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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Adenine phosphoribosyltransferase deficiency

APP APRT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
APRT



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Adenine phosphoribosyltransferase deficiency
APRT



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Adenine phosphoribosyltransferase deficiency

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- 2,8-dihydroxyadenine urolithiasis
- APRT deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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
External references:
1 OMIM reference -
No MeSH references

Adenine phosphoribosyltransferase deficiency

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


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)