PERRYS
MCID: PRR007
MIFTS: 52

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 56 12 24 52 25 58 73 36 29 13 6 43 15 39 71
Parkinsonism with Alveolar Hypoventilation and Mental Depression 56 12 52 25 58 73
Perrys 73

Characteristics:

Orphanet epidemiological data:

58
perry syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
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:

31
perry syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course rapidly progressive


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: 58  
Rare neurological diseases


Summaries for Perry Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178509 Definition A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. Epidemiology The 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 description Perry 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. Etiology Perry 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 methods Diagnosis 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 diagnosis The 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 diagnosis Antenatal diagnosis is possible in laboratories that offer custom prenatal testing for families with a known DCTN1 mutation. Genetic counseling Perry 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 treatment There 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. Prognosis Perry 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 pure autonomic failure and neuronopathy, distal hereditary motor, type viib, and has symptoms including sleeplessness An important gene associated with Perry Syndrome is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Neuroscience. Affiliated tissues include brain and testes, and related phenotypes are sleep disturbance and weight loss

Disease Ontology : 12 A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.

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. Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease. Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure. People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.

OMIM : 56 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)

KEGG : 36 Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular level, Perry syndrome is characterized by TDP-43 inclusions indicating a pathological overlap with amyotrophic lateral sclerosis (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex.

UniProtKB/Swiss-Prot : 73 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 137)
# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 30.4 TH SNCA
2 neuronopathy, distal hereditary motor, type viib 30.0 TARDBP MAPRE3 DCTN2 DCTN1
3 multiple system atrophy 1 29.9 TH SNCA MAPT
4 lateral sclerosis 29.7 VCP TARDBP DCTN1 CHMP2B C9orf72
5 sleep disorder 29.7 TH SNCA MAPT HCRT
6 motor neuron disease 28.8 VCP TARDBP SNCA MAPT GRN DCTN1
7 frontotemporal dementia 27.5 VCP TMEM106B TARDBP SNCA MAPT HCRT
8 amyotrophic lateral sclerosis 1 27.3 VCP TMEM106B TH TARDBP SNCA MAPT
9 supranuclear palsy, progressive, 1 27.0 VCP TMEM106B TH TARDBP SNCA MAPT
10 brunsting-perry syndrome 12.4
11 beta-aminoisobutyric aciduria 11.2
12 factor vii deficiency 11.2
13 menarche, age at, quantitative trait locus 1 11.2
14 hyperproinsulinemia 11.2
15 epidermolysis bullosa 10.5
16 epidermolysis bullosa acquisita 10.5
17 kleine-levin hibernation syndrome 10.4 TPH1 HCRT
18 recurrent hypersomnia 10.4 TPH1 HCRT
19 von economo's disease 10.4 SNCA HCRT
20 dopamine beta-hydroxylase deficiency 10.3 TH SNCA
21 amyotrophic lateral sclerosis type 22 10.3 TARDBP C9orf72
22 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 TPH1 TH
23 respiratory failure 10.3
24 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.3 TARDBP C9orf72
25 gangliocytoma 10.2 TH C9orf72
26 autosomal dominant distal hereditary motor neuronopathy 10.2 DCTN2 DCTN1 BICD2
27 spinal and bulbar muscular atrophy, x-linked 1 10.2 TARDBP DCTN1 C9orf72
28 parkinson disease 4, autosomal dominant 10.2 TH SNCA
29 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 MAPT GRN
30 late-onset retinal degeneration 10.1
31 phenylketonuria 10.1 TPH1 TH HCRT
32 pseudobulbar palsy 10.1 TARDBP C9orf72
33 machado-joseph disease 10.1 VCP TARDBP SNCA
34 primary lateral sclerosis, adult, 1 10.1 SNCA MAPT
35 chromosome 17q21.31 duplication syndrome 10.1 SNCA MAPT
36 visual agnosia 10.1 MAPT GRN
37 alexia 10.1 MAPT GRN
38 multisystem proteinopathy 10.1 VCP TARDBP C9orf72
39 amyotrophic lateral sclerosis type 15 10.1 CHMP2B C9orf72
40 coenzyme q10 deficiency, primary, 1 10.1 SNCA MAPT
41 ideomotor apraxia 10.0 TARDBP MAPT GRN
42 amyotrophic lateral sclerosis 12 10.0 TARDBP CHMP2B
43 anxiety 10.0 TPH1 TH SNCA HCRT
44 distal hereditary motor neuronopathy type 7 10.0 TARDBP MAPRE3 DCTN2 DCTN1
45 prosopagnosia 10.0 TARDBP MAPT GRN
46 akinetic mutism 10.0 TARDBP SNCA MAPT
47 amyotrophic lateral sclerosis 11 10.0 TARDBP CHMP2B
48 posterior cerebral artery infarction 10.0 TH MAPT
49 muscular atrophy 10.0 TARDBP DCTN1 C9orf72 BICD2
50 corticobasal degeneration 10.0 TARDBP MAPT

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
2 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
3 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
5 apathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000741
6 parkinsonism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001300
7 central hypoventilation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007110
8 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
9 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
10 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 respiratory insufficiency 31 HP:0002093
13 mask-like facies 31 HP:0000298
14 dysarthria 31 HP:0001260
15 abnormality of extrapyramidal motor function 58 Very frequent (99-80%)
16 insomnia 31 HP:0100785
17 weak voice 31 HP:0001621
18 rigidity 31 HP:0002063
19 vertical supranuclear gaze palsy 31 HP:0000511
20 bradykinesia 31 HP:0002067
21 hypoventilation 31 HP:0002791
22 short stepped shuffling gait 31 HP:0007311
23 frontotemporal dementia 31 HP:0002145
24 inappropriate behavior 31 HP:0000719

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
weight loss

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

Respiratory:
respiratory insufficiency
hypoventilation, central

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 BICD2 C9orf72 DCTN1 FAM160A2 GRN HCRT
2 cardiovascular system MP:0005385 9.91 C9orf72 DCTN2 HCRT MAPRE3 MAPT SNCA
3 cellular MP:0005384 9.9 BICD2 C9orf72 CLIP1 DCTN1 GRN MAPT
4 growth/size/body region MP:0005378 9.73 BICD2 C9orf72 FAM160A2 GRN HCRT MAPT
5 nervous system MP:0003631 9.36 BICD2 C9orf72 CHMP2B DCTN1 GRN HCRT

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:

40
Brain, Testes

Publications for Perry Syndrome

Articles related to Perry Syndrome:

