ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
1 associated gene
11 signs/symptoms

Adenine phosphoribosyltransferase deficiency

Lesch-Nyhan syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.49)	HPRT1

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Lesch-Nyhan syndrome
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		Synonym(s): - HPRT complete deficiency - HPRT deficiency grade IV - Hypoxanthine guanine phosphoribosyltransferase complete deficiency - Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV

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

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D007926


COMMON SIGNS	- Hematuria / microhematuria - Renal failure

Adenine phosphoribosyltransferase deficiency		Lesch-Nyhan syndrome
	Very frequent - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections		Very frequent - Arthritis / synovitis / synovial proliferation - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hyperuricemia - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Anaemia