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Progressive non-fluent aphasia

1 OMIM reference -
6 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

Progressive non-fluent aphasia

Alpha-1-antitrypsin deficiency

C9ORF72	(UniProt - OMIM)		SERPINA1	(UniProt - OMIM)
CHMP2B	(UniProt - OMIM)
GRN	(UniProt - OMIM)
MAPT	(UniProt - OMIM)
PSEN1	(UniProt - OMIM)
VCP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VCP	(0.63)	SERPINA1

Citations in the biomedical literature:

Progressive non-fluent aphasia		Alpha-1-antitrypsin deficiency
	Synonym(s): - Agramatic variant of PPA - Agramatic variant of primary progressive aphasia - Non-fluent variant PPA		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-5 / 10 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D057178		External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896

Alpha-1-antitrypsin deficiency
	Very frequent - Autosomal recessive inheritance - Emphysema - Hepatocellular liver disease / hepatic failure Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Nephrotic syndrome
Progressive non-fluent aphasia
(no data available)