Details of Disease

General Information of Disease (ID: DISF77WN)

Disease Name Martsolf syndrome
Disease Hierarchy
DISMDAR3: RAB18 deficiency
DISF77WN: Martsolf syndrome
Disease Identifiers
MONDO ID
MONDO_0023910
MESH ID
C536028
UMLS CUI
C0796037
MedGen ID
208658
SNOMED CT ID
722380003

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
RAB3GAP1 OT4DQ8F2 moderate GermlineCausalMutation [1]
NOLC1 OTKDZU0D Strong Genetic Variation [2]
RAB3GAP2 OTQTE0GI Strong Genetic Variation [3]
RBL2 OTBQSOE6 Strong Genetic Variation [2]
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References

1 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.
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.