MCID: PRR007
MIFTS: 25

Perry Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Perry Syndrome

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MalaCards based summary: Perry Syndrome, also known as parkinsonism with alveolar hypoventilation and mental depression, is related to bradyopsia and brunsting-perry syndrome. An important gene associated with Perry Syndrome is DCTN1 (dynactin 1), and among its related pathways is Neuroscience. Related mouse phenotype behavior/neurological.

GeneReviews summary for perry

Aliases & Classifications for Perry Syndrome

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Perry Syndrome, Aliases & Descriptions:

Name: Perry Syndrome 19 42 20 22 21 62
Parkinsonism with Alveolar Hypoventilation and Mental Depression 42 21
 
Parkinsonism with Alveolar Hypoventilationmental Depression 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Related Diseases for Perry Syndrome

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Graphical network of diseases related to Perry Syndrome:



Diseases related to perry syndrome

Symptoms for Perry Syndrome

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Drugs & Therapeutics for Perry Syndrome

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Drug clinical trials:

Search ClinicalTrials for Perry Syndrome

Search NIH Clinical Center for Perry Syndrome

Genetic Tests for Perry Syndrome

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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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Animal Models for Perry Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Perry Syndrome:

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

Publications for Perry Syndrome

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Articles related to Perry Syndrome:

(show all 14)
idTitleAuthorsYear
1
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. (24500497)
2014
2
Three families with Perry syndrome from distinct parts of the world. (24881494)
2014
3
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. (24484619)
2014
4
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. (23628468)
2013
5
Transcranial sonography in Perry syndrome. (19505837)
2010
6
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. (20437543)
2010
7
Autonomic failures in Perry syndrome with DCTN1 mutation. (20702129)
2010
8
Elucidating the genetics and pathology of Perry syndrome. (19732908)
2010
9
DCTN1 mutations in Perry syndrome. (19136952)
2009
10
Pallidonigral TDP-43 pathology in Perry syndrome. (18723384)
2009
11
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. (17870652)
2008
12
Neurodegeneration involving putative respiratory neurons in Perry syndrome. (17576579)
2008
13
Perry Syndrome (20945553)
1993
14
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). (3536333)
1986

Variations for Perry Syndrome

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Clinvar genetic disease variations for Perry Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1DCTN1NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu)single nucleotide variantPathogenicrs67586389GRCh37Chr 2, 74605194: 74605194
2DCTN1NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala)single nucleotide variantPathogenicrs67586389GRCh37Chr 2, 74605194: 74605194
3DCTN1NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro)single nucleotide variantPathogenicrs72466486GRCh37Chr 2, 74605192: 74605192
4DCTN1NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenicrs72466485GRCh37Chr 2, 74605195: 74605195
5DCTN1NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro)single nucleotide variantPathogenicrs72466487GRCh37Chr 2, 74605185: 74605185

Expression for genes affiliated with Perry Syndrome

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Expression patterns in normal tissues for genes affiliated with Perry Syndrome

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Pathways for genes affiliated with Perry Syndrome

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Pathways related to Perry Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0TARDBP, TPH1

Compounds for genes affiliated with Perry Syndrome

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GO Terms for genes affiliated with Perry Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet