Progressive non-fluent aphasia |
Glycogen storage disease due to muscle phosphorylase kinase deficiency |
C9ORF72 | PHKA1 | |||
CHMP2B | PHKG1 | |||
GRN | ||||
MAPT | ||||
PSEN1 | ||||
VCP |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
MAPT | (0.63) | PHKG1 | |
Citations in the biomedical literature:
Progressive non-fluent aphasia |
Glycogen storage disease due to muscle phosphorylase kinase deficiency |
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Synonym(s): - Agramatic variant of PPA- Agramatic variant of primary progressive aphasia - Non-fluent variant PPA | Synonym(s): - GSD due to muscle phosphorylase kinase deficiency- GSD type 9D - GSD type 9E - GSD type IXd - GSD type IXe - Glycogen storage disease type 9D - Glycogen storage disease type 9E - Glycogen storage disease type IXd - Glycogen storage disease type IXe - Glycogenosis due to muscle phosphorylase kinase deficiency - Glycogenosis type 9D - Glycogenosis type 9E - Glycogenosis type IXd - Glycogenosis type IXe | ||
Classification (Orphanet): - Rare genetic disease - Rare neurologic disease | Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease | ||
Classification (ICD10): - Diseases of the nervous system -
| Classification (ICD10): - Endocrine, nutritional and metabolic diseases -
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Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial | Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive | ||
External references: 1 OMIM reference -
1 MeSH reference: D057178 | External references: 1 OMIM reference - No MeSH references | ||