Details of Disease

General Information of Disease (ID: DIS90EI2)

Disease Name Warburg micro syndrome 1
Synonyms
WARBURG micro syndrome 1; micro syndrome; WARBM1; micro syndrome 1; Warburg micro syndrome type 1; Warburg micro syndrome 1; RAB3GAP1 Warburg micro syndrome; Warburg micro syndrome caused by mutation in RAB3GAP1
Definition Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.
Disease Hierarchy
DISSEZ2V: Warburg micro syndrome
DIS90EI2: Warburg micro syndrome 1
Disease Identifiers
MONDO ID
MONDO_0010822
MESH ID
C536681
UMLS CUI
C1838625
OMIM ID
600118
MedGen ID
333142

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RAB7A TTF6WAQ Disputed Biomarker [1]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAB7B OT60A0E9 Disputed Biomarker [1]
CTR9 OTP151PZ Strong Biomarker [2]
ELP1 OTYEWBF7 Strong Biomarker [2]
NOLC1 OTKDZU0D Strong Genetic Variation [2]
PIK3R4 OTRL8QP8 Strong Biomarker [2]
RAB3GAP2 OTQTE0GI Strong Genetic Variation [3]
RBL2 OTBQSOE6 Strong Genetic Variation [2]
TBC1D20 OTDL1T6E Strong Genetic Variation [4]
RAB3GAP1 OT4DQ8F2 Definitive Autosomal recessive [5]
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⏷ Show the Full List of 9 DOT(s)

References

1 Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.Mol Neurobiol. 2019 Sep;56(9):6095-6105. doi: 10.1007/s12035-019-1471-z. Epub 2019 Feb 5.
2 Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome.Methods Enzymol. 2008;438:131-9. doi: 10.1016/S0076-6879(07)38009-9.
3 Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?. Ophthalmic Genet. 2018 Jun;39(3):391-395. doi: 10.1080/13816810.2018.1432065. Epub 2018 Feb 8.
4 Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.Open Biol. 2015 Jun;5(6):150047. doi: 10.1098/rsob.150047.
5 Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters. J Pediatr Neurosci. 2017 Oct-Dec;12(4):360-362. doi: 10.4103/jpn.JPN_45_17.