Mineral deficiency
• Definition: Editor note: DO class is more general
• Disease Hierarchy:
  DISAI4D0: Encephalopathy due to sulfite oxidase deficiency
  DIS0HB59: Inborn metal metabolism disorder
  DISKS8QN: Molybdenum cofactor deficiency
• ICD Code:
  ICD-11: ICD-11: 5B5K.A
  ICD-10: ICD-10: E00-E90
• Disease Identifiers:
  MONDO ID: MONDO_0020480
  MESH ID: C535811
  UMLS CUI: C0268119
  MedGen ID: 75652
  HPO ID: HP:0003570
  Orphanet ID: 99732
  SNOMED CT ID: 29692004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Fosdenopterin	DMR0TYK	Approved	Small molecular drug	[1]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
ALXN1101	DM36HBS	Phase 2/3	NA	[2]
ORGN001	DMJ5N9L	Phase 2/3	NA	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MOCS1	TTH13AB	Strong	Biomarker	[4]
XDH	TT7RJY8	Strong	Biomarker	[5]
ADK	TTL732K	Definitive	Altered Expression	[6]
AOX1	TT3MOS2	Definitive	Biomarker	[7]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPHN	OTAKK1SV	Strong	Genetic Variation	[8]
MOCS2	OTSPV7AX	Strong	Genetic Variation	[9]
SUOX	OTEJQ9FC	Strong	Biomarker	[10]
ADSL	OTSNJALL	Definitive	Altered Expression	[6]
KIF1A	OT3JVEGV	Definitive	Genetic Variation	[11]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2021
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] ClinicalTrials.gov (NCT02629393) Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A. U.S. National Institutes of Health.
• [4] A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.J Inherit Metab Dis. 2018 Mar;41(2):187-196. doi: 10.1007/s10545-018-0138-7. Epub 2018 Jan 24.
• [5] Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.Int J Mol Sci. 2012 Nov 21;13(11):15475-95. doi: 10.3390/ijms131115475.
• [6] Inborn errors of purine metabolism: clinical update and therapies.J Inherit Metab Dis. 2014 Sep;37(5):669-86. doi: 10.1007/s10545-014-9731-6. Epub 2014 Jun 28.
• [7] An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.J Inherit Metab Dis. 2009 Aug;32(4):560-9. doi: 10.1007/s10545-009-1151-7. Epub 2009 Jun 20.
• [8] Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.
• [9] The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.Pediatr Neurol. 2019 Oct;99:55-59. doi: 10.1016/j.pediatrneurol.2019.04.021. Epub 2019 May 3.
• [10] Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22.
• [11] Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9.