MCID: PRR007
MIFTS: 36

Perry Syndrome malady

Neuronal diseases category

Summaries for Perry Syndrome

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Sources:
46OMIM, 19GeneReviews, 32MalaCards
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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 early death/lethality, psychosis/schizophrenia/maniac disorder and delirium/hallucination. An important gene associated with Perry Syndrome is DCTN1 (dynactin 1), and among its related pathways is Neuroscience. Affiliated tissues include lung, and related mouse phenotype behavior/neurological.

Description from OMIM:46 168605

GeneReviews summary for perry

Aliases & Classifications for Perry Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
perry syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

perry syndrome 19 42 20 22 21 46 48 60
parkinsonism with alveolar hypoventilation and mental depression 42 21 48
parkinsonism with alveolar hypoventilationmental depression 19


External Ids:

OMIM46 168605

Related Diseases for Perry Syndrome

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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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

168605

Clinical synopsis from OMIM:

168605

Symptoms:

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

Drugs & Therapeutics for Perry Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Perry Syndrome:

32
Lung

Animal Models for Perry Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Perry Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0TPH1, TARDBP, GRN, DCTN1

Publications for Perry Syndrome

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Sources:
50PubMed
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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

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Perry Syndrome:

62
id Symbol AA change Variation ID SNP ID
1DCTN1p.Gly71AlaVAR_063867
2DCTN1p.Gly71GluVAR_063868
3DCTN1p.Gly71ArgVAR_063869
4DCTN1p.Thr72ProVAR_063870
5DCTN1p.Gln74ProVAR_063871

Expression for genes affiliated with Perry Syndrome

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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

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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

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GO Terms for genes affiliated with Perry Syndrome

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Perry Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet