PARKINSON DISEASE 4, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY
PARK4
Number of Symptoms 14
OrphanetNr:
OMIM Id: 605543
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:0000726) Dementia 131 / 7739
2
(HPO:0000738) Hallucinations 60 / 7739
3
(HPO:0002459) Dysautonomia 34 / 7739
4
(HPO:0011999) Paranoia 6 / 7739
5
(HPO:0001278) Orthostatic hypotension 24 / 7739
6
(HPO:0001300) Parkinsonism 75 / 7739
7
(HPO:0001824) Weight loss 42 / 7739
8
(HPO:0100315) Lewy bodies 5 / 7739
9
(HPO:0003596) Middle age onset 5 / 7739
10
(HPO:0003678) Rapidly progressive 33 / 7739
11
(OMIM) Hypotension, postural, due to autonomic dysfunction 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Alpha-synuclein immunoreactive neuronal and glial inclusions 1 / 7739
14
(OMIM) Diffuse Lewy body pathology 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spellman (1962) described a family in which multiple members in 4 generations had autosomal dominant parkinsonism beginning in their thirties and progressing rapidly to death in 2 to 12 years. This extended family was of English and German ...
Molecular genetics OMIM By quantitative PCR amplification of SNCA exons in an individual with parkinsonism from the large family reported by Waters and Miller (1994), Singleton et al. (2003) found evidence consistent with whole gene triplication (163890.0003). Analysis of other family ...