(show top 50) (show all 70)
# Title Authors PMID Year
1
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. 6 61 56 24
24343258 2014
2
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. 24 6 56 61
20437543 2010
3
DCTN1 mutations in Perry syndrome. 61 24 56 6
19136952 2009
4
Elucidating the genetics and pathology of Perry syndrome. 24 56 61
19732908 2010
5
Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. 61 56 24
43704 1979
6
Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. 24 56
11940687 2002
7
[Familial parkinsonian syndrome with athymhormia and hypoventilation]. 56 24
1604112 1992
8
Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. 56 24
2247238 1990
9
Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. 56 24
3352925 1988
10
Hereditary mental depression and Parkinsonism with taurine deficiency. 56 24
1122173 1975
11
Perry Syndrome 6 61
20945553 2010
12
DCTN1 p.K56R in progressive supranuclear palsy. 61 24
27132499 2016
13
Three families with Perry syndrome from distinct parts of the world. 61 24
24881494 2014
14
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. 61 24
24797316 2014
15
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24 61
24676999 2014
16
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. 61 24
24484619 2014
17
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. 61 24
24500497 2014
18
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. 61 24
23628468 2013
19
Autonomic failures in Perry syndrome with DCTN1 mutation. 24 61
20702129 2010
20
Transcranial sonography in Perry syndrome. 61 24
19505837 2010
21
Characterization of DCTN1 genetic variability in neurodegeneration. 24 61
19506225 2009
22
Pallidonigral TDP-43 pathology in Perry syndrome. 24 61
18723384 2009
23
Neurodegeneration involving putative respiratory neurons in Perry syndrome. 24 61
17576579 2008
24
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. 61 24
17870652 2008
25
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. 24
27025386 2016
26
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. 24
25382069 2015
27
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. 24
25109764 2014
28
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 24
23143281 2013
29
Dynactin is required for transport initiation from the distal axon. 24
22542186 2012
30
The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. 24
22542187 2012
31
Autosomal dominant tauopathy with parkinsonism and central hypoventilation. 24
22357714 2012
32
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. 24
18852346 2008
33
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 24
16505168 2006
34
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 24
16240349 2005
35
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. 24
15852399 2005
36
[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]. 24
16149212 2005
37
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 24
15326253 2004
38
Mutant dynactin in motor neuron disease. 24
12627231 2003
39
Familial parkinsonism with depression: a clinicopathological study. 24
8250534 1993
40
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. 61
32402491 2020
41
DCTN1-related Parkinson-plus disorder (Perry syndrome). 61
32434902 2020
42
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation. 61
32325477 2020
43
Neuropathological findings in a South Korean patient with Perry syndrome. 61
31829926 2020
44
A case of Perry Syndrome responding to intestinal infusion of carbidopa/levodopa. 61
30377036 2019
45
p150glued deficiency impairs effective fusion between autophagosomes and lysosomes due to their redistribution to the cell periphery. 61
30366015 2019
46
Dynactin is involved in Lewy body pathology. 61
30215870 2018
47
Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells. 61
30518093 2018
48
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy. 61
29499916 2018
49
Establishing diagnostic criteria for Perry syndrome. 61
29089398 2018
50
In Reply-Diaphragmatic Pacemaker for Perry Syndrome. 61
29406203 2018

Variations for Perry Syndrome

ClinVar genetic disease variations for Perry Syndrome:

6 (show top 50) (show all 286) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCTN1 NM_004082.4(DCTN1):c.211G>A (p.Gly71Arg)SNV Pathogenic 8406 rs72466485 2:74605195-74605195 2:74378068-74378068
2 DCTN1 NM_004082.4(DCTN1):c.221A>C (p.Gln74Pro)SNV Pathogenic 8407 rs72466487 2:74605185-74605185 2:74378058-74378058
3 DCTN1 NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu)SNV Pathogenic 21390 rs67586389 2:74605194-74605194 2:74378067-74378067
4 DCTN1 NM_004082.4(DCTN1):c.212G>C (p.Gly71Ala)SNV Pathogenic 21391 rs67586389 2:74605194-74605194 2:74378067-74378067
5 DCTN1 NM_004082.4(DCTN1):c.214A>C (p.Thr72Pro)SNV Pathogenic 21392 rs72466486 2:74605192-74605192 2:74378065-74378065
6 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser)SNV Pathogenic 8401 rs121909342 2:74605231-74605231 2:74378104-74378104
7 DCTN1 NM_004082.4(DCTN1):c.233A>G (p.Tyr78Cys)SNV Pathogenic 264688 rs886039229 2:74605173-74605173 2:74378046-74378046
8 DCTN1 NM_004082.4(DCTN1):c.200G>A (p.Gly67Asp)SNV Pathogenic 264687 rs886039228 2:74605206-74605206 2:74378079-74378079
9 DCTN1 NM_004082.4(DCTN1):c.156T>G (p.Phe52Leu)SNV Pathogenic 264685 rs886039227 2:74605250-74605250 2:74378123-74378123
10 DCTN1 NM_004082.4(DCTN1):c.3529+5G>ASNV Conflicting interpretations of pathogenicity 284990 rs72466494 2:74590116-74590116 2:74362989-74362989
11 DCTN1 NC_000002.12:g.74370534G>ASNV Conflicting interpretations of pathogenicity 898644 2:74597661-74597661 2:74370534-74370534
12 DCTN1 NM_004082.4(DCTN1):c.2559C>T (p.Ala853=)SNV Conflicting interpretations of pathogenicity 728350 2:74593655-74593655 2:74366528-74366528
13 DCTN1 NM_004082.4(DCTN1):c.2002C>T (p.His668Tyr)SNV Conflicting interpretations of pathogenicity 337085 rs764443534 2:74595111-74595111 2:74367984-74367984
14 DCTN1 NM_004082.4(DCTN1):c.1129A>C (p.Met377Leu)SNV Conflicting interpretations of pathogenicity 337090 rs570863800 2:74597471-74597471 2:74370344-74370344
15 DCTN1 NM_004082.4(DCTN1):c.586A>G (p.Ile196Val)SNV Conflicting interpretations of pathogenicity 337096 rs55862001 2:74598723-74598723 2:74371596-74371596
16 DCTN1 NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln)SNV Conflicting interpretations of pathogenicity 337078 rs72659383 2:74592252-74592252 2:74365125-74365125
17 DCTN1 NM_004082.4(DCTN1):c.60G>A (p.Ala20=)SNV Conflicting interpretations of pathogenicity 337097 rs150204862 2:74605346-74605346 2:74378219-74378219
18 DCTN1 NM_004082.4(DCTN1):c.2278A>G (p.Met760Val)SNV Conflicting interpretations of pathogenicity 337081 rs754780894 2:74594210-74594210 2:74367083-74367083
19 DCTN1 NM_004082.4(DCTN1):c.837G>A (p.Ala279=)SNV Conflicting interpretations of pathogenicity 447239 rs72466489 2:74598112-74598112 2:74370985-74370985
20 DCTN1 NM_004082.4(DCTN1):c.442C>T (p.Arg148Trp)SNV Conflicting interpretations of pathogenicity 447238 rs148810193 2:74600066-74600066 2:74372939-74372939
21 DCTN1 NM_004082.4(DCTN1):c.673C>T (p.Arg225Trp)SNV Conflicting interpretations of pathogenicity 453052 rs371723224 2:74598276-74598276 2:74371149-74371149
22 DCTN1 NM_004082.4(DCTN1):c.3712C>G (p.Gln1238Glu)SNV Conflicting interpretations of pathogenicity 654711 2:74588751-74588751 2:74361624-74361624
23 DCTN1 NM_004082.4(DCTN1):c.2633A>G (p.Tyr878Cys)SNV Conflicting interpretations of pathogenicity 568956 rs778201974 2:74593498-74593498 2:74366371-74366371
24 DCTN1 NM_004082.4(DCTN1):c.1364G>A (p.Arg455His)SNV Uncertain significance 577645 rs763277715 2:74597120-74597120 2:74369993-74369993
