PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: PARK11
Number of Symptoms 6
OrphanetNr:
OMIM Id: 607688
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002067) Bradykinesia 18358451 IBIS 62 / 7739
2
(HPO:0002063) Rigidity 18358451 IBIS 92 / 7739
3
(HPO:0002172) Postural instability 18358451 IBIS 22 / 7739
4
(HPO:0002322) Resting tremor 18358451 IBIS 14 / 7739
5
(HPO:0002548) Parkinsonism with favorable response to dopaminergic medication 18358451 IBIS 13 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of 12 unrelated Italian or French families with PD, Lautier et al. (2008) identified 7 different heterozygous mutations in the GIGYF2 gene (see, e.g., 612003.0001-612003.0004). Inheritance was autosomal dominant with evidence of incomplete penetrance. Clinical ...