PARK7
MCID: PRK021
MIFTS: 28
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Parkinson Disease 7, Autosomal Recessive Early-Onset (PARK7)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Parkinson Disease 7, Autosomal Recessive Early-Onset:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
slow progression onset before age 40 years good response to l-dopa initially HPO:32
parkinson disease 7, autosomal recessive early-onset:
Onset and clinical course adult onset slow progression Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Muscle diseases |
UniProtKB/Swiss-Prot
:
75
Parkinson disease 7: A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease).
MalaCards based summary : Parkinson Disease 7, Autosomal Recessive Early-Onset, also known as parkinson disease 7, is related to parkinson disease, late-onset and early-onset parkinson's disease, and has symptoms including bradykinesia, resting tremor and muscle rigidity. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase). The drugs Becaplermin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are anxiety and psychotic episodes Disease Ontology : 12 A Parkinson's disease that has material basis in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
Description from OMIM:
606324
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:606324Human phenotypes related to Parkinson Disease 7, Autosomal Recessive Early-Onset:32 (show all 7)
UMLS symptoms related to Parkinson Disease 7, Autosomal Recessive Early-Onset:bradykinesia, resting tremor, muscle rigidity, static tremor |
Drugs for Parkinson Disease 7, Autosomal Recessive Early-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Parkinson Disease 7, Autosomal Recessive Early-Onset:41
Lung
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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 7, Autosomal Recessive Early-Onset:75
ClinVar genetic disease variations for Parkinson Disease 7, Autosomal Recessive Early-Onset:6 (show all 27)
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Search
GEO
for disease gene expression data for Parkinson Disease 7, Autosomal Recessive Early-Onset.
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