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Parkinsonian-pyramidal syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Parkinsonian-pyramidal syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency

FBXO7
(UniProt - OMIM)
 HPRT1
(UniProt - OMIM)
SNCA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SNCA
(0.63)
HPRT1


Citations in the biomedical literature:


Parkinsonian-pyramidal syndrome
FBXO7 SNCA
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
HPRT1



Parkinsonian-pyramidal syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Synonym(s):
- Pallidopyramidal syndrome
Synonym(s):
- HPRT deficiency, grade I
- HPRT partial deficiency
- HPRT-related gout
- HPRT-related hyperuricemia
- HPRT1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
- Kelley-Seegmiller syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.