Details of Disease | DrugMAP

General Information of Disease (ID: DISKC6IE)

Disease Name	Yunis-Varon syndrome
Synonyms	YVS; cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia; Yunis-Varon syndrome; cleidocranial dysplasia-micrognathia-absent thumbs syndrome; Yunis-Varn syndrome; cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; Yunis Varon syndrome; Yunis Varon Syndrome
Definition	Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS5Z8U6: Skeletal dysplasia DISKC6IE: Yunis-Varon syndrome
Disease Identifiers	MONDO ID MONDO_0008995 MESH ID C536719 UMLS CUI C1857663 OMIM ID 216340 MedGen ID 341818 Orphanet ID 3472

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
VAC14	OTRUU20W	Supportive	Autosomal recessive	[1]
FIG4	OT501PY9	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MCOLN1	TT9XBVO	Definitive	Biomarker	[1]
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References

1	Yunis-Varn syndrome caused by biallelic VAC14 mutations. Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21.
2	FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant. Mol Syndromol. 2021 Oct;12(6):386-392. doi: 10.1159/000516971. Epub 2021 Aug 27.