Details of Disease

General Information of Disease (ID: DIS3H8HJ)

• Disease Name: Glycogen storage disease due to glycogen branching enzyme deficiency
• Synonyms: glycogenosis 4; GSD IV, neuromuscular form, congenital; glycogen branching enzyme deficiency; cirrhosis, familial, with deposition of abnormal glycogen; brancher deficiency; GSD IV; Gbe1 deficiency; GSD IV, classic hepatic; glycogen storage disease IV; GSD IV, neuromuscular form, fatal perinatal; glycogen storage disease 4; GSD 4; GSD IV, nonprogressive hepatic; GSD IV, neuromuscular form, childhood; GSD4; GSD IV, neuromuscular form, adult, with isolated myopathy; glycogen storage disease type IV; GSD due to glycogen branching enzyme deficiency; amylopectinosis; glycogen storage disease, type IV; Andersen disease; deficiency of 1,4-alpha-glucan branching enzyme; GSD type IV; GSD type 4; glycogenosis type IV; glycogenosis type 4; glycogen storage disease caused by mutation in GBE1; Andersen's disease; brancher deficiency glycogenosis; glycogen storage disease type 4; Andersen Disease (GSD IV); GBE1 glycogen storage disease; glycogen storage disease due to glycogen branching enzyme deficiency; branching-transferase deficiency glycogenosis; glycogenosis due to glycogen branching enzyme deficiency
• Definition: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DIS3H8HJ: Glycogen storage disease due to glycogen branching enzyme deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009292
  MESH ID: D006011
  UMLS CUI: C0017923
  OMIM ID: 232500
  MedGen ID: 6642
  Orphanet ID: 367
  SNOMED CT ID: 11179002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
G6PC	TTBQMJ8	Strong	Biomarker	[1]
GAA	TTLPC70	Strong	Biomarker	[1]
KCNJ3	TTGM19J	Strong	Altered Expression	[2]
KCNJ6	TTTIBVP	Strong	Altered Expression	[2]
RBCK1	TTIKUVC	Strong	Genetic Variation	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ12	OTYN1E1R	Strong	Altered Expression	[2]
RNF31	OT4BZONL	Strong	Genetic Variation	[4]
GBE1	OTK2N05B	Definitive	Autosomal recessive	[5]

References

• [1] Acid maltase deficiency and related myopathies.Neurol Clin. 2000 Feb;18(1):151-65. doi: 10.1016/s0733-8619(05)70182-1.
• [2] A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome.Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8430-5. doi: 10.1073/pnas.122682899. Epub 2002 May 28.
• [3] Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection.Elife. 2015 Jan 20;4:e04494. doi: 10.7554/eLife.04494.
• [4] An Update on Autoinflammatory Diseases: Relopathies.Curr Rheumatol Rep. 2018 May 30;20(7):39. doi: 10.1007/s11926-018-0749-x.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.