Details of Disease | DrugMAP

General Information of Disease (ID: DISA78DX)

Disease Name	RFT1-congenital disorder of glycosylation
Synonyms	congenital disorder of glycosylation, type In; CDGIN; RFT1-CDG (CDG-In); CDG in; congenital disorder of glycosylation type 1n; CDG1N; congenital disorder of glycosylation type In; CDG syndrome type In; RFT1-congenital disorder of glycosylation; RFT1-CDG; carbohydrate deficient glycoprotein syndrome type In; CDG-In; Man5GlcNAc2-PP-Dol flippase deficiency
Definition	RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DISMFQKM: Developmental anomaly of metabolic origin DIST8BQR: Disorder of protein N-glycosylation DISA78DX: RFT1-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0012783 MESH ID C567437 UMLS CUI C2677590 OMIM ID 612015 MedGen ID 383145 Orphanet ID 244310 SNOMED CT ID 733084000

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
SLC39A8	DTLPQGT	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MOGS	OT99MBGB	Strong	Genetic Variation	[3]
RFT1	OTW82NET	Strong	Autosomal recessive	[4]
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References

1	A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.
2	A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Hum Mol Genet. 2016 Jun 1;25(11):2182-2193. doi: 10.1093/hmg/ddw085. Epub 2016 Apr 5.
3	Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.Am J Hum Genet. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
4	Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet. 2008 Mar;82(3):600-6. doi: 10.1016/j.ajhg.2007.12.021. Epub 2008 Feb 28.