PERRYS
MCID: PRR007
MIFTS: 52

Perry Syndrome (PERRYS)

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

Aliases & Classifications for Perry Syndrome

MalaCards integrated aliases for Perry Syndrome:

Name: Perry Syndrome 57 12 25 20 43 58 73 36 29 13 6 44 15 39 71
Parkinsonism with Alveolar Hypoventilation and Mental Depression 57 12 20 43 58 73
Perrys 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:

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: 58  
Rare neurological diseases


Summaries for Perry Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 178509DefinitionA 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 pure autonomic failure and multiple system atrophy 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 Pathways of neurodegeneration - multiple diseases and Cytoskeletal Signaling. Related phenotypes are sleep disturbance and depressivity

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.

MedlinePlus Genetics : 43 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® : 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) (Updated 05-Mar-2021)

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 121)
# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 30.1 TH SNCA
2 multiple system atrophy 1 29.9 TH SNCA MAPT
3 sleep disorder 29.7 TH SNCA MAPT HCRT
4 lateral sclerosis 29.7 VCP TARDBP DCTN1 CHMP2B C9orf72
5 neuronopathy, distal hereditary motor, type viib 29.6 TARDBP MAPRE3 DCTN2 DCTN1 CLIP1
6 motor neuron disease 28.7 VCP TARDBP SNCA MAPT GRN DCTN1
7 frontotemporal dementia 28.3 VCP TMEM106B TARDBP SNCA MAPT HCRT
8 amyotrophic lateral sclerosis 1 28.0 VCP TMEM106B TH TARDBP SNCA MAPT
9 supranuclear palsy, progressive, 1 27.9 VCP TMEM106B TH TARDBP SNCA MAPT
10 brunsting-perry syndrome 11.3
11 parkinsonism 10.6
12 kluver-bucy syndrome 10.3 HCRT GRN
13 color agnosia 10.3 SNCA GRN
14 parkinson disease 4, autosomal dominant 10.3 TH SNCA
15 von economo's disease 10.3 SNCA HCRT
16 respiratory failure 10.2
17 adjustment disorder 10.2 TH HCRT
18 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 TPH1 TH
19 corticobasal degeneration 10.2 TARDBP MAPT
20 gerstmann syndrome 10.2 MAPT GRN
21 simultanagnosia 10.2 TARDBP MAPT
22 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 MAPT GRN
23 visual agnosia 10.2 MAPT GRN
24 chromosome 17q21.31 duplication syndrome 10.2 SNCA MAPT
25 amyotrophic lateral sclerosis type 14 10.2 VCP CHMP2B
26 apperceptive agnosia 10.1 GRN C9orf72
27 central hypoventilation syndrome, congenital 10.1 TPH1 TH HCRT
28 amyotrophic lateral sclerosis type 22 10.1 TARDBP C9orf72
29 coenzyme q10 deficiency, primary, 1 10.1 SNCA MAPT
30 phenylketonuria 10.1 TPH1 TH HCRT
31 amyotrophic lateral sclerosis 11 10.1 TARDBP CHMP2B
32 akinetic mutism 10.1 TARDBP SNCA MAPT
33 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.1 TARDBP C9orf72
34 machado-joseph disease 10.1 VCP TARDBP SNCA
35 olivopontocerebellar atrophy 10.1 TH SNCA MAPT
36 rem sleep behavior disorder 10.0 SNCA MAPT HCRT
37 toxic encephalopathy 10.0 TH SNCA MAPT
38 spinal muscular atrophy, distal, autosomal recessive, 4 10.0 TARDBP DCTN1 C9orf72
39 fatal familial insomnia 10.0 SNCA MAPT HCRT
40 gangliocytoma 10.0 TH C9orf72
41 anxiety 10.0 TPH1 TH SNCA HCRT
42 early-onset, autosomal dominant alzheimer disease 10.0 VCP MAPT GRN
43 amyotrophic lateral sclerosis 16, juvenile 10.0 VCP CHMP2B
44 amyotrophic lateral sclerosis type 15 10.0 CHMP2B C9orf72
45 inclusion body myositis 10.0 VCP TARDBP MAPT
46 cerebral amyloid angiopathy, cst3-related 10.0 TARDBP SNCA MAPT
47 alcohol dependence 10.0 TPH1 TH SNCA HCRT
48 myositis 10.0 VCP SNCA MAPT
49 prion disease 10.0 TH SNCA MAPT
50 alzheimer disease 9 10.0 SNCA 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 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
3 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
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 dysarthria 31 HP:0001260
12 respiratory insufficiency 31 HP:0002093
13 mask-like facies 31 HP:0000298
14 abnormality of extrapyramidal motor function 58 Very frequent (99-80%)
15 insomnia 31 HP:0100785
16 weak voice 31 HP:0001621
17 abnormality of metabolism/homeostasis 31 HP:0001939
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®:

