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Adenine phosphoribosyltransferase deficiency
1 OMIM reference -
1 associated gene
26 connected diseases
7 signs/symptoms
Disease Type of connection
Chuvash erythrocytosis
Von Hippel-Lindau disease
Autosomal dominant hypohidrotic ectodermal dysplasia
Constitutional mismatch repair deficiency syndrome
Fibronectin glomerulopathy
Hereditary nonpolyposis colon cancer
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Short stature due to growth hormone qualitative anomaly
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Hereditary orotic aciduria
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Lesch-Nyhan syndrome
Synonym(s):
- 2,8-dihydroxyadenine urolithiasis
- APRT deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
APRT P07741102600
Very frequent
- Autosomal recessive inheritance
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hematuria / microhematuria
- Renal disease / nephropathy

Occasional
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Recurrent urinary infections
- Renal failure