Details of Disease | DrugMAP

General Information of Disease (ID: DISGBIQY)

Disease Name	Fryns syndrome
Synonyms	Moerman Van den Berghe Fryns syndrome; diaphragmatic hernia, abnormal face, and distal limb anomalies; FRNS; diaphragmatic hernia-abnormal face-distal limb anomalies syndrome; Fryns syndrome
Definition	Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISGBIQY: Fryns syndrome
Disease Identifiers	MONDO ID MONDO_0009253 MESH ID C538070 UMLS CUI C0220730 OMIM ID 229850 MedGen ID 65088 Orphanet ID 2059 SNOMED CT ID 702432006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIGN	OTHHTJKX	Supportive	Autosomal recessive	[1]
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References

1	Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6.