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Dihydropteridine reductase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Classical phenylketonuria

1 associated gene
23 signs/symptoms

Dihydropteridine reductase deficiency

Classical phenylketonuria

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	QDPR	(0.63)	PAH

Citations in the biomedical literature:

Dihydropteridine reductase deficiency		Classical phenylketonuria
	Synonym(s): - Hyperphenylalaninemia due to dihydropteridine reductase deficiency - PKU type 2 - Phenylketonuria type 2		Synonym(s): - Classic PKU - Classic phenylketonuria - Classical PKU

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537896		External references: No OMIM references No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly

Dihydropteridine reductase deficiency		Classical phenylketonuria
	Very frequent - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia		Very frequent - Abnormal odour of the urine - Aminoacid metabolism anomalies / aminoaciduria - Decreased hair pigmentation / hypopigmentation of hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Psychic / behavioural troubles Frequent - Autism / autistic disoders - Eczema - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Nausea / vomiting / regurgitation / merycism / hyperemesis - Seizures / epilepsy / absences / spasms / status epilepticus - Tremor - Troubles of memory / amnesia / hypermnesia Occasional - Auto-aggressivity / auto-mutilation - Cataract / lens opacification - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Motor deficit / trouble - Tight skin / lack of elasticity