25 DCTN1 NM_004082.4(DCTN1):c.3824G>A (p.Arg1275His)SNV Uncertain significance 570076 rs560344779 2:74588639-74588639 2:74361512-74361512
26 DCTN1 NM_004082.4(DCTN1):c.3781C>T (p.Arg1261Trp)SNV Uncertain significance 640228 2:74588682-74588682 2:74361555-74361555
27 DCTN1 NM_004082.4(DCTN1):c.3776G>A (p.Arg1259Gln)SNV Uncertain significance 643909 2:74588687-74588687 2:74361560-74361560
28 DCTN1 NM_004082.4(DCTN1):c.3760G>T (p.Ala1254Ser)SNV Uncertain significance 640080 2:74588703-74588703 2:74361576-74361576
29 DCTN1 NM_004082.4(DCTN1):c.3728T>C (p.Val1243Ala)SNV Uncertain significance 665455 2:74588735-74588735 2:74361608-74361608
30 DCTN1 NM_004082.4(DCTN1):c.559G>T (p.Ala187Ser)SNV Uncertain significance 536161 rs960727301 2:74598750-74598750 2:74371623-74371623
31 DCTN1 NM_004082.4(DCTN1):c.1288-6A>GSNV Uncertain significance 536164 rs1236101222 2:74597202-74597202 2:74370075-74370075
32 DCTN1 NM_004082.4(DCTN1):c.3127C>T (p.Arg1043Cys)SNV Uncertain significance 536153 rs140066692 2:74592271-74592271 2:74365144-74365144
33 DCTN1 NM_004082.4(DCTN1):c.1255G>A (p.Ala419Thr)SNV Uncertain significance 536150 rs922032527 2:74597345-74597345 2:74370218-74370218
34 DCTN1 NM_004082.4(DCTN1):c.3556A>G (p.Met1186Val)SNV Uncertain significance 570153 rs1477782343 2:74589830-74589830 2:74362703-74362703
35 DCTN1 NM_004082.4(DCTN1):c.3215C>G (p.Ala1072Gly)SNV Uncertain significance 574007 rs780875333 2:74590551-74590551 2:74363424-74363424
36 DCTN1 NM_004082.4(DCTN1):c.2986A>G (p.Thr996Ala)SNV Uncertain significance 582031 rs1558935430 2:74592685-74592685 2:74365558-74365558
37 DCTN1 NM_004082.4(DCTN1):c.2909A>G (p.Asn970Ser)SNV Uncertain significance 566389 rs568812456 2:74592762-74592762 2:74365635-74365635
38 DCTN1 NM_004082.4(DCTN1):c.1595G>A (p.Arg532Gln)SNV Uncertain significance 579780 rs759306485 2:74596331-74596331 2:74369204-74369204
39 DCTN1 NM_004082.4(DCTN1):c.1388A>G (p.Asp463Gly)SNV Uncertain significance 576002 rs1558941192 2:74597096-74597096 2:74369969-74369969
40 DCTN1 NM_004082.4(DCTN1):c.460C>T (p.Arg154Cys)SNV Uncertain significance 574723 rs141670992 2:74598849-74598849 2:74371722-74371722
41 DCTN1 NM_004082.4(DCTN1):c.279+1G>TSNV Uncertain significance 565763 rs1393363759 2:74605126-74605126 2:74377999-74377999
42 DCTN1 NM_004082.4(DCTN1):c.3643C>T (p.Pro1215Ser)SNV Uncertain significance 657312 2:74589235-74589235 2:74362108-74362108
43 DCTN1 NM_004082.4(DCTN1):c.3545C>T (p.Ser1182Leu)SNV Uncertain significance 661256 2:74589841-74589841 2:74362714-74362714
44 DCTN1 NM_004082.4(DCTN1):c.3425A>G (p.Glu1142Gly)SNV Uncertain significance 657154 2:74590225-74590225 2:74363098-74363098
45 DCTN1 NM_004082.4(DCTN1):c.3382C>G (p.Pro1128Ala)SNV Uncertain significance 649963 2:74590268-74590268 2:74363141-74363141
46 DCTN1 NM_004082.4(DCTN1):c.3217A>G (p.Ile1073Val)SNV Uncertain significance 656139 2:74590549-74590549 2:74363422-74363422
47 DCTN1 NM_004082.4(DCTN1):c.3172A>T (p.Thr1058Ser)SNV Uncertain significance 654545 2:74592226-74592226 2:74365099-74365099
48 DCTN1 NM_004082.4(DCTN1):c.3158C>T (p.Pro1053Leu)SNV Uncertain significance 655129 2:74592240-74592240 2:74365113-74365113
49 DCTN1 NM_004082.4(DCTN1):c.2883T>G (p.Ile961Met)SNV Uncertain significance 662814 2:74593023-74593023 2:74365896-74365896
50 DCTN1 NM_004082.4(DCTN1):c.2879A>G (p.Lys960Arg)SNV Uncertain significance 647047 2:74593027-74593027 2:74365900-74365900

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

73
# 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

Expression for Perry Syndrome

Search GEO for disease gene expression data for Perry Syndrome.

Pathways for Perry Syndrome

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

# Super pathways Score Top Affiliating Genes
1 12.04 VCP MAPT DCTN1 CLIP1 CHMP2B
2 11.7 TPH1 TH TARDBP SNCA MAPT HCRT
3
Show member pathways
10.6 TPH1 TH
4 10.58 DCTN2 DCTN1 BICD2

GO Terms for Perry Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 VCP TPH1 TH TARDBP SNCA MAPT
2 cytoskeleton GO:0005856 10.05 SNCA MAPT MAPRE3 DCTN2 DCTN1 CLIP1
3 neuron projection GO:0043005 9.88 TPH1 TH MAPT DCTN1 C9orf72
4 axon GO:0030424 9.8 TH SNCA MAPT DCTN1 C9orf72
5 lysosome GO:0005764 9.77 TMEM106B SNCA GRN CHMP2B C9orf72
6 kinetochore GO:0000776 9.7 DCTN2 DCTN1 CLIP1
7 cytoplasmic stress granule GO:0010494 9.67 VCP TARDBP C9orf72
8 microtubule cytoskeleton GO:0015630 9.62 MAPT MAPRE3 DCTN1 CLIP1
9 growth cone GO:0030426 9.56 SNCA MAPT DCTN2 C9orf72
10 microtubule GO:0005874 9.55 MAPT MAPRE3 DCTN2 DCTN1 CLIP1
11 main axon GO:0044304 9.46 MAPT C9orf72
12 cell GO:0005623 9.23 TH SNCA MAPT HCRT GRN DCTN2
13 microtubule plus-end GO:0035371 9.13 MAPRE3 DCTN1 CLIP1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.63 VCP SNCA MAPT
2 negative regulation of protein phosphorylation GO:0001933 9.58 TARDBP SNCA C9orf72
3 response to immobilization stress GO:0035902 9.57 TPH1 TH
4 regulation of neurotransmitter secretion GO:0046928 9.56 SNCA HCRT
5 stress granule assembly GO:0034063 9.55 MAPT C9orf72
6 lysosomal transport GO:0007041 9.54 TMEM106B GRN
7 synaptic transmission, dopaminergic GO:0001963 9.52 TH SNCA
8 regulation of microtubule polymerization or depolymerization GO:0031110 9.51 MAPT MAPRE3
9 neuron cellular homeostasis GO:0070050 9.49 DCTN1 CHMP2B
10 supramolecular fiber organization GO:0097435 9.48 SNCA MAPT
11 regulation of microtubule polymerization GO:0031113 9.43 MAPT MAPRE3
12 cytoplasmic microtubule organization GO:0031122 9.43 MAPT DCTN1 CLIP1
13 dopamine biosynthetic process GO:0042416 9.37 TH SNCA
14 aromatic amino acid family metabolic process GO:0009072 9.32 TPH1 TH
15 axonal transport GO:0098930 9.16 MAPT DCTN1
16 lysosome organization GO:0007040 9.13 TMEM106B GRN FAM160A2
17 positive regulation of microtubule polymerization GO:0031116 8.8 MAPT DCTN1 CLIP1

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.62 VCP TH SNCA CHMP2B
2 tubulin binding GO:0015631 9.43 MAPT DCTN1 CLIP1
3 dynein complex binding GO:0070840 9.4 SNCA BICD2
4 dynactin binding GO:0034452 9.37 MAPT BICD2
5 microtubule binding GO:0008017 9.35 SNCA MAPT MAPRE3 DCTN1 CLIP1
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 9.16 TPH1 TH
7 microtubule plus-end binding GO:0051010 8.8 MAPRE3 DCTN1 CLIP1

Sources for Perry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....