Details of Disease | DrugMAP

General Information of Disease (ID: DIS8I1SW)

Disease Name	Rafiq syndrome
Synonyms	MRT15; mental retardation, autosomal recessive type 15; CDG2U; autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1; MAN1B1 autosomal recessive non-syndromic intellectual disability; mental retardation, autosomal recessive 15; intellectual disability, autosomal recessive 15; RAFQS
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS8I1SW: Rafiq syndrome
Disease Identifiers	MONDO ID MONDO_0013624 UMLS CUI C3280127 OMIM ID 614202 MedGen ID 481757

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
MAN1B1	OTI780UB	Strong	Autosomal recessive	[1]
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References

1	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.