57 (Updated 05-Mar-2021)
Respiratory:
respiratory insufficiency
hypoventilation, central

Growth Weight:
weight loss

Head And Neck Eyes:
vertical gaze palsy
slowing of vertical saccades

Neurologic Central Nervous System:
insomnia
parkinsonism
dystrophic neurites
frontotemporal dementia, behavioral variant
neuronal loss in the substantia nigra
more
Neurologic Behavioral Psychiatric Manifestations:
apathy
inappropriate behavior
depression
social withdrawal
dysexecutive behavior

Clinical features from OMIM®:

168605 (Updated 05-Mar-2021)

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 10.15 BICD2 C9orf72 DCTN1 FHIP1B GRN HCRT
2 cardiovascular system MP:0005385 10.02 C9orf72 CHMP2B DCTN2 HCRT MAPRE3 MAPT
3 cellular MP:0005384 10 BICD2 C9orf72 CLIP1 DCTN1 GRN MAPT
4 growth/size/body region MP:0005378 9.93 BICD2 C9orf72 CHMP2B FHIP1B GRN HCRT
5 homeostasis/metabolism MP:0005376 9.73 C9orf72 CHMP2B DCTN1 FHIP1B GRN HCRT
6 nervous system MP:0003631 9.4 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

Publications for Perry Syndrome

Articles related to Perry Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. 61 6 57 25
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. 61 6 57 25
20437543 2010
3
DCTN1 mutations in Perry syndrome. 25 57 6 61
19136952 2009
4
Elucidating the genetics and pathology of Perry syndrome. 25 61 57
19732908 2010
5
Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. 57 25 61
43704 1979
6
Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. 57 25
11940687 2002
7
[Familial parkinsonian syndrome with athymhormia and hypoventilation]. 57 25
1604112 1992
8
Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. 25 57
2247238 1990
9
Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. 25 57
3352925 1988
10
Hereditary mental depression and Parkinsonism with taurine deficiency. 25 57
1122173 1975
11
DCTN1 p.K56R in progressive supranuclear palsy. 25 61
27132499 2016
12
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. 61 25
24797316 2014
13
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 25 61
24676999 2014
14
Three families with Perry syndrome from distinct parts of the world. 61 25
24881494 2014
15
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. 61 25
24484619 2014
16
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. 25 61
24500497 2014
17
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. 61 25
23628468 2013
18
Autonomic failures in Perry syndrome with DCTN1 mutation. 25 61
20702129 2010
19
Transcranial sonography in Perry syndrome. 61 25
19505837 2010
20
Characterization of DCTN1 genetic variability in neurodegeneration. 61 25
19506225 2009
21
Pallidonigral TDP-43 pathology in Perry syndrome. 25 61
18723384 2009
22
Neurodegeneration involving putative respiratory neurons in Perry syndrome. 25 61
17576579 2008
23
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. 25 61
17870652 2008
24
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. 25
27025386 2016
25
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. 25
25382069 2015
26
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. 25
25109764 2014
27
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 25
23143281 2013
28
The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. 25
22542187 2012
29
Dynactin is required for transport initiation from the distal axon. 25
22542186 2012
30
Autosomal dominant tauopathy with parkinsonism and central hypoventilation. 25
22357714 2012
31
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. 25
18852346 2008
32
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 25
16505168 2006
33
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 25
16240349 2005
34
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. 25
15852399 2005
35
[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]. 25
16149212 2005
36
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 25
15326253 2004
37
Mutant dynactin in motor neuron disease. 25
12627231 2003
38
Familial parkinsonism with depression: a clinicopathological study. 25
8250534 1993
39
Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family - Long-term clinical follow-up. 61
33578072 2021
40
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. 61
33443672 2021
41
Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease. 61
33476877 2021
42
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. 61
32402491 2020
43
Cognitive and behavioral profile of Perry syndrome in two families. 61
32717578 2020
44
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. 61
32712562 2020
45
DCTN1-related Parkinson-plus disorder (Perry syndrome). 61
32434902 2020
46
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response. 61
32683437 2020
47
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation. 61
32325477 2020
48
Neuropathological findings in a South Korean patient with Perry syndrome. 61
31829926 2020
49
A case of Perry Syndrome responding to intestinal infusion of carbidopa/levodopa. 61
30377036 2019
50
p150glued deficiency impairs effective fusion between autophagosomes and lysosomes due to their redistribution to the cell periphery. 61
30366015 2019

Variations for Perry Syndrome

ClinVar genetic disease variations for Perry Syndrome:

6 (show top 50) (show all 378)
# 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.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 2:74605231-74605231 2:74378104-74378104
4 DCTN1 NM_004082.4(DCTN1):c.214A>C (p.Thr72Pro) SNV Pathogenic 21392 rs72466486 2:74605192-74605192 2:74378065-74378065
5 DCTN1 NM_004082.4(DCTN1):c.212G>C (p.Gly71Ala) SNV Pathogenic 21391 rs67586389 2:74605194-74605194 2:74378067-74378067
6 DCTN1 NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu) SNV Pathogenic 21390 rs67586389 2:74605194-74605194 2:74378067-74378067
7 DCTN1 NM_004082.4(DCTN1):c.200G>A (p.Gly67Asp) SNV Pathogenic 264687 rs886039228 2:74605206-74605206 2:74378079-74378079
8 DCTN1 NM_004082.4(DCTN1):c.156T>G (p.Phe52Leu) SNV Pathogenic 264685 rs886039227 2:74605250-74605250 2:74378123-74378123
9 DCTN1 NM_004082.4(DCTN1):c.233A>G (p.Tyr78Cys) SNV Pathogenic 264688 rs886039229 2:74605173-74605173 2:74378046-74378046
10 DCTN1 NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) SNV Pathogenic 264686 rs566433112 2:74605239-74605239 2:74378112-74378112
11 DCTN1 NM_004082.4(DCTN1):c.3652A>G (p.Thr1218Ala) SNV Uncertain significance 536146 rs886070472 2:74589226-74589226 2:74362099-74362099
12 DCTN1 NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) SNV Uncertain significance 898514 2:74592211-74592211 2:74365084-74365084
13 DCTN1 NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) SNV Uncertain significance 898515 2:74592698-74592698 2:74365571-74365571
14 DCTN1 NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) SNV Uncertain significance 898590 2:74594191-74594191 2:74367064-74367064
15 DCTN1 NM_004082.5(DCTN1):c.-162G>A SNV Uncertain significance 895732 2:74607326-74607326 2:74380199-74380199
16 DCTN1 NM_004082.5(DCTN1):c.-263C>G SNV Uncertain significance 895733 2:74607427-74607427 2:74380300-74380300
17 DCTN1 NM_004082.5(DCTN1):c.*111C>T SNV Uncertain significance 896792 2:74588515-74588515 2:74361388-74361388
18 DCTN1 NM_004082.4(DCTN1):c.2559C>T (p.Ala853=) SNV Uncertain significance 728350 rs770872113 2:74593655-74593655 2:74366528-74366528
19 DCTN1 NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) SNV Uncertain significance 897361 2:74590475-74590475 2:74363348-74363348
20 DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 2:74594023-74594023 2:74366896-74366896
21 DCTN1 NM_004082.5(DCTN1):c.345A>G (p.Lys115=) SNV Uncertain significance 897552 2:74604788-74604788 2:74377661-74377661
22 DCTN1 NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) SNV Uncertain significance 264686 rs566433112 2:74605239-74605239 2:74378112-74378112
23 DCTN1 NM_004082.4(DCTN1):c.2290G>A (p.Val764Ile) SNV Uncertain significance 565854 rs753618444 2:74594198-74594198 2:74367071-74367071
24 DCTN1 NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) SNV Uncertain significance 843850 2:74596507-74596507 2:74369380-74369380
25 DCTN1 NM_004082.4(DCTN1):c.2016-6C>A SNV Uncertain significance 656503 rs1573155729 2:74594997-74594997 2:74367870-74367870
26 DCTN1 NM_004082.4(DCTN1):c.3425A>G (p.Glu1142Gly) SNV Uncertain significance 657154 rs1573142045 2:74590225-74590225 2:74363098-74363098
27 DCTN1 NM_004082.4(DCTN1):c.3643C>T (p.Pro1215Ser) SNV Uncertain significance 657312 rs184147813 2:74589235-74589235 2:74362108-74362108
28 DCTN1 NM_004082.4(DCTN1):c.1316T>C (p.Met439Thr) SNV Uncertain significance 657980 rs1573161529 2:74597168-74597168 2:74370041-74370041
29 DCTN1 NM_004082.4(DCTN1):c.1584+5A>G SNV Uncertain significance 658060 rs1283119090 2:74596422-74596422 2:74369295-74369295
30 DCTN1 NM_004082.4(DCTN1):c.142_143delinsAT (p.Gly48Ile) Indel Uncertain significance 658278 rs1573179028 2:74605263-74605264 2:74378136-74378137
31 DCTN1 NM_004082.4(DCTN1):c.1526C>T (p.Thr509Met) SNV Uncertain significance 660668 rs967117932 2:74596485-74596485 2:74369358-74369358
32 DCTN1 NM_004082.4(DCTN1):c.3545C>T (p.Ser1182Leu) SNV Uncertain significance 661256 rs975026607 2:74589841-74589841 2:74362714-74362714
33 DCTN1 NM_004082.4(DCTN1):c.824G>A (p.Arg275His) SNV Uncertain significance 393157 rs375266113 2:74598125-74598125 2:74370998-74370998
34 DCTN1 NM_004082.4(DCTN1):c.2083C>T (p.His695Tyr) SNV Uncertain significance 661544 rs756952260 2:74594924-74594924 2:74367797-74367797
35 DCTN1 NM_004082.4(DCTN1):c.2357A>G (p.Asp786Gly) SNV Uncertain significance 493281 rs752889408 2:74594019-74594019 2:74366892-74366892
36 DCTN1 NM_004082.4(DCTN1):c.742C>G (p.Leu248Val) SNV Uncertain significance 662640 rs112475795 2:74598207-74598207 2:74371080-74371080
37 DCTN1 NM_004082.4(DCTN1):c.2883T>G (p.Ile961Met) SNV Uncertain significance 662814 rs754893423 2:74593023-74593023 2:74365896-74365896
38 DCTN1 NM_004082.4(DCTN1):c.1288-10C>G SNV Uncertain significance 662913 rs72659375 2:74597206-74597206 2:74370079-74370079
39 DCTN1 NM_004082.4(DCTN1):c.45C>T (p.Gly15=) SNV Uncertain significance 663856 rs72466483 2:74605361-74605361 2:74378234-74378234
40 DCTN1 NM_004082.4(DCTN1):c.3728T>C (p.Val1243Ala) SNV Uncertain significance 665455 rs762752851 2:74588735-74588735 2:74361608-74361608
41 DCTN1 NM_004082.4(DCTN1):c.1288-6A>G SNV Uncertain significance 536164 rs1236101222 2:74597202-74597202 2:74370075-74370075
42 DCTN1 NM_004082.4(DCTN1):c.427C>T (p.Arg143Ter) SNV Uncertain significance 536163 rs781290307 2:74601455-74601455 2:74374328-74374328
43 DCTN1 NM_004082.4(DCTN1):c.2005C>T (p.Arg669Cys) SNV Uncertain significance 536162 rs150746209 2:74595108-74595108 2:74367981-74367981
44 DCTN1 NM_004082.4(DCTN1):c.559G>T (p.Ala187Ser) SNV Uncertain significance 536161 rs960727301 2:74598750-74598750 2:74371623-74371623
45 DCTN1 NM_004082.4(DCTN1):c.557C>T (p.Pro186Leu) SNV Uncertain significance 391470 rs916359967 2:74598752-74598752 2:74371625-74371625
46 DCTN1 NM_004082.4(DCTN1):c.629T>G (p.Leu210Arg) SNV Uncertain significance 566375 rs1558943273 2:74598680-74598680 2:74371553-74371553
47 DCTN1 NM_004082.4(DCTN1):c.2909A>G (p.Asn970Ser) SNV Uncertain significance 566389 rs568812456 2:74592762-74592762 2:74365635-74365635
48 DCTN1 NM_004082.4(DCTN1):c.823C>T (p.Arg275Cys) SNV Uncertain significance 567626 rs775294408 2:74598126-74598126 2:74370999-74370999
49 DCTN1 NM_004082.4(DCTN1):c.1997C>T (p.Thr666Met) SNV Uncertain significance 567916 rs143914684 2:74595116-74595116 2:74367989-74367989
50 DCTN1 NM_004082.4(DCTN1):c.2633A>G (p.Tyr878Cys) SNV Uncertain significance 568956 rs778201974 2:74593498-74593498 2:74366371-74366371

