Details of Disease | DrugMAP

General Information of Disease (ID: DISHR74F)

Disease Name	Luscan-Lumish syndrome
Synonyms	Luscan-Lumish syndrome; LLs; LLs; Luscan-Lumish syndrome; SETD2-related overgrowth syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISHR74F: Luscan-Lumish syndrome
Disease Identifiers	MONDO ID MONDO_0014791 UMLS CUI C4085873 OMIM ID 616831 MedGen ID 898669 Orphanet ID 597738

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
SETD2	TTPC3H4	Strong	Autosomal dominant	[1]
SETD2	TTPC3H4	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SETD2	OTQW463T	Strong	Autosomal dominant	[1]
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References

1	Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.
2	Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.Am J Med Genet A. 2018 May;176(5):1212-1215. doi: 10.1002/ajmg.a.38666.