Details of Disease

General Information of Disease (ID: DIS2SL6J)

Disease Name Glycogen storage disease Ib
Synonyms
Gsd1C; GSD Ic; GSD1C; glycogen storage disease due to G6P deficiency type IB; GSD Ib; glycogen storage disease type 1b; glucose-6-phosphate transport defect; glycogen storage disease Ic; glycogen storage disease type IB; GSD type 1 non a; glycogen storage disease Ib; glycogenosis due to glucose-6-phosphatase deficiency type 1B; GSD1B; glycogenosis type IB; GSD due to G6P deficiency type IB; GSD due to G6PT deficiency; glycogenosis due to glucose-6-phosphatase transport defect type IB; GSD type 1b; glycogenosis type 1b; G6P translocase deficiency; glycogen storage disease type Ic; G6P deficiency type IB; GSDIb; GSD type IB; glycogen storage disease type I non-a; G6PT deficiency
Definition A type of glycogenosis due to G6P deficiency.|Type Ic was merged with Ib because they involve the same gene.
Disease Hierarchy
DISZ74WG: Constitutional neutropenia
DISA9APD: Glycogen storage disease type 1 due to SLC37A4 mutation
DIS2SL6J: Glycogen storage disease Ib
Disease Identifiers
MONDO ID
MONDO_0009288
MESH ID
C562594
UMLS CUI
C0268146
OMIM ID
232220
MedGen ID
78644
SNOMED CT ID
30102006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC37A4 TT1KPBZ Limited Biomarker [1]
G6PC TTBQMJ8 Strong Biomarker [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC37A4 DTLHZFU Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
G6PC3 DEE1B8O Strong Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRAPPC4 OT3THRCA Strong CausalMutation [4]
SLC37A4 OTLCYA32 Definitive Autosomal recessive [2]
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References

1 Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function.FEBS Lett. 2020 Jan;594(1):3-18. doi: 10.1002/1873-3468.13666. Epub 2019 Nov 22.
2 Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. Genet Mol Biol. 2013 Dec;36(4):502-6. doi: 10.1590/S1415-47572013000400007. Epub 2013 Nov 8.
3 Inborn errors of metabolite repair.J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29.
4 Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. Ann Lab Med. 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261.