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Adenine phosphoribosyltransferase deficiency
1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Muir-Torre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
Adenine phosphoribosyltransferase deficiency
Muir-Torre syndrome

APRT
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APRT
(0.63)
MLH1


Citations in the biomedical literature:


Adenine phosphoribosyltransferase deficiency
APRT
Muir-Torre syndrome
MLH1 MSH2 MSH6



Adenine phosphoribosyltransferase deficiency
Muir-Torre syndrome

Synonym(s):
- 2,8-dihydroxyadenine urolithiasis
- APRT deficiency
Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
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: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D055653
Adenine phosphoribosyltransferase deficiency
Muir-Torre syndrome

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


Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer