MCID: PRR007
MIFTS: 26

Perry Syndrome malady

Neuronal category

Summaries for Perry Syndrome

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Perry Syndrome, also known as parkinsonism with alveolar hypoventilation and mental depression, is related to bradyopsia and brunsting-perry syndrome, and has symptoms including sleep and vigilance disorders, hypotension and tremor. An important gene associated with Perry Syndrome is DCTN1 (dynactin 1), and among its related pathways is Neuroscience. Related mouse phenotype behavior/neurological.

Description from OMIM:47 168605

GeneReviews summary for perry

Aliases & Classifications for Perry Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
perry syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

perry syndrome 19 43 20 22 21 47 49 61
parkinsonism with alveolar hypoventilation and mental depression 43 21 49
parkinsonism with alveolar hypoventilationmental depression 19


External Ids:

OMIM47 168605

Related Diseases for Perry Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Perry Syndrome:



Diseases related to perry syndrome

Clinical Features for Perry Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

168605

Clinical synopsis from OMIM:

168605

Symptoms:

49 (show all 14)
  • sleep and vigilance disorders
  • hypotension
  • tremor
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • psychic/psychomotor regression/dementia/intellectual decline
  • early death/lethality
  • psychic/behavioural troubles
  • delirium/hallucination
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • psychosis/schizophrenia/maniac disorder
  • extrapyramidal syndrome
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia

Drugs & Therapeutics for Perry Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Perry Syndrome

Drug clinical trials:

Search ClinicalTrials for Perry Syndrome

Search NIH Clinical Center for Perry Syndrome

Search CenterWatch for Perry Syndrome

Genetic Tests for Perry Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Perry Syndrome:

id Genetic test Affiliating Genes
1 Perry Syndrome20 22 DCTN1

Anatomical Context for Perry Syndrome

Animal Models for Perry Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Perry Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0TPH1, TARDBP, GRN, DCTN1

Publications for Perry Syndrome

Sources:
51PubMed
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Articles related to Perry Syndrome:

(show all 11)
idTitleAuthorsYear
1
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. (23628468)
2013
2
Transcranial sonography in Perry syndrome. (19505837)
2010
3
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. (20437543)
2010
4
Autonomic failures in Perry syndrome with DCTN1 mutation. (20702129)
2010
5
Elucidating the genetics and pathology of Perry syndrome. (19732908)
2010
6
DCTN1 mutations in Perry syndrome. (19136952)
2009
7
Pallidonigral TDP-43 pathology in Perry syndrome. (18723384)
2009
8
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. (17870652)
2008
9
Neurodegeneration involving putative respiratory neurons in Perry syndrome. (17576579)
2008
10
Perry Syndrome (20945553)
1993
11
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). (3536333)
1986

Genetic Variations for Perry Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Perry Syndrome:

63
id Symbol AA change Variation SNP ID
1DCTN1p.Gly71AlaVAR_063867
2DCTN1p.Gly71GluVAR_063868
3DCTN1p.Gly71ArgVAR_063869
4DCTN1p.Thr72ProVAR_063870
5DCTN1p.Gln74ProVAR_063871

Expression for genes affiliated with Perry Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Perry Syndrome

Search GEO for disease gene expression data for Perry Syndrome.

Pathways for genes affiliated with Perry Syndrome

Sources:
4Cell Signaling Technology
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Pathways related to Perry Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TPH1, TARDBP

Compounds for genes affiliated with Perry Syndrome

GO Terms for genes affiliated with Perry Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Perry Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.6TARDBP, GRN, DCTN1

Products for genes affiliated with Perry Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Perry Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet