Details of Disease | DrugMAP

General Information of Disease (ID: DISSEZ2V)

Disease Name	Warburg micro syndrome
Synonyms	microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism; microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism; Warburg micro syndrome; WARBM; Warburg-Sjo-Fledelius syndrome; micro syndrome
Definition	Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISMDAR3: RAB18 deficiency DISBCZL7: Lissencephaly spectrum disorders DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISSEZ2V: Warburg micro syndrome
Disease Identifiers	MONDO ID MONDO_0016649 UMLS CUI C5442005 MedGen ID 1781286 Orphanet ID 2510 SNOMED CT ID 772224009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBC1D20	OTDL1T6E	Supportive	Autosomal recessive	[1]
RAB18	OTNMAQLS	Moderate	Autosomal recessive	[2]
RAB3GAP1	OT4DQ8F2	Definitive	Autosomal recessive	[2]
RAB3GAP2	OTQTE0GI	Definitive	Autosomal recessive	[2]
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References

1	Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.