Details of Disease

General Information of Disease (ID: DISN487G)

Disease Name Lopes-Maciel-Rodan syndrome
Synonyms LOMARS; Lopes-Maciel-Rodan syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISN487G: Lopes-Maciel-Rodan syndrome
Disease Identifiers
MONDO ID
MONDO_0054573
UMLS CUI
C4479491
OMIM ID
617435
MedGen ID
1379711

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
HTT TTIWZ0O moderate Genetic Variation [1]
HTT TTIWZ0O Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HTT OTKN8P85 Strong Autosomal recessive [2]
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References

1 Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6.
2 The role of guanine nucleotides in protein biosynthesis. Biophys J. 1978 Jun;22(3):373-92. doi: 10.1016/S0006-3495(78)85494-0.