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encyclopedia of Rare Disease Annotation for Precision Medicine

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	forbes disease

Disease ID	803
Disease	forbes disease
Definition	An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Synonym	agl deficiency amylo 1,6 glucosidase deficiency amylo-1,6-glucosidase deficiencies amylo-1,6-glucosidase deficiency cori dis cori disease cori disease, type iii cori's disease coris dis coris disease debrancher defic debrancher deficiencies debrancher deficiencies, glycogen debrancher deficiency debrancher deficiency glycogen storage disease debrancher deficiency, glycogen debrancher enzyme deficiency debrancher glycogen storage disease defic debrancher deficiencies, amylo-1,6-glucosidase deficiencies, debrancher deficiencies, glycogen debrancher deficiency of debranching enzyme deficiency, amylo-1,6-glucosidase deficiency, debrancher deficiency, glycogen debrancher dextrinoses, limit dextrinosis, limit disease, cori disease, cori's disease, forbes forbes dis forbes' disease gde deficiency glycogen debrancher deficiencies glycogen debrancher deficiency glycogen debranching enzyme defic glycogen debranching enzyme deficiency glycogen storage dis iii glycogen storage disease iii glycogen storage disease type 3 glycogen storage disease type iii glycogen storage disease type iii [disease/finding] glycogen storage disease, type iii glycogen storage disease, type iii (disorder) glycogenosis 03 glycogenosis 3 glycogenosis 3s glycogenosis type iii gsd iii gsd3 limit dextrin - glycogen limit dextrinoses limit dextrinosis
Orphanet	ORPHANET:366
OMIM	OMIM:232400
DOID	DOID:2748
ICD10	ICD10CM:E74.03
UMLS	C0017922
MeSH	D006010
SNOMED-CT	SNOMEDCT_US_2016_09_01:66937008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0878544 \| cardiomyopathy \| 2 C0023895 \| hepatic disease \| 1 C0029134 \| optic neuritis \| 1 C0010068 \| coronary artery disease \| 1 C0023890 \| cirrhosis \| 1 C0023890 \| liver cirrhosis \| 1 C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 178 \| AGL \| CLINVAR;CTD_human;ORPHANET;UNIPROT 2632 \| GBE1 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 178 \| AGL \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:4) 796 \| CALCA \| 1.256 \| DISEASES 2632 \| GBE1 \| 3.228 \| DISEASES 2641 \| GCG \| 1.884 \| DISEASES 56980 \| PRDM10 \| 1.142 \| DISEASES
Locus	(Waiting for update.)

Disease ID	803
Disease	forbes disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0001638 \| Cardiomyopathy \| 2 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0005181 \| Premature coronary artery disease \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0004416 \| Precocious atherosclerosis \| 1 HP:0001394 \| Hepatic cirrhosis \| 1

Disease ID	803
Disease	forbes disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0878544 \| cardiomyopathy \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:29)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113994126	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99851058	C	T
rs113994127	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99851059	AG	-
rs113994128	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99875394	C	T
rs113994129	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99881329	G	A
rs113994130	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99884612	C	T
rs113994131	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99902776	C	A,T
rs113994132	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99913542	T	-
rs113994134	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99916705	T	-
rs193186112	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99861676	C	T
rs199922945	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99880047	G	T
rs267606639	19834502	178	AGL	umls:C0017922	BeFree	Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.	0.58031199	2009	AGL	1	99900712	A	G
rs267606640	18924225	178	AGL	umls:C0017922	BeFree	Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.	0.58031199	2008	AGL;LOC101930120	1	99913557	G	A
rs369973784	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99916398	A	G
rs370792293	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99864592	A	G
rs387906244	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99921581	-	A
rs771961377	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99861538	C	T
rs776977863	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99900717	C	A,G
rs781580050	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99861520	C	T
rs786204481	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99884119	G	A
rs786204489	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99861514	C	T
rs786204490	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99896323	G	A
rs786204595	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99915424	A	-
rs786204616	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99876565	-	G
rs786204655	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL;LOC101930120	1	99915448	-	A
rs786204678	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99876558	G	-
rs794727051	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99877702	T	-
rs794727706	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99864460	TTAG	-
rs794729208	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99864536	T	A
rs794729209	NA	178	AGL	umls:C0017922	CLINVAR	NA	0.58031199	NA	AGL	1	99875455	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	803
Disease	forbes disease
Case	(Waiting for update.)