Details of Disease | DrugMAP

General Information of Disease (ID: DISXXVYH)

Disease Name	Zimmermann-Laband syndrome
Synonyms	gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly; fibromatosis gingival, hepatosplenomegaly other anomalies; Zimmermann-Laband syndrome 1; Zimmerman Laband syndrome; ZLS1; ZLS; Laband-Zimmermann syndrome; gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Zimmermann-Laband syndrome type 1; Laband syndrome
Definition	Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Disease Hierarchy	DISYKSRF: Genetic disease DISXXVYH: Zimmermann-Laband syndrome
Disease Identifiers	MONDO ID MONDO_0000200 MESH ID C536725 UMLS CUI C0796013 MedGen ID 208656 Orphanet ID 3473 SNOMED CT ID 699447001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNH1	TT9XKUC	Supportive	Autosomal recessive	[1]
KCNN3	TT9JH25	Supportive	Autosomal recessive	[2]
KCNN3	TT9JH25	moderate	Genetic Variation	[2]
CACNA2D3	TTN7T29	Strong	Genetic Variation	[3]
KCNH1	TT9XKUC	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNK4	DTK2TVF	Strong	Genetic Variation	[2]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERC2	OTFEDI56	Disputed	Biomarker	[3]
LRTM1	OTF06CMG	Disputed	Genetic Variation	[3]
ATP6V1B2	OTNX2V4Z	Supportive	Autosomal recessive	[1]
KCNH1	OTZZXWER	Supportive	Autosomal recessive	[1]
KCNN3	OT11KYA8	Supportive	Autosomal recessive	[2]
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References

1	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.
2	Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome. Am J Hum Genet. 2019 Jun 6;104(6):1139-1157. doi: 10.1016/j.ajhg.2019.04.012. Epub 2019 May 30.
3	Candidate loci for Zimmermann-Laband syndrome at 3p14.3.Am J Med Genet A. 2007 Jan 15;143A(2):107-11. doi: 10.1002/ajmg.a.31544.
4	De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.J Hum Genet. 2016 May;61(5):381-7. doi: 10.1038/jhg.2016.1. Epub 2016 Jan 28.