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Parkinsonian-pyramidal syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Lesch-Nyhan syndrome
2 OMIM references -
1 associated gene
11 signs/symptoms
Parkinsonian-pyramidal syndrome
Lesch-Nyhan syndrome

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
Lesch-Nyhan syndrome
HPRT1



Parkinsonian-pyramidal syndrome
Lesch-Nyhan syndrome

Synonym(s):
- Pallidopyramidal syndrome
Synonym(s):
- HPRT complete deficiency
- HPRT deficiency grade IV
- Hypoxanthine guanine phosphoribosyltransferase complete deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D007926
Lesch-Nyhan syndrome

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
- Hematuria / microhematuria
- Renal failure



Parkinsonian-pyramidal syndrome

(no data available)