Details of Disease | DrugMAP

General Information of Disease (ID: DIS02NYV)

Disease Name	Fine-Lubinsky syndrome
Synonyms	brachycephaly, deafness, cataract and mental retardation; brachycephaly, deafness, cataract, microstomia, and intellectual disability; brachycephaly, deafness, cataract and intellectual disability; brachycephaly, deafness, cataract, microstomia, and mental retardation; brachycephaly-deafness-cataract-intellectual disability syndrome; fine-Lubinsky syndrome
Definition	A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
Disease Hierarchy	DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS02NYV: Fine-Lubinsky syndrome
Disease Identifiers	MONDO ID MONDO_0011049 MESH ID C537933 UMLS CUI C0795941 OMIM ID 601353 MedGen ID 163198 Orphanet ID 1272 SNOMED CT ID 720955004

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
MAF	OT1GR3IZ	Supportive	Autosomal recessive	[1]
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References

1	Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.