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
Show member pathways
13.04 VCP TARDBP SNCA MAPT DCTN2 DCTN1
2 12.04 VCP MAPT DCTN1 CLIP1 CHMP2B
3 11.7 TPH1 TH TARDBP SNCA MAPT HCRT
4
Show member pathways
10.66 TPH1 TH
5 10.58 DCTN2 DCTN1 BICD2

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 cytosol GO:0005829 10.27 VCP TPH1 TH SNCA MAPT FHIP1B
2 cytoplasm GO:0005737 10.21 VCP TPH1 TH TARDBP SNCA MAPT
3 cytoskeleton GO:0005856 10.05 SNCA MAPT MAPRE3 DCTN2 DCTN1 CLIP1
4 perinuclear region of cytoplasm GO:0048471 9.93 VCP TH SNCA MAPRE3 HCRT
5 neuron projection GO:0043005 9.83 TPH1 TH MAPT DCTN1 C9orf72
6 lysosome GO:0005764 9.8 TMEM106B SNCA GRN CHMP2B C9orf72
7 kinetochore GO:0000776 9.7 DCTN2 DCTN1 CLIP1
8 cytoplasmic stress granule GO:0010494 9.65 VCP TARDBP C9orf72
9 axon GO:0030424 9.65 TH SNCA MAPT DCTN1 C9orf72
10 microtubule cytoskeleton GO:0015630 9.62 MAPT MAPRE3 DCTN1 CLIP1
11 microtubule GO:0005874 9.55 MAPT MAPRE3 DCTN2 DCTN1 CLIP1
12 main axon GO:0044304 9.46 MAPT C9orf72
13 growth cone GO:0030426 9.26 SNCA MAPT DCTN2 C9orf72
14 microtubule plus-end GO:0035371 8.8 MAPRE3 DCTN1 CLIP1

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

(show all 16)
# 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 regulation of neurotransmitter secretion GO:0046928 9.56 SNCA HCRT
4 stress granule assembly GO:0034063 9.55 MAPT C9orf72
5 lysosomal transport GO:0007041 9.54 TMEM106B GRN
6 regulation of microtubule polymerization or depolymerization GO:0031110 9.52 MAPT MAPRE3
7 neuron cellular homeostasis GO:0070050 9.51 DCTN1 CHMP2B
8 supramolecular fiber organization GO:0097435 9.49 SNCA MAPT
9 regulation of microtubule polymerization GO:0031113 9.48 MAPT MAPRE3
10 synaptic transmission, dopaminergic GO:0001963 9.43 TH SNCA
11 cytoplasmic microtubule organization GO:0031122 9.43 MAPT DCTN1 CLIP1
12 dopamine biosynthetic process GO:0042416 9.37 TH SNCA
13 lysosome organization GO:0007040 9.33 TMEM106B GRN FHIP1B
14 aromatic amino acid family metabolic process GO:0009072 9.32 TPH1 TH
15 axonal transport GO:0098930 8.96 MAPT DCTN1
16 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 identical protein binding GO:0042802 9.86 VCP TH TARDBP SNCA MAPT MAPRE3
2 protein domain specific binding GO:0019904 9.67 VCP TH SNCA CHMP2B
3 tubulin binding GO:0015631 9.5 MAPT DCTN1 CLIP1
4 dynein complex binding GO:0070840 9.43 SNCA BICD2
5 dynactin binding GO:0034452 9.4 MAPT BICD2
6 microtubule binding GO:0008017 9.35 SNCA MAPT MAPRE3 DCTN1 CLIP1
7 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
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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