Details of Disease

General Information of Disease (ID: DISIO6KC)

• Disease Name: Gerstmann-Straussler-Scheinker syndrome
• Synonyms: Gerstmann Straussler Scheinker syndrome; Gerstmann-Straussler disease; encephalopathy subacute spongiform Gerstmann-Straussler type; cerebral amyloid angiopathy, Prnp-related; cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; encephalopathy, Subacute spongiform, Gerstmann-Straussler type; amyloidosis cerebral with spongiform encephalopathy; GSD; amyloidosis, cerebral, with spongiform encephalopathy; cerebellar ataxia, progressive dementia, and amyloid deposits in CNS; prion dementia; subacute spongiform encephalopathy, Gerstmann-Straussler type; Gerstmann-Straussler-Scheinker disease
• Definition: A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.|Editor note: MESH considers as two diseases
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISOUMB0: Prion disease
  DISIO6KC: Gerstmann-Straussler-Scheinker syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007656
  MESH ID: D016098
  UMLS CUI: C0017495
  OMIM ID: 137440
  MedGen ID: 4886
  Orphanet ID: 356
  SNOMED CT ID: 67155006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADRA2A	TTWG9A4	Limited	Genetic Variation	[1]
G6PC	TTBQMJ8	moderate	Biomarker	[2]
ABCG5	TTKZ7WY	Strong	Genetic Variation	[3]
CCKAR	TTCG0AL	Strong	Genetic Variation	[4]
MGAM	TTXWASR	Strong	Biomarker	[2]
PYGM	TTZHY6R	Strong	Genetic Variation	[5]
SLC37A4	TT1KPBZ	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB6	DTF9Y2V	Strong	Genetic Variation	[7]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7A1	DEDZRQ1	Strong	Genetic Variation	[8]
SI	DE5EO4Y	Strong	Biomarker	[2]

This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHKA2	OTJE1KXL	Disputed	Genetic Variation	[9]
ABCG8	OTIJ76XW	moderate	Genetic Variation	[10]
BTD	OTJYTQ69	Strong	Biomarker	[11]
C4BPA	OTHNH6Y8	Strong	Genetic Variation	[7]
CARD14	OTADQHOV	Strong	Genetic Variation	[7]
CDHR5	OTTBWQMN	Strong	Genetic Variation	[12]
ECD	OT3L3PCU	Strong	Genetic Variation	[13]
GBE1	OTK2N05B	Strong	Biomarker	[14]
GCA	OTAJ7ZHG	Strong	Biomarker	[12]
GYG1	OT9PU6I2	Strong	Genetic Variation	[15]
GYS2	OTCKIUYR	Strong	Altered Expression	[16]
MDH1	OTJEO4E8	Strong	Genetic Variation	[17]
MED18	OT6M6CQ8	Strong	Genetic Variation	[18]
NCOA6	OTOMIGTV	Strong	Genetic Variation	[19]
NT5C3A	OT67KZJA	Strong	Genetic Variation	[20]
PLCL1	OTJL2C79	Strong	Genetic Variation	[19]
POLDIP3	OTTB5SV7	Strong	Genetic Variation	[20]
PRDX2	OTLWCY9T	Strong	Genetic Variation	[7]
PYGL	OTS1YFGR	Strong	Genetic Variation	[21]
TSHZ1	OTYQ9ECW	Strong	Genetic Variation	[22]
PRNP	OTE85L1Q	Definitive	Autosomal dominant	[23]

References

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• [8] Genetic variants in CYP7A1 and risk of myocardial infarction and symptomatic gallstone disease.Eur Heart J. 2018 Jun 7;39(22):2106-2116. doi: 10.1093/eurheartj/ehy068.
• [9] Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.Medicine (Baltimore). 2019 Nov;98(46):e17775. doi: 10.1097/MD.0000000000017775.
• [10] Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z.
• [11] Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8.
• [12] Polymorphism at the mucin-like protocadherin gene influences susceptibility to gallstone disease.Clin Chim Acta. 2011 Nov 20;412(23-24):2089-93. doi: 10.1016/j.cca.2011.07.015. Epub 2011 Aug 1.
• [13] Thalamic involvement determined using VSRAD advance on MRI and easy Z-score analysis of (99m)Tc-ECD-SPECT in Gerstmann-Strussler-Scheinker syndrome with P102L mutation.J Neurol Sci. 2017 Feb 15;373:27-30. doi: 10.1016/j.jns.2016.12.021. Epub 2016 Dec 15.
• [14] Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.Mamm Genome. 2004 Jul;15(7):570-7. doi: 10.1007/s00335-004-2369-1.
• [15] Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.J Clin Endocrinol Metab. 2017 Aug 1;102(8):2690-2700. doi: 10.1210/jc.2017-00399.
• [16] Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.Mol Ther. 2018 Jul 5;26(7):1771-1782. doi: 10.1016/j.ymthe.2018.04.023. Epub 2018 Apr 27.
• [17] Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.Biomolecules. 2019 Nov 28;9(12):800. doi: 10.3390/biom9120800.
• [18] Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.Genet Med. 2016 Oct;18(10):1037-43. doi: 10.1038/gim.2015.217. Epub 2016 Feb 25.
• [19] APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.Am J Hum Genet. 1991 Sep;49(3):511-7.
• [20] New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.Eur J Biochem. 2000 Mar;267(6):1533-49. doi: 10.1046/j.1432-1327.2000.01160.x.
• [21] High frequency of missense mutations in glycogen storage disease type VI.J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21.
• [22] Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.Acta Neuropathol. 2010 Feb;119(2):189-97. doi: 10.1007/s00401-009-0609-x. Epub 2009 Nov 13.
• [23] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.