MCID: PRR007
MIFTS: 36

Perry Syndrome malady

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

Aliases & Classifications for Perry Syndrome

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Perry Syndrome, Aliases & Descriptions:

Name: Perry Syndrome 45 10 19 41 21 47 60
Parkinsonism with Alveolar Hypoventilation and Mental Depression 41 21 47
Perrs 20 22
 
Parkinsonism with Alveolar Hypoventilationmental Depression 19
Perrs Gene 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
perry syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

OMIM45 168605
Orphanet47 178509

Summaries for Perry Syndrome

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OMIM:45 Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset... (168605) more...

MalaCards based summary: 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 tremor, weight loss and abnormality of extrapyramidal motor function. An important gene associated with Perry Syndrome is DCTN1 (dynactin 1), and among its related pathways is Neuroscience. Affiliated tissues include brain and lung, and related mouse phenotype behavior/neurological.

Genetics Home Reference:21 Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.

GeneReviews summary for perry

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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Symptoms by clinical synopsis from OMIM:

168605

Clinical features from OMIM:

168605

Symptoms:

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

HPO human phenotypes related to Perry Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 tremor hallmark (90%) HP:0001337
2 weight loss hallmark (90%) HP:0001824
3 abnormality of extrapyramidal motor function hallmark (90%) HP:0002071
4 respiratory insufficiency hallmark (90%) HP:0002093
5 sleep disturbance hallmark (90%) HP:0002360
6 hallucinations occasional (7.5%) HP:0000738
7 developmental regression occasional (7.5%) HP:0002376
8 hypotension occasional (7.5%) HP:0002615
9 autosomal dominant inheritance HP:0000006
10 mask-like facies HP:0000298
11 vertical supranuclear gaze palsy HP:0000511
12 depression HP:0000716
13 inappropriate behavior HP:0000719
14 apathy HP:0000741
15 dysarthria HP:0001260
16 parkinsonism HP:0001300
17 tremor HP:0001337
18 weak voice HP:0001621
19 weight loss HP:0001824
20 abnormality of metabolism/homeostasis HP:0001939
21 rigidity HP:0002063
22 bradykinesia HP:0002067
23 respiratory insufficiency HP:0002093
24 hypoventilation HP:0002791
25 rapidly progressive HP:0003678
26 central hypoventilation HP:0007110
27 short stepped shuffling gait HP:0007311
28 insomnia HP:0100785

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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MalaCards organs/tissues related to Perry Syndrome:

31
Brain, Lung

Animal Models for Perry Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Perry Syndrome:

35
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 13)
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
Autonomic failures in Perry syndrome with DCTN1 mutation. (20702129)
2010
7
Elucidating the genetics and pathology of Perry syndrome. (19732908)
2010
8
DCTN1 mutations in Perry syndrome. (19136952)
2009
9
Pallidonigral TDP-43 pathology in Perry syndrome. (18723384)
2009
10
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. (17870652)
2008
11
Neurodegeneration involving putative respiratory neurons in Perry syndrome. (17576579)
2008
12
Perry Syndrome (20945553)
1993
13
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). (3536333)
1986

Variations for Perry Syndrome

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UniProtKB/Swiss-Prot 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
6DCTN1p.Phe52LeuVAR_071452
7DCTN1p.Tyr78CysVAR_071453

Clinvar genetic disease variations for Perry Syndrome:

6
id Gene Variation 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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Search GEO for disease gene expression data for Perry Syndrome.

Pathways for genes affiliated with Perry Syndrome

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Pathways related to Perry Syndrome according to GeneCards Suite gene sharing:

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082198.6TARDBP, GRN, DCTN1

Products for genes affiliated with Perry Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Perry Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet