ODCs

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Progressive non-fluent aphasia

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

PROTEIN INTERACTIONS: 1

Glutaryl-CoA dehydrogenase deficiency

1 OMIM reference -
1 associated gene
34 signs/symptoms

Progressive non-fluent aphasia

Glutaryl-CoA dehydrogenase deficiency

C9ORF72	(UniProt - OMIM)	GCDH	(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)	PSEN1	(0.72)	GCDH

Citations in the biomedical literature:

Progressive non-fluent aphasia		Glutaryl-CoA dehydrogenase deficiency
	Synonym(s): - Agramatic variant of PPA - Agramatic variant of primary progressive aphasia - Non-fluent variant PPA		Synonym(s): - GA1 - GCDHD - Glutaric acidemia type 1 - Glutaric aciduria type 1 - Glutaryl-coenzyme A dehydrogenase deficiency

	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 -

	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: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D057178		External references: 1 OMIM reference - 1 MeSH reference: C536833

Glutaryl-CoA dehydrogenase deficiency
	Very frequent - Autosomal recessive inheritance - Dystonia / torticollis / writer's cramp / blepharospasms - Encephalitis - Hyperkinesia / dyskinesia - Large fontanelle / delayed fontanelle closure - Metabolic anomalies - Nausea / vomiting / regurgitation / merycism / hyperemesis Frequent - Chorea / athetosis / choreoathetosis / choreic syndrome - Extrapyramidal syndrome - Facial dysmorphism - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Frontal bossing / prominent forehead - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Joint / articular deformation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Movement disorder - Structural anomalies of the nervous system Occasional - Abnormal eye movements / oculomotor disorder - Abnormal gait - Dizziness - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Malignant hyperthermia - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Retinal vascular anomalies / retinal telangiectasia - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Transient cerebral ischemia / stroke
Progressive non-fluent aphasia
(no data available)