| Descriptor English: | Glycogen Storage Disease Type VII | ||||||
| Descriptor Spanish: |
Enfermedad del Almacenamiento de Glucógeno Tipo VII
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| Descriptor Portuguese: | Doença de Depósito de Glicogênio Tipo VII | ||||||
| Descriptor French: | Glycogénose de type VII | ||||||
| Entry term(s): |
Deficiencies, Muscle Phosphofructokinase Deficiencies, Pfkm Deficiency, Muscle Phosphofructokinase Deficiency, Pfkm Disease, Tarui Disease, Tarui's GSD VII Glycogen Storage Disease VII Glycogenosis 7 Muscle Phosphofructokinase Deficiencies Muscle Phosphofructokinase Deficiency Pfkm Deficiencies Pfkm Deficiency Phosphofructokinase Deficiencies, Muscle Phosphofructokinase Deficiency, Muscle Tarui Disease Tarui's Disease Taruis Disease |
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| Tree number(s): |
C05.651.534.500.149 C10.668.491.175.500.112 C16.320.565.202.449.600 C16.320.577.149 C18.452.648.202.449.600 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006014 | ||||||
| Scope note: | An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. |
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| Annotation: | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
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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: |
Glycogenosis (1966-1974) |
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| Public MeSH Note: | 91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88 |
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| Online Note: | use GLYCOGEN STORAGE DISEASE TYPE VII to search GLYCOGENOSIS 7 1975-88 |
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| History Note: | 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88 |
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| Entry Version: | GLYCOGEN STORAGE DIS VII |
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| DeCS ID: | 24397 | ||||||
| Unique ID: | D006014 | ||||||
| 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: | 2015/06/22 |
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Glycogen Storage Disease Type VII
- Preferred
| Concept UI |
M0009475 |
| Scope note | An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. |
| Preferred term | Glycogen Storage Disease Type VII |
| Entry term(s) |
Deficiencies, Muscle Phosphofructokinase Deficiencies, Pfkm Deficiency, Muscle Phosphofructokinase Deficiency, Pfkm Disease, Tarui Disease, Tarui's GSD VII Glycogen Storage Disease VII Glycogenosis 7 Muscle Phosphofructokinase Deficiencies Muscle Phosphofructokinase Deficiency Pfkm Deficiencies Pfkm Deficiency Phosphofructokinase Deficiencies, Muscle Phosphofructokinase Deficiency, Muscle Tarui Disease Tarui's Disease Taruis Disease |
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