Details of Disease | DrugMAP

General Information of Disease (ID: DISU46FI)

Disease Name	SLC39A8-CDG
Synonyms	CDG IIn; CDG-IIn; SLC39A8 deficiency; congenital disorder of glycosylation type IIn; congenital disorder of glycosylation, type IIn; CDG syndrome type IIn; congenital disorder of glycosylation type 2n; CDG2N; carbohydrate deficient glycoprotein syndrome type IIn
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISMFQKM: Developmental anomaly of metabolic origin DISOV08L: Central nervous system malformation DISEMWE1: Congenital disorder of glycosylation type II DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIST8BQR: Disorder of protein N-glycosylation DISU46FI: SLC39A8-CDG
Disease Identifiers	MONDO ID MONDO_0014746 UMLS CUI C4225234 OMIM ID 616721 MedGen ID 899837 Orphanet ID 468699 SNOMED CT ID 1187171005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A8	DTLPQGT	Strong	Autosomal recessive	[1]
SLC39A8	DTLPQGT	Strong	Genetic Variation	[2]
SLC30A10	DTYBI73	Definitive	Genetic Variation	[2]
SLC39A14	DTZ6IJW	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC39A8	OT6C6MNV	Strong	Autosomal recessive	[1]
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References

1	Comparison of subcutaneous soluble human insulin and insulin analogues (AspB9, GluB27; AspB10; AspB28) on meal-related plasma glucose excursions in type I diabetic subjects. Diabetes Care. 1991 Jul;14(7):571-7. doi: 10.2337/diacare.14.7.571.
2	Genetic Disorders of Manganese Metabolism.Curr Neurol Neurosci Rep. 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y.