PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: PARK7
Number of Symptoms 13
OrphanetNr:
OMIM Id: 606324
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000643) Blepharospasm 20 / 7739
2
(HPO:0000739) Anxiety 67 / 7739
3
(HPO:0002174) Postural tremor 22 / 7739
4
(HPO:0002063) Rigidity 92 / 7739
5
(HPO:0000725) Psychotic episodes 6 / 7739
6
(HPO:0002322) Resting tremor 14 / 7739
7
(HPO:0002067) Bradykinesia 62 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Muscular rigidity 2 / 7739
10
(OMIM) Blepharospasm may occur 1 / 7739
11
(HPO:0003677) Slow progression 134 / 7739
12
(OMIM) 'Neurotic' signs and symptoms 1 / 7739
13
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Duijn et al. (2001) reported a consanguineous family from a genetically isolated community in the southwestern region of the Netherlands in which 4 individuals had a form of early-onset Parkinson disease. Onset of symptoms was before the ...
Molecular genetics OMIM In the family reported by van Duijn et al. (2001) and in 1 of the families reported by Bonifati et al. (2002), Bonifati et al. (2003) identified mutations in the DJ1 gene that cosegregated with the disease (602533.0001-602533.0002). ...