PERRYS
MCID: PRR007
MIFTS: 51

Perry Syndrome (PERRYS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Perry Syndrome

MalaCards integrated aliases for Perry Syndrome:

Name: Perry Syndrome 58 12 25 54 26 60 76 38 30 13 6 45 15 41 74
Parkinsonism with Alveolar Hypoventilation and Mental Depression 58 12 54 26 60 76
Perrys 76

Characteristics:

Orphanet epidemiological data:

60
perry syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
rapid progression
onset in fourth to fifth decade
variable response to levodopa treatment
central hypoventilation occurs late in the disease and is often fatal
variable presentation and manifestations


HPO:

33
perry syndrome:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Although precise estimates have not been calculated given the limited number of families reported, penetrance is age related and high, with all asymptomatic heterozygotes being younger than or within the range of onset age...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Perry Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 178509Disease definitionPerry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.EpidemiologyThe prevalence is unknown. It has been described in 53 cases from 11 families to date in Canada, U.S., U.K., France, Turkey and Japan.Clinical descriptionPerry syndrome has a mean age of onset of 48 years (range 35-61) and presents with parkinsonism (akinetic-rigid and rather symmetric), psychiatric changes manifesting as depression, lethargy, withdrawal, apathy, and changes in character, as well as sleep difficulties. The usual duration of Perry syndrome is about 5 years, with severe weight loss and central hypoventilation being seen late in the disease course. Marked autonomic dysfunction was reported in one family from Japan. Patients are often bedridden or wheelchair bound as motor impairment may be severe at a later stage of the disease.EtiologyPerry syndrome is caused by mutations (five identified to date) in exon 2 of the dynactin DCTN1 gene coding for p150glued, the major subunit of the dynactin protein complex. Mutations in this gene alter the binding affinity of dynactin for microtubules and consequently this leads to the impairment of this important transport protein. Nigral neurons seem to be more affected by the dysfunction of this protein, explaining their increased cell death and the distinct pathology seen in Perry syndrome.Diagnostic methodsDiagnosis is based on clinical findings of early-onset parkinsonism combined with depression, weight loss and hypoventilation and is confirmed by a molecular genetic test finding a mutation in the DCTN1 gene. Major histological findings consist of neuronal loss and TAR DNA-binding protein (TDP-43)-positive pathology in the substantia nigra and locus coeruleus, without Lewy bodies. Sleep studies should be performed to detect hypoventilation.Differential diagnosisThe main differential diagnoses are other forms of familial early-onset parkinsonism (in particular those associated with mutations in the PARK2, PINK1, PARK7 and LRRK2 genes) as well as frontotemporal dementia (see these terms).Antenatal diagnosisAntenatal diagnosis is possible in laboratories that offer custom prenatal testing for families with a known DCTN1 mutation.Genetic counselingPerry syndrome is inherited in an autosomal dominant manner with full penetrance and children of a parent with the disease have a 50% chance of also having the mutation and developing the disease. Pre-symptomatic diagnosis can be offered to at-risk individuals.Management and treatmentThere is no cure for Perry syndrome. Symptomatic treatment requires a multidisciplinary team. Dopaminergic therapy is given to patients to help with parkinsonism, usually using levodopa / carbidopa. Response to levodopa can be erratic or absent but large doses (>2g) have been successful in reducing symptoms in several patients. Patients with hypoventilation require ventilator support (invasive or non-invasive), particularly at night. Respiratory function should be monitored continuously. Psychiatric follow-up along with antidepressant drugs are needed to manage depression and prevent suicide. Weight should be monitored and a high caloric diet should be implemented when weight loss is present. With worsening symptoms hospitalization and major medical assistance is often required.PrognosisPerry syndrome progresses rapidly and the prognosis is poor. Death is due to respiratory insufficiency or suicide or, in some cases, can be sudden and unexplained. Ventilation assistance may prolong survival with an acceptable quality of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Perry Syndrome, also known as parkinsonism with alveolar hypoventilation and mental depression, is related to multiple system atrophy 1 and supranuclear palsy, progressive, 1, and has symptoms including sleeplessness An important gene associated with Perry Syndrome is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neuroscience. Affiliated tissues include brain and testes, and related phenotypes are depressivity and tremor

Disease Ontology : 12 A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Genetics Home Reference : 26 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.

OMIM : 58 Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (Perry et al., 1975). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., 600274) and progressive supranuclear palsy (PSP; 601104). There is intrafamilial variation in the manifestations of the disorder (summary by Caroppo et al., 2014; review by Wider et al., 2010). Mutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; 607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see 105400). (168605)

UniProtKB/Swiss-Prot : 76 Perry syndrome: A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally.

GeneReviews: NBK47027

Related Diseases for Perry Syndrome

Diseases related to Perry Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 29.7 TH SNCA SLC6A3 MAPT
2 supranuclear palsy, progressive, 1 29.5 TH SNCA SLC6A3 MAPT GRN
3 brunsting-perry syndrome 12.3
4 beta-aminoisobutyric aciduria 11.1
5 factor vii deficiency 11.1
6 menarche, age at, quantitative trait locus 1 11.1
7 hyperproinsulinemia 11.1
8 phonagnosia 10.4 TARDBP GRN
9 associative agnosia 10.4 TARDBP GRN
10 writing disorder 10.4 GRN TARDBP
11 hereditary dystonia 10.3 GCH1 TH
12 hyperphenylalaninemia, bh4-deficient, b 10.3 GCH1 TH
13 bullous pemphigoid 10.3
14 segawa syndrome, autosomal recessive 10.3 GCH1 TH
15 gangliocytoma 10.3 C9orf72 TH
16 mutism 10.2 GRN SLC6A3
17 epidermolysis bullosa 10.2
18 epidermolysis bullosa acquisita 10.2
19 von economo's disease 10.2 HCRT SNCA
20 hyperphenylalaninemia 10.2 TPH1 TH GCH1
21 mental depression 10.2
22 amyotrophic lateral sclerosis 18 10.2 C9orf72 TARDBP
23 rem sleep behavior disorder 10.2 SNCA SLC6A3 HCRT
24 kleine-levin hibernation syndrome 10.2 TPH1 SLC6A3 HCRT
25 dystonia, dopa-responsive 10.1 TH SLC6A3 GCH1
26 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.1 GRN MAPT
27 ideomotor apraxia 10.1 GRN MAPT
28 primary lateral sclerosis, adult, 1 10.1 MAPT SNCA
29 cocaine abuse 10.1 SNCA SLC6A3 SLC18A2
30 parkinson disease 3, autosomal dominant 10.1 MAPT SNCA
31 alcohol-induced mental disorder 10.1 NPS SLC6A3
32 postencephalitic parkinson disease 10.1 TARDBP SNCA MAPT
33 nominal aphasia 10.1 TARDBP MAPT GRN
34 somatoform disorder 10.1 TPH1 TAC1 GCH1
35 neurotrophic keratopathy 10.1 TACR1 TAC1
36 agraphia 10.1 TARDBP MAPT GRN
37 spinocerebellar ataxia 23 10.1 NPS TACR1
38 akinetic mutism 10.0 MAPT SLC6A3
39 psychotic disorder 10.0 SLC18A2 SLC6A3 TPH1
40 toxic encephalopathy 10.0 TH SNCA SLC6A3 SLC18A2
41 bipolar disorder 10.0 TPH1 TH SLC6A3 SLC18A2
42 alcoholic psychosis 10.0 NPS SLC6A3
43 progressive non-fluent aphasia 10.0 MAPT GRN C9orf72
44 behavioral variant of frontotemporal dementia 10.0 MAPT GRN C9orf72
45 epicondylitis 10.0 NPS TAC1
46 specific developmental disorder 10.0 TAC1 SLC6A3 GRN
47 mood disorder 10.0 TPH1 TH TACR1 SLC18A2
48 pick disease of brain 9.9 TARDBP SNCA MAPT GRN
49 respiratory failure 9.9
50 cicatricial pemphigoid 9.9

Graphical network of the top 20 diseases related to Perry Syndrome:



Diseases related to Perry Syndrome

Symptoms & Phenotypes for Perry Syndrome

Human phenotypes related to Perry Syndrome:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
2 tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0001337
3 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
4 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
5 parkinsonism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001300
6 apathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000741
7 central hypoventilation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007110
8 hypotension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002615
9 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
10 personality changes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000751
11 dysarthria 33 HP:0001260
12 respiratory insufficiency 33 HP:0002093
13 abnormality of metabolism/homeostasis 33 HP:0001939
14 mask-like facies 33 HP:0000298
15 rigidity 33 HP:0002063
16 abnormality of extrapyramidal motor function 60 Very frequent (99-80%)
17 insomnia 33 HP:0100785
18 weak voice 33 HP:0001621
19 bradykinesia 33 HP:0002067
20 hypoventilation 33 HP:0002791
21 frontotemporal dementia 33 HP:0002145
22 vertical supranuclear gaze palsy 33 HP:0000511
23 inappropriate behavior 33 HP:0000719
24 short stepped shuffling gait 33 HP:0007311

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
respiratory insufficiency
hypoventilation, central

Neurologic Central Nervous System:
insomnia
parkinsonism
dystrophic neurites
frontotemporal dementia, behavioral variant
neuronal loss in the substantia nigra
more
Head And Neck Eyes:
vertical gaze palsy
slowing of vertical saccades

Growth Weight:
weight loss

Neurologic Behavioral Psychiatric Manifestations:
apathy
inappropriate behavior
depression
social withdrawal
dysexecutive behavior

Clinical features from OMIM:

168605

UMLS symptoms related to Perry Syndrome:


sleeplessness

MGI Mouse Phenotypes related to Perry Syndrome:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 C9orf72 DCTN1 GRN HCRT MAF MAPT
2 homeostasis/metabolism MP:0005376 10.22 DCTN1 GCH1 GRN HCRT MAF MAPT
3 growth/size/body region MP:0005378 10.17 C9orf72 GRN HCRT MAF MAPT SLC18A2
4 cellular MP:0005384 10.16 C9orf72 DCTN1 GRN MAPT SLC18A2 SLC6A3
5 cardiovascular system MP:0005385 10.13 GCH1 HCRT MAPT SLC18A2 SNCA TAC1
6 mortality/aging MP:0010768 10.1 C9orf72 DCTN1 DCTN2 GCH1 GRN MAF
7 integument MP:0010771 9.97 MAF MAPT SLC6A3 SNCA TAC1 TACR1
8 nervous system MP:0003631 9.97 C9orf72 DCTN1 GCH1 GRN HCRT MAF
9 muscle MP:0005369 9.8 DCTN1 HCRT MAPT SLC18A2 SLC6A3 TARDBP
10 no phenotypic analysis MP:0003012 9.5 C9orf72 DYNC1I1 GRN MAPT SNCA TARDBP
11 taste/olfaction MP:0005394 8.92 MAPT SLC18A2 SLC6A3 SNCA

Drugs & Therapeutics for Perry Syndrome

Search Clinical Trials , NIH Clinical Center for Perry Syndrome

Cochrane evidence based reviews: perry syndrome

Genetic Tests for Perry Syndrome

Genetic tests related to Perry Syndrome:

# Genetic test Affiliating Genes
1 Perry Syndrome 30 DCTN1

Anatomical Context for Perry Syndrome

MalaCards organs/tissues related to Perry Syndrome:

42
Brain, Testes

Publications for Perry Syndrome

Articles related to Perry Syndrome:

(show all 27)
# Title Authors Year
1
In Reply-Diaphragmatic Pacemaker for Perry Syndrome. ( 29406203 )
2018
2
Behavioral defects in a DCTN1<sup>G71A</sup>transgenic mouse model of Perry syndrome. ( 29273399 )
2018
3
Diaphragmatic Pacemaker for Perry Syndrome. ( 29406204 )
2018
4
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy. ( 29499916 )
2018
5
A case of Perry Syndrome responding to intestinal infusion of carbidopa/levodopa. ( 30377036 )
2018
6
DCTN1-related neurodegeneration: Perry syndrome and beyond. ( 28625595 )
2017
7
Establishing diagnostic criteria for Perry syndrome. ( 29089398 )
2017
8
Dysphagia in Perry Syndrome: Pharyngeal Pressure in Two Cases. ( 28690533 )
2017
9
Reduced TDP-43 Expression Improves Neuronal Activities in a Drosophila Model of Perry Syndrome. ( 28625517 )
2017
10
Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy. ( 28789478 )
2017
11
Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy. ( 28651750 )
2017
12
Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome. ( 27346608 )
2016
13
Impulse control disorders and punding in Perry syndrome. ( 26411500 )
2015
14
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. ( 24500497 )
2014
15
Three families with Perry syndrome from distinct parts of the world. ( 24881494 )
2014
16
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. ( 24484619 )
2014
17
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. ( 23628468 )
2013
18
Elucidating the genetics and pathology of Perry syndrome. ( 19732908 )
2010
19
Transcranial sonography in Perry syndrome. ( 19505837 )
2010
20
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. ( 20437543 )
2010
21
Autonomic failures in Perry syndrome with DCTN1 mutation. ( 20702129 )
2010
22
DCTN1 mutations in Perry syndrome. ( 19136952 )
2009
23
Pallidonigral TDP-43 pathology in Perry syndrome. ( 18723384 )
2009
24
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. ( 17870652 )
2008
25
Neurodegeneration involving putative respiratory neurons in Perry syndrome. ( 17576579 )
2008
26
Perry Syndrome ( 20945553 )
1993
27
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). ( 3536333 )
1986

Variations for Perry Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 DCTN1 p.Gly71Ala VAR_063867 rs67586389
2 DCTN1 p.Gly71Glu VAR_063868 rs67586389
3 DCTN1 p.Gly71Arg VAR_063869 rs72466485
4 DCTN1 p.Thr72Pro VAR_063870 rs72466486
5 DCTN1 p.Gln74Pro VAR_063871 rs72466487
6 DCTN1 p.Phe52Leu VAR_071452 rs886039227
7 DCTN1 p.Tyr78Cys VAR_071453 rs886039229

ClinVar genetic disease variations for Perry Syndrome:

6 (show top 50) (show all 336)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh37 Chromosome 2, 74605231: 74605231
2 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh38 Chromosome 2, 74378104: 74378104
3 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
4 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh38 Chromosome 2, 74361590: 74361590
5 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh37 Chromosome 2, 74594023: 74594023
6 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh38 Chromosome 2, 74366896: 74366896
7 DCTN1 NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh37 Chromosome 2, 74605195: 74605195
8 DCTN1 NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh38 Chromosome 2, 74378068: 74378068
9 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh37 Chromosome 2, 74605185: 74605185
10 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh38 Chromosome 2, 74378058: 74378058
11 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
12 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh38 Chromosome 2, 74378067: 74378067
13 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
14 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh38 Chromosome 2, 74378067: 74378067
15 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh37 Chromosome 2, 74605192: 74605192
16 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh38 Chromosome 2, 74378065: 74378065
17 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh38 Chromosome 2, 74366801: 74366801
18 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh37 Chromosome 2, 74593928: 74593928
19 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh37 Chromosome 2, 74596321: 74596321
20 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh38 Chromosome 2, 74369194: 74369194
21 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh38 Chromosome 2, 74369400: 74369400
22 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh37 Chromosome 2, 74596527: 74596527
23 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh38 Chromosome 2, 74370072: 74370072
24 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh37 Chromosome 2, 74597199: 74597199
25 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh38 Chromosome 2, 74370810: 74370810
26 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh37 Chromosome 2, 74597937: 74597937
27 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh38 Chromosome 2, 74371624: 74371624
28 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh37 Chromosome 2, 74598751: 74598751
29 DCTN1 NM_004082.4(DCTN1): c.34-11G> T single nucleotide variant Benign/Likely benign rs73948789 GRCh37 Chromosome 2, 74605383: 74605383
30 DCTN1 NM_004082.4(DCTN1): c.34-11G> T single nucleotide variant Benign/Likely benign rs73948789 GRCh38 Chromosome 2, 74378256: 74378256
31 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh38 Chromosome 2, 74378046: 74378046
32 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh37 Chromosome 2, 74605173: 74605173
33 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh37 Chromosome 2, 74605206: 74605206
34 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh38 Chromosome 2, 74378079: 74378079
35 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh38 Chromosome 2, 74378112: 74378112
36 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh37 Chromosome 2, 74605239: 74605239
37 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh38 Chromosome 2, 74378123: 74378123
38 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh37 Chromosome 2, 74605250: 74605250
39 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh37 Chromosome 2, 74590116: 74590116
40 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh38 Chromosome 2, 74362989: 74362989
41 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh37 Chromosome 2, 74596309: 74596309
42 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh38 Chromosome 2, 74369182: 74369182
43 DCTN1 NM_004082.4(DCTN1): c.*122A> C single nucleotide variant Likely benign rs777649011 GRCh38 Chromosome 2, 74361377: 74361377
44 DCTN1 NM_004082.4(DCTN1): c.*122A> C single nucleotide variant Likely benign rs777649011 GRCh37 Chromosome 2, 74588504: 74588504
45 DCTN1 NM_004082.4(DCTN1): c.*21C> T single nucleotide variant Likely benign rs11555696 GRCh38 Chromosome 2, 74361478: 74361478
46 DCTN1 NM_004082.4(DCTN1): c.*21C> T single nucleotide variant Likely benign rs11555696 GRCh37 Chromosome 2, 74588605: 74588605
47 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh38 Chromosome 2, 74362665: 74362665
48 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh37 Chromosome 2, 74589792: 74589792
49 DCTN1 NM_004082.4(DCTN1): c.3547G> T (p.Ala1183Ser) single nucleotide variant Uncertain significance rs886056329 GRCh38 Chromosome 2, 74362712: 74362712
50 DCTN1 NM_004082.4(DCTN1): c.3547G> T (p.Ala1183Ser) single nucleotide variant Uncertain significance rs886056329 GRCh37 Chromosome 2, 74589839: 74589839

Expression for Perry Syndrome

Search GEO for disease gene expression data for Perry Syndrome.

Pathways for Perry Syndrome

GO Terms for Perry Syndrome

Cellular components related to Perry Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.92 C9orf72 GCH1 HCRT SLC18A2 TH
2 microtubule GO:0005874 9.84 DCTN1 DCTN2 DYNC1I1 MAPT
3 kinetochore GO:0000776 9.69 DCTN1 DCTN2 DYNC1I1
4 neuron projection GO:0043005 9.63 C9orf72 DCTN1 MAPT SLC6A3 TH TPH1
5 growth cone GO:0030426 9.62 C9orf72 DCTN2 MAPT SNCA
6 terminal bouton GO:0043195 9.58 SLC18A2 SNCA TH
7 synaptic vesicle GO:0008021 9.56 HCRT SLC18A2 SNCA TH
8 dynein complex GO:0030286 9.54 DCTN1 DCTN2 DYNC1I1
9 dopaminergic synapse GO:0098691 9.48 SLC18A2 SLC6A3
10 dynactin complex GO:0005869 9.46 DCTN1 DCTN2
11 main axon GO:0044304 9.43 C9orf72 MAPT
12 neuronal cell body GO:0043025 9.43 DCTN1 MAPT SLC6A3 SNCA TAC1 TH
13 axon GO:0030424 9.17 C9orf72 DCTN1 MAPT SLC6A3 SNCA TAC1
14 cytoplasm GO:0005737 10.31 C9orf72 DCTN1 DCTN2 DYNC1I1 GCH1 HCRT

Biological processes related to Perry Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.83 HCRT SLC18A2 SNCA TAC1
2 neuropeptide signaling pathway GO:0007218 9.77 HCRT NPS TAC1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.75 DCTN1 DCTN2 DYNC1I1
4 locomotory behavior GO:0007626 9.73 SLC18A2 SLC6A3 TH
5 negative regulation of protein phosphorylation GO:0001933 9.69 C9orf72 SNCA TARDBP
6 response to lipopolysaccharide GO:0032496 9.67 GCH1 SNCA TAC1 TH
7 positive regulation of microtubule polymerization GO:0031116 9.62 DCTN1 MAPT
8 regulation of neurotransmitter secretion GO:0046928 9.61 HCRT SNCA
9 microglial cell activation GO:0001774 9.61 MAPT SNCA
10 synaptic transmission, dopaminergic GO:0001963 9.6 SNCA TH
11 stress granule assembly GO:0034063 9.58 C9orf72 MAPT
12 neurotransmitter biosynthetic process GO:0042136 9.57 SLC6A3 TH
13 supramolecular fiber organization GO:0097435 9.55 MAPT SNCA
14 positive regulation of synaptic transmission, GABAergic GO:0032230 9.54 NPS TAC1
15 aromatic amino acid family metabolic process GO:0009072 9.49 TH TPH1
16 monoamine transport GO:0015844 9.48 SLC18A2 SLC6A3
17 tachykinin receptor signaling pathway GO:0007217 9.46 TAC1 TACR1
18 dopamine transport GO:0015872 9.43 SLC18A2 SLC6A3
19 positive regulation of action potential GO:0045760 9.4 NPS TAC1
20 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.32 SLC18A2 TH
21 detection of abiotic stimulus GO:0009582 9.26 TAC1 TACR1
22 axonal transport GO:0098930 9.16 DCTN1 MAPT
23 response to pain GO:0048265 9.13 GCH1 TAC1 TACR1
24 dopamine biosynthetic process GO:0042416 8.92 GCH1 SLC6A3 SNCA TH

Molecular functions related to Perry Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.5 DCTN1 DCTN2 DYNC1I1
2 microtubule binding GO:0008017 9.46 DCTN1 DYNC1I1 MAPT SNCA
3 dynein complex binding GO:0070840 9.37 DCTN1 SNCA
4 dopamine binding GO:0035240 9.26 SLC6A3 TH
5 monoamine transmembrane transporter activity GO:0008504 8.96 SLC18A2 SLC6A3
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.62 TH TPH1

Sources for Perry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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