Details of Disease | DrugMAP

General Information of Disease (ID: DISERYCZ)

Disease Name	AICA-ribosiduria
Synonyms	AICAR transformylase/IMP cyclohydrolase deficiency; Aica-Ribosuria due to Atic deficiency; Atic deficiency; 5-amino-4-imidazole carboxamide ribosiduria; ATIC deficiency; AICA-ribosiduria due to ATIC deficiency
Definition	AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DIS2BIP8: Congenital nervous system disorder DISMFQKM: Developmental anomaly of metabolic origin DISEYSYY: Hereditary macular dystrophy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISERYCZ: AICA-ribosiduria
Disease Identifiers	MONDO ID MONDO_0012099 MESH ID C563876 UMLS CUI C1837530 OMIM ID 608688 MedGen ID 332474 Orphanet ID 250977 SNOMED CT ID 725289009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATIC	TT9NVXQ	Strong	Biomarker	[1]
ATIC	TT9NVXQ	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATIC	OT8XE052	Definitive	Autosomal recessive	[1]
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References

1	AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. doi: 10.1086/421475. Epub 2004 Apr 26.