Details of Disease

General Information of Disease (ID: DISGKSZF)

• Disease Name: Ariboflavinosis
• Synonyms: vitamin B2 deficiency; riboflavin deficiency
• Definition: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS1UUNY: Malnutrition
  DISGKSZF: Ariboflavinosis
• Disease Identifiers:
  MONDO ID: MONDO_0004573
  MESH ID: D012257
  UMLS CUI: C0035528
  MedGen ID: 20573
  HPO ID: HP:0100504
  SNOMED CT ID: 20307000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GSR	TTEP6RV	Strong	Biomarker	[1]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC52A1	DT7NOKR	Limited	Unknown	[2]
SLC52A1	DT7NOKR	Limited	Biomarker	[3]
SLC52A3	DTBVQIO	Limited	Biomarker	[4]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC52A1	OTQ4D276	Limited	Unknown	[2]

References

• [1] Impact and consequences of dietary riboflavin deficiency treatment on flesh quality loss in on-growing grass carp (Ctenopharyngodon idella).Food Funct. 2019 Jun 19;10(6):3396-3409. doi: 10.1039/c8fo01943f.
• [2] Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Mol Genet Metab. 2007 Sep-Oct;92(1-2):109-14. doi: 10.1016/j.ymgme.2007.06.017. Epub 2007 Aug 8.
• [3] An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Mol Genet Metab. 2017 Dec;122(4):182-188.
• [4] Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.Sci Rep. 2016 Jun 8;6:27557. doi: 10.1038/srep27557.