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Progressive non-fluent aphasia

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

PROTEIN INTERACTIONS: 1

Watson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Progressive non-fluent aphasia

Watson syndrome

C9ORF72	(UniProt - OMIM)		NF1	(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	(0.68)	NF1

Citations in the biomedical literature:

Progressive non-fluent aphasia		Watson syndrome
	Synonym(s): - Agramatic variant of PPA - Agramatic variant of primary progressive aphasia - Non-fluent variant PPA		Synonym(s): - Pulmonic stenosis with 'cafe-au-lait' spots

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical cardiac disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D057178		External references: 1 OMIM reference - No MeSH references

Watson syndrome
	Very frequent - Autosomal dominant inheritance - Broad forehead - Cafe-au-lait spot - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Excess nuchal skin without pterygium colli - Excessive freckling - Hypertelorism - Philtrum deeply grooved - Philtrum flat / large / featureless / absent cupidon bows - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Short neck - Short stature / dwarfism / nanism Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Pectus excavatum - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Triangular face - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Hypotonia - Kyphosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Progressive non-fluent aphasia
(no data available)