MCID: PRR007
MIFTS: 34

Perry Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Perry Syndrome

About this section
Sources:
48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 168605

GeneReviews summary for perry

Aliases & Classifications for Perry Syndrome

About this section
Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
perry syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

perry syndrome 20 44 21 23 22 48 50 63
parkinsonism with alveolar hypoventilation and mental depression 44 22 50
parkinsonism with alveolar hypoventilationmental depression 20


External Ids:

OMIM48 168605

Related Diseases for Perry Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Perry Syndrome:



Diseases related to perry syndrome

Symptoms for Perry Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

168605

Clinical features from OMIM:

168605

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Perry Syndrome:

id Genetic test Affiliating Genes
1 Perry Syndrome21 23 DCTN1

Anatomical Context for Perry Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Perry Syndrome:

34
Lung

Animal Models for Perry Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Perry Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0TARDBP, GRN, DCTN1, TPH1

Publications for Perry Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Perry Syndrome:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 5Cell Signaling Technology
See all sources

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

About this section

GO Terms for genes affiliated with Perry Syndrome

About this section
Sources:
17Gene 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Perry Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet