Details of Disease

General Information of Disease (ID: DIS3GWZK)

Disease Name Zimmermann-Laband syndrome 1
Synonyms
fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly; Laband syndrome; KCNH1 Zimmermann-Laband syndrome; Laband Syndrome; Zimmermann-Laband syndrome 1; ZLS1; Zimmermann-Laband syndrome caused by mutation in KCNH1
Definition Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.
Disease Hierarchy
DISFCDLI: KCNH1 associated disorder
DISXXVYH: Zimmermann-Laband syndrome
DIS3GWZK: Zimmermann-Laband syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024526
UMLS CUI
C4551773
OMIM ID
135500
MedGen ID
1639277

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
KCNH1 TT9XKUC Moderate Autosomal dominant [1]
KCNH1 TT9XKUC Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNH1 OTZZXWER Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27.