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Parkinsonian-pyramidal syndrome
2 OMIM references -
2 associated genes
105 connected diseases
No signs/symptoms info
Disease Type of connection
Young adult-onset Parkinsonism
Distal hereditary motor neuropathy type 2
Genetic recurrent myoglobinuria
Isolated cytochrome C oxidase deficiency
Leber hereditary optic neuropathy
MELAS syndrome
Maternally-inherited Leigh syndrome
Autosomal dominant nonsyndromic intellectual deficit
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
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
Infantile dystonia-parkinsonism
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Catecholaminergic polymorphic ventricular tachycardia
Alpha-crystallinopathy
Distal 22q11.2 microdeletion syndrome
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Cerebellar ataxia - hypogonadism
Early-onset generalized limb-onset dystonia
Myoclonus-dystonia syndrome
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
X-linked epilepsy - learning disabilities - behavior disorders
Autosomal recessive primary microcephaly
Cowden syndrome
Huntington disease
Juvenile Huntington disease
Proteus syndrome
Familial advanced sleep-phase syndrome
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Amyotrophic lateral sclerosis
Autosomal thrombocytopenia with normal platelets
Congenital stationary night blindness
Oguchi disease
Autoimmune lymphoproliferative syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant macrothrombocytopenia
Autosomal recessive systemic lupus erythematosus
Baraitser-Winter syndrome
Common variable immunodeficiency
Dedifferentiated liposarcoma
Developmental malformations - deafness - dystonia
Familial melanoma
Glycogen storage disease due to LAMP-2 deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Inflammatory myofibroblastic tumor
Isolated CoQ-cytochrome C reductase deficiency
Lesch-Nyhan syndrome
Split hand-split foot malformation
Translocation renal cell carcinoma
Well-differentiated liposarcoma
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Berardinelli-Seip congenital lipodystrophy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Intermediate nemaline myopathy
Limited cutaneous systemic sclerosis
Severe congenital nemaline myopathy
Typical nemaline myopathy
X-linked non-syndromic intellectual deficit
Autosomal recessive dopa-responsive dystonia
17p13.3 microduplication syndrome
Acral self-healing collodion baby
Bathing suit ichthyosis
Congenital non-bullous ichthyosiform erythroderma
Distal 17p13.3 microdeletion syndrome
Lamellar ichthyosis
Lissencephaly due to TUBA1A mutation
Miller-Dieker syndrome
Pulverulent cataract
Self-healing collodion baby
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Bifunctional enzyme deficiency
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Perrault syndrome
Synonym(s):
- Pallidopyramidal syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FBXO7 Q9Y3I1605648
SNCA P37840163890
No signs/symptoms info available.