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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:glycogen storage disease IV
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Accession:DOID:2750 term browser browse the term
Definition:An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
Synonyms:exact_synonym: Amylopectinosis;   Andersen Disease;   Andersen's Disease;   Andersens Disease;   Brancher Deficiencies;   Brancher Deficiency;   Branching-transferase deficiency glycogenosis;   GSD IV;   GSD due to glycogen branching enzyme deficiency;   GSD4;   Gbe1 Deficiencies;   Gbe1 Deficiency;   Glycogen Branching Enzyme Deficiency;   Glycogen Storage Disease Type 4;   Glycogenosis 4;   Glycogenosis IV;   Type IV Glycogenoses;   amylopectinoses;   brancher deficiency glycogenosis;   deficiency of 1,4-alpha-glucan branching enzyme;   glycogen storage disease due to glycogen branching enzyme deficiency;   glycogen storage disease type IV;   glycogenosis type IV
 narrow_synonym: CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC;   GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY;   GSD IV, NEUROMUSCULAR FORM, CHILDHOOD;   GSD IV, NEUROMUSCULAR FORM, CONGENITAL;   GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL;   GSD IV, NONPROGRESSIVE HEPATIC
 broad_synonym: GBE1-RELATED DISORDER;   GBE1-RELATED DISORDERS
 primary_id: MESH:D006011
 alt_id: OMIM:232500
 xref: GARD:2520;   NCI:C84737;   ORDO:367
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid treatment ISO RGD PMID:27747161 RGD:25671409 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X
ClinVar Annotator: match by term: Glycogen storage disease, type IV
ClinVar Annotator: match by term: Glycogenosis 4
ClinVar Annotator: match by term: GBE1-Related Disorders
ClinVar Annotator: match by OMIM:232500
ClinVar
OMIM
PMID:1375445, PMID:8247964, PMID:8613547, PMID:9851430, PMID:10384399, PMID:10545044, PMID:10762170, PMID:11949934, PMID:12874416, PMID:12913206, PMID:14755501, PMID:15019703, PMID:15452297, PMID:15520786, PMID:16278887, PMID:17662246, PMID:17915577, PMID:17994551, PMID:18230843, PMID:19438752, PMID:19813197, PMID:20058079, PMID:20479904, PMID:20655781, PMID:21917543, PMID:22106711, PMID:22305237, PMID:23034915, PMID:23218673, PMID:23266647, PMID:23607684, PMID:24033266, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25489661, PMID:25544507, PMID:25665141, PMID:25728520, PMID:25741868, PMID:26166723, PMID:26199317, PMID:26385640, PMID:26670585, PMID:26752647, PMID:26789422, PMID:26886200, PMID:27107456, PMID:28492532, PMID:28507268, PMID:28716262, PMID:28973083, PMID:30293248, PMID:30311141, PMID:30311386, PMID:30569318, PMID:31207142, PMID:31209396, PMID:31319225, PMID:8613547 RGD:1601279 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type IV ClinVar NCBI chr 3:147,793,014...147,809,941
Ensembl chr 3:147,793,017...147,809,919
JBrowse link
Familial Cirrhosis with Deposition of Abnormal Glycogen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:8247964, PMID:8613547, PMID:9851430, PMID:10384399, PMID:10762170, PMID:11949934, PMID:15019703, PMID:15452297, PMID:17662246, PMID:20655781, PMID:22106711, PMID:23034915, PMID:23607684, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25665141, PMID:25741868, PMID:26199317, PMID:26385640, PMID:26886200, PMID:28492532, PMID:30311386 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Classic Hepatic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC ClinVar PMID:8613547, PMID:9851430, PMID:10762170, PMID:11949934, PMID:15452297, PMID:20655781, PMID:22106711, PMID:23034915, PMID:23607684, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25665141, PMID:25741868, PMID:26199317, PMID:26385640, PMID:28492532, PMID:30311386 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, combined hepatic and myopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic ClinVar PMID:10545044, PMID:10762170, PMID:12874416, PMID:15452297, PMID:20479904, PMID:28492532 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ClinVar PMID:8613547, PMID:15452297, PMID:26886200, PMID:28492532 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL ClinVar PMID:8059607, PMID:8613547, PMID:15019703, PMID:15452297, PMID:16528737, PMID:17662246, PMID:25741868 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
GSD IV, Neuromuscular Form, Fatal Perinatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple RGD PMID:30303820 RGD:18337290 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            glycogen metabolism disorder 79
              glycogen storage disease 79
                glycogen storage disease IV 3
                  Familial Cirrhosis with Deposition of Abnormal Glycogen 1
                  GSD IV, Classic Hepatic 1
                  GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
                  GSD IV, Neuromuscular Form, Childhood 1
                  GSD IV, Neuromuscular Form, Congenital 1
                  GSD IV, Neuromuscular Form, Fatal Perinatal 1
                  GSD IV, Nonprogressive Hepatic 0
                  GSD IV, combined hepatic and myopathic 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  glycogen storage disease IV 3
                    Familial Cirrhosis with Deposition of Abnormal Glycogen 1
                    GSD IV, Classic Hepatic 1
                    GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
                    GSD IV, Neuromuscular Form, Childhood 1
                    GSD IV, Neuromuscular Form, Congenital 1
                    GSD IV, Neuromuscular Form, Fatal Perinatal 1
                    GSD IV, Nonprogressive Hepatic 0
                    GSD IV, combined hepatic and myopathic 1
paths to the root

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