PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: PARK13
Number of Symptoms 5
OrphanetNr:
OMIM Id: 610297
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 62 / 7739
2
(HPO:0002548) Parkinsonism with favorable response to dopaminergic medication 13 / 7739
3
(HPO:0002063) Rigidity 92 / 7739
4
(HPO:0001337) Tremor 200 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Strauss et al. (2005) described the phenotype of 4 German PD patients with a mutation in the HTRA2 gene. Clinical symptoms included typical features of PD including bradykinesia, tremor, and muscular rigidity. All symptoms responded well to levodopa ...
Molecular genetics OMIM Using a candidate gene approach based on the phenotype of motor neuron degeneration-2 (mnd2) mice, Strauss et al. (2005) performed a mutation screening of the HTRA2 gene (606441) in 518 German patients with PD. In 4 of the ...