Details of Disease | DrugMAP

General Information of Disease (ID: DISV80FH)

Disease Name	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
Synonyms	FHEIG; FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
Disease Hierarchy	DISYKSRF: Genetic disease DISV80FH: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
Disease Identifiers	MONDO ID MONDO_0032714 UMLS CUI C5193066 OMIM ID 618381 MedGen ID 1679105 Orphanet ID 598603

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNK4	DTK2TVF	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNK4	OT2BFRNY	Strong	Autosomal dominant	[1]
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References

1	Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.