Details of Disease | DrugMAP

General Information of Disease (ID: DISURG05)

Disease Name	Carey-Fineman-Ziter syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISURG05: Carey-Fineman-Ziter syndrome
Disease Identifiers	MONDO ID MONDO_0031415 MESH ID C536102 UMLS CUI C1850746 MedGen ID 338115 Orphanet ID 1358 SNOMED CT ID 429753001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYMK	OTJZE032	Strong	Genetic Variation	[1]
STAC3	OTPY3BGK	Strong	Genetic Variation	[2]
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References

1	Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.Hum Mol Genet. 2018 Oct 15;27(20):3542-3554. doi: 10.1093/hmg/ddy268.
2	Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.