| Descriptor English: | Glycogen Storage Disease Type IV | ||||||
| Descriptor Spanish: |
Enfermedad del Almacenamiento de Glucógeno Tipo IV
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| Descriptor Portuguese: | Doença de Depósito de Glicogênio Tipo IV | ||||||
| Descriptor French: | Glycogénose de type IV | ||||||
| Entry term(s): |
Amylopectinoses Amylopectinosis Andersen Disease Andersen's Disease Andersens Disease Brancher Deficiencies Brancher Deficiency Deficiencies, Brancher Deficiencies, Gbe1 Deficiency, Brancher Deficiency, Gbe1 Disease, Andersen Disease, Andersen's Gbe1 Deficiencies Gbe1 Deficiency Glycogen Branching Enzyme Deficiency Glycogen Storage Disease Type 4 Glycogenoses, Type IV Glycogenosis 4 Glycogenosis 4s Glycogenosis IV Glycogenosis IVs Glycogenosis, Type IV Type IV Glycogenoses Type IV Glycogenosis |
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| Tree number(s): |
C16.320.565.202.449.540 C18.452.648.202.449.540 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006011 | ||||||
| Scope note: | 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. |
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| Annotation: | do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Glucosyltransferases/metabolism (1966-1974) Glycogenosis (1966-1974) Liver Diseases (1966-1974) |
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| Public MeSH Note: | 1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 see GLYCOGENOSIS 1975-1988 |
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| History Note: | 1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 4 use GLYCOGENOSIS 1975-1988 |
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| Entry Version: | GLYCOGEN STORAGE DIS IV |
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| DeCS ID: | 24394 | ||||||
| Unique ID: | D006011 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1974/12/12 | ||||||
| Revision Date: | 2012/07/03 |
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Glycogen Storage Disease Type IV
- Preferred
| Concept UI |
M0009472 |
| Scope note | 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. |
| Preferred term | Glycogen Storage Disease Type IV |
| Entry term(s) |
Amylopectinoses Amylopectinosis Andersen Disease Andersen's Disease Andersens Disease Brancher Deficiencies Brancher Deficiency Deficiencies, Brancher Deficiencies, Gbe1 Deficiency, Brancher Deficiency, Gbe1 Disease, Andersen Disease, Andersen's Gbe1 Deficiencies Gbe1 Deficiency Glycogen Branching Enzyme Deficiency Glycogen Storage Disease Type 4 Glycogenoses, Type IV Glycogenosis 4 Glycogenosis 4s Glycogenosis IV Glycogenosis IVs Glycogenosis, Type IV Type IV Glycogenoses Type IV Glycogenosis |
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