MCID: PRR007
MIFTS: 34

Perry Syndrome malady

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

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Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Perry Syndrome, also known as parkinsonism with alveolar hypoventilation and mental depression, is related to brunsting-perry syndrome and mental depression, 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:47 168605

GeneReviews summary for perry

Aliases & Classifications for Perry Syndrome

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Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS
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Classifications:

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


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 62
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

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Sources:
17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

168605

Clinical features from OMIM:

168605

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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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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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:
33MalaCards
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MalaCards organs/tissues related to Perry Syndrome:

33
Lung

Animal Models for Perry Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Perry Syndrome:

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

Publications for Perry Syndrome

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Sources:
52PubMed
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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

Variations for Perry Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Perry Syndrome:

64
id Symbol AA change Variation ID SNP ID
1DCTN1p.Gly71AlaVAR_063867
2DCTN1p.Gly71GluVAR_063868
3DCTN1p.Gly71ArgVAR_063869
4DCTN1p.Thr72ProVAR_063870
5DCTN1p.Gln74ProVAR_063871

Clinvar genetic disease variations for Perry Syndrome:

1
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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Sources:
2BioGPS, 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:
50PathCards, 5Cell Signaling Technology
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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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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet