MCID: PRR007
MIFTS: 50

Perry Syndrome

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

Aliases & Classifications for Perry Syndrome

MalaCards integrated aliases for Perry Syndrome:

Name: Perry Syndrome 57 12 24 53 25 59 75 37 29 13 6 44 15 40 73
Parkinsonism with Alveolar Hypoventilation and Mental Depression 57 12 53 25 59 75
Perrys 75

Characteristics:

Orphanet epidemiological data:

59
perry syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
perry syndrome:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Perry Syndrome

NIH Rare Diseases : 53 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

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

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.

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 69)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 30.0 SLC6A3 SNCA TH
2 supranuclear palsy, progressive, 1 28.4 C9orf72 GRN SLC6A3 SNCA TARDBP TH
3 brunsting-perry syndrome 12.1
4 phonagnosia 10.8 GRN TARDBP
5 associative agnosia 10.7 GRN TARDBP
6 writing disorder 10.7 GRN TARDBP
7 postencephalitic parkinson disease 10.6 SNCA TARDBP
8 von economo's disease 10.6 HCRT SNCA
9 gangliocytoma 10.6 C9orf72 TH
10 amyotrophic lateral sclerosis 18 10.5 C9orf72 TARDBP
11 progressive non-fluent aphasia 10.5 C9orf72 GRN
12 behavioral variant of frontotemporal dementia 10.5 C9orf72 GRN
13 autoimmune polyendocrine syndrome type 1 10.5 TH TPH1
14 progressive muscular atrophy 10.5 C9orf72 TARDBP
15 amyotrophic lateral sclerosis 21 10.4 C9orf72 TARDBP
16 mutism 10.4 GRN SLC6A3
17 pick disease of brain 10.4 GRN SNCA TARDBP
18 semantic dementia 10.3 C9orf72 GRN TARDBP
19 nominal aphasia 10.3 C9orf72 GRN TARDBP
20 basal ganglia disease 10.3 C9orf72 GRN TARDBP
21 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.3 C9orf72 GRN TARDBP
22 striatonigral degeneration 10.3 SLC6A3 SNCA
23 speech and communication disorders 10.3 C9orf72 GRN TARDBP
24 kleine-levin hibernation syndrome 10.2 HCRT SLC6A3 TPH1
25 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 TH TPH1
26 rem sleep behavior disorder 10.2 HCRT SLC6A3 SNCA
27 aphasia 10.2 C9orf72 GRN SNCA
28 alcohol-induced mental disorder 10.2 NPS SLC6A3
29 spinocerebellar ataxia 23 10.1 NPS TACR1
30 cocaine abuse 10.1 SLC18A2 SLC6A3 SNCA
31 lateral sclerosis 10.1 C9orf72 DCTN1 TARDBP
32 alcoholic psychosis 10.1 NPS SLC6A3
33 psychotic disorder 10.1 SLC18A2 SLC6A3 TPH1
34 neurotrophic keratopathy 10.1 TAC1 TACR1
35 diverticulitis of colon 10.0 NPS TACR1
36 neuronitis 10.0
37 tic disorder 10.0 SLC18A2 SLC6A3
38 epicondylitis 10.0 NPS TAC1
39 frontotemporal dementia 9.9 C9orf72 GRN SNCA TARDBP
40 restless legs syndrome 9.9 HCRT SLC6A3 SNCA TH
41 toxic encephalopathy 9.8 SLC18A2 SLC6A3 SNCA TH
42 movement disease 9.8 SLC18A2 SLC6A3 SNCA TH
43 synucleinopathy 9.8 SLC18A2 SLC6A3 SNCA TH
44 mood disorder 9.8 SLC18A2 TACR1 TH TPH1
45 impulse control disorder 9.8
46 respiratory failure 9.8
47 cicatricial pemphigoid 9.8
48 pharyngitis 9.8
49 supranuclear ocular palsy 9.8
50 depression 9.8

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



Diseases related to Perry Syndrome

Symptoms & Phenotypes for Perry Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Perry Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
2 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
3 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
4 hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002615
5 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
6 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
7 parkinsonism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001300
8 apathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000741
9 personality changes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000751
10 central hypoventilation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007110
11 dysarthria 32 HP:0001260
12 respiratory insufficiency 32 HP:0002093
13 abnormality of metabolism/homeostasis 32 HP:0001939
14 mask-like facies 32 HP:0000298
15 rigidity 32 HP:0002063
16 abnormality of extrapyramidal motor function 59 Very frequent (99-80%)
17 insomnia 32 HP:0100785
18 weak voice 32 HP:0001621
19 bradykinesia 32 HP:0002067
20 hypoventilation 32 HP:0002791
21 vertical supranuclear gaze palsy 32 HP:0000511
22 inappropriate behavior 32 HP:0000719
23 short stepped shuffling gait 32 HP:0007311

UMLS symptoms related to Perry Syndrome:


sleeplessness

MGI Mouse Phenotypes related to Perry Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 HCRT MAF SLC18A2 SLC6A3 SNCA TAC1
2 cellular MP:0005384 10.02 C9orf72 DCTN1 GRN SLC18A2 SLC6A3 SNCA
3 homeostasis/metabolism MP:0005376 10 TARDBP TH TPH1 DCTN1 GRN HCRT
4 growth/size/body region MP:0005378 9.97 C9orf72 HCRT TARDBP TH TPH1 MAF
5 integument MP:0010771 9.7 MAF SLC6A3 SNCA TAC1 TACR1 TH
6 nervous system MP:0003631 9.7 C9orf72 DCTN1 GRN HCRT MAF SLC18A2
7 taste/olfaction MP:0005394 8.8 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 29 DCTN1

Anatomical Context for Perry Syndrome

MalaCards organs/tissues related to Perry Syndrome:

41
Brain, Testes

Publications for Perry Syndrome

Articles related to Perry Syndrome:

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

Variations for Perry Syndrome

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

75
# 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 270)
# 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_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh37 Chromosome 2, 74605195: 74605195
6 DCTN1 NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh38 Chromosome 2, 74378068: 74378068
7 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh37 Chromosome 2, 74605185: 74605185
8 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh38 Chromosome 2, 74378058: 74378058
9 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
10 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh38 Chromosome 2, 74378067: 74378067
11 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
12 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh38 Chromosome 2, 74378067: 74378067
13 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh37 Chromosome 2, 74605192: 74605192
14 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh38 Chromosome 2, 74378065: 74378065
15 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh38 Chromosome 2, 74366801: 74366801
16 DCTN1 NM_004082.4(DCTN1): c.2448A> G (p.Ala816=) single nucleotide variant Benign/Likely benign rs1130484 GRCh37 Chromosome 2, 74593928: 74593928
17 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh37 Chromosome 2, 74596321: 74596321
18 DCTN1 NM_004082.4(DCTN1): c.1605A> G (p.Thr535=) single nucleotide variant Benign rs13429423 GRCh38 Chromosome 2, 74369194: 74369194
19 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh38 Chromosome 2, 74369400: 74369400
20 DCTN1 NM_004082.4(DCTN1): c.1484G> A (p.Arg495Gln) single nucleotide variant Benign/Likely benign rs17721059 GRCh37 Chromosome 2, 74596527: 74596527
21 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh38 Chromosome 2, 74370072: 74370072
22 DCTN1 NM_004082.4(DCTN1): c.1288-3C> T single nucleotide variant Benign/Likely benign rs72466490 GRCh37 Chromosome 2, 74597199: 74597199
23 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh38 Chromosome 2, 74370810: 74370810
24 DCTN1 NM_004082.4(DCTN1): c.859C> A (p.Leu287Met) single nucleotide variant Benign rs13420401 GRCh37 Chromosome 2, 74597937: 74597937
25 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh38 Chromosome 2, 74371624: 74371624
26 DCTN1 NM_004082.4(DCTN1): c.558G> A (p.Pro186=) single nucleotide variant Likely benign rs201078804 GRCh37 Chromosome 2, 74598751: 74598751
27 DCTN1 NM_004082.4(DCTN1): c.34-11G> T single nucleotide variant Likely benign rs73948789 GRCh37 Chromosome 2, 74605383: 74605383
28 DCTN1 NM_004082.4(DCTN1): c.34-11G> T single nucleotide variant Likely benign rs73948789 GRCh38 Chromosome 2, 74378256: 74378256
29 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh38 Chromosome 2, 74378046: 74378046
30 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh37 Chromosome 2, 74605173: 74605173
31 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh37 Chromosome 2, 74605206: 74605206
32 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh38 Chromosome 2, 74378079: 74378079
33 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh38 Chromosome 2, 74378112: 74378112
34 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Uncertain significance rs566433112 GRCh37 Chromosome 2, 74605239: 74605239
35 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh38 Chromosome 2, 74378123: 74378123
36 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh37 Chromosome 2, 74605250: 74605250
37 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh37 Chromosome 2, 74590116: 74590116
38 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh38 Chromosome 2, 74362989: 74362989
39 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh37 Chromosome 2, 74596309: 74596309
40 DCTN1 NM_004082.4(DCTN1): c.1617A> G (p.Glu539=) single nucleotide variant Benign rs139061654 GRCh38 Chromosome 2, 74369182: 74369182
41 DCTN1 NM_004082.4(DCTN1): c.*122A> C single nucleotide variant Likely benign rs777649011 GRCh37 Chromosome 2, 74588504: 74588504
42 DCTN1 NM_004082.4(DCTN1): c.*122A> C single nucleotide variant Likely benign rs777649011 GRCh38 Chromosome 2, 74361377: 74361377
43 DCTN1 NM_004082.4(DCTN1): c.*21C> T single nucleotide variant Likely benign rs11555696 GRCh38 Chromosome 2, 74361478: 74361478
44 DCTN1 NM_004082.4(DCTN1): c.*21C> T single nucleotide variant Likely benign rs11555696 GRCh37 Chromosome 2, 74588605: 74588605
45 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh38 Chromosome 2, 74362665: 74362665
46 DCTN1 NM_004082.4(DCTN1): c.3594C> T (p.Thr1198=) single nucleotide variant Benign/Likely benign rs115689748 GRCh37 Chromosome 2, 74589792: 74589792
47 DCTN1 NM_004082.4(DCTN1): c.3547G> T (p.Ala1183Ser) single nucleotide variant Uncertain significance rs886056329 GRCh38 Chromosome 2, 74362712: 74362712
48 DCTN1 NM_004082.4(DCTN1): c.3547G> T (p.Ala1183Ser) single nucleotide variant Uncertain significance rs886056329 GRCh37 Chromosome 2, 74589839: 74589839
49 DCTN1 NM_004082.4(DCTN1): c.3478A> C (p.Asn1160His) single nucleotide variant Uncertain significance rs747831061 GRCh38 Chromosome 2, 74363045: 74363045
50 DCTN1 NM_004082.4(DCTN1): c.3478A> C (p.Asn1160His) single nucleotide variant Uncertain significance rs747831061 GRCh37 Chromosome 2, 74590172: 74590172

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:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.56 SLC6A3 SNCA TAC1 TH
2 cytoplasmic vesicle membrane GO:0030659 9.5 SLC18A2 SNCA TH
3 axon GO:0030424 9.35 C9orf72 SLC6A3 SNCA TAC1 TH
4 terminal bouton GO:0043195 9.33 SLC18A2 SNCA TH
5 synaptic vesicle GO:0008021 8.92 HCRT SLC18A2 SNCA TH

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.81 HCRT TAC1 TACR1
2 response to organic cyclic compound GO:0014070 9.79 SLC6A3 TACR1 TH
3 response to ethanol GO:0045471 9.78 SLC6A3 TACR1 TH
4 neuropeptide signaling pathway GO:0007218 9.76 HCRT NPS TAC1
5 locomotory behavior GO:0007626 9.75 SLC18A2 SLC6A3 TH
6 negative regulation of protein phosphorylation GO:0001933 9.71 C9orf72 SNCA TARDBP
7 response to morphine GO:0043278 9.66 TAC1 TACR1
8 associative learning GO:0008306 9.65 TAC1 TACR1
9 response to electrical stimulus GO:0051602 9.65 TACR1 TH
10 response to amphetamine GO:0001975 9.65 SLC18A2 TH
11 chemical synaptic transmission GO:0007268 9.65 HCRT SLC18A2 SNCA TAC1 TACR1
12 response to immobilization stress GO:0035902 9.64 TH TPH1
13 response to pain GO:0048265 9.63 TAC1 TACR1
14 regulation of neurotransmitter secretion GO:0046928 9.63 HCRT SNCA
15 synaptic transmission, dopaminergic GO:0001963 9.62 SNCA TH
16 positive regulation of ossification GO:0045778 9.61 TAC1 TACR1
17 response to nicotine GO:0035094 9.61 SLC6A3 TACR1 TH
18 positive regulation of renal sodium excretion GO:0035815 9.6 TAC1 TACR1
19 neurotransmitter biosynthetic process GO:0042136 9.59 SLC6A3 TH
20 aromatic amino acid family metabolic process GO:0009072 9.57 TH TPH1
21 monoamine transport GO:0015844 9.56 SLC18A2 SLC6A3
22 positive regulation of lymphocyte proliferation GO:0050671 9.55 TAC1 TACR1
23 tachykinin receptor signaling pathway GO:0007217 9.52 TAC1 TACR1
24 dopamine transport GO:0015872 9.51 SLC18A2 SLC6A3
25 eating behavior GO:0042755 9.5 HCRT TACR1 TH
26 dopamine uptake involved in synaptic transmission GO:0051583 9.49 SLC6A3 SNCA
27 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.48 SLC18A2 TH
28 detection of abiotic stimulus GO:0009582 9.46 TAC1 TACR1
29 positive regulation of saliva secretion GO:0046878 9.4 TAC1 TACR1
30 positive regulation of synaptic transmission, cholinergic GO:0032224 9.37 TAC1 TACR1
31 positive regulation of synaptic transmission, GABAergic GO:0032230 9.33 NPS TAC1 TACR1
32 dopamine biosynthetic process GO:0042416 9.13 SLC6A3 SNCA TH
33 positive regulation of action potential GO:0045760 8.8 NPS TAC1 TACR1

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

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 9.32 DCTN1 SNCA
2 ferrous iron binding GO:0008198 9.26 SNCA TH
3 dopamine binding GO:0035240 9.16 SLC6A3 TH
4 monoamine transmembrane transporter activity GO:0008504 8.96 SLC18A2 SLC6A3
5 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....