PERRYS
MCID: PRR007
MIFTS: 53

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 72 36 29 13 6 44 15 39 70
Parkinsonism with Alveolar Hypoventilation and Mental Depression 57 12 20 43 58 72
Perrys 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-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: 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.

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. Affiliated tissues include bone and brain, and 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 20-May-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 : 72 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 119)
# 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 28.8 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 gerstmann syndrome 10.2 MAPT GRN
20 simultanagnosia 10.2 TARDBP MAPT
21 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 MAPT GRN
22 visual agnosia 10.2 MAPT GRN
23 chromosome 17q21.31 duplication syndrome 10.2 SNCA MAPT
24 amyotrophic lateral sclerosis type 14 10.1 VCP CHMP2B
25 apperceptive agnosia 10.1 GRN C9orf72
26 amyotrophic lateral sclerosis type 22 10.1 TARDBP C9orf72
27 central hypoventilation syndrome, congenital 10.1 TPH1 TH HCRT
28 phenylketonuria 10.1 TPH1 TH HCRT
29 coenzyme q10 deficiency, primary, 1 10.1 SNCA MAPT
30 akinetic mutism 10.1 TARDBP SNCA MAPT
31 amyotrophic lateral sclerosis 11 10.1 TARDBP CHMP2B
32 machado-joseph disease 10.1 VCP TARDBP SNCA
33 olivopontocerebellar atrophy 10.1 TH SNCA MAPT
34 rem sleep behavior disorder 10.0 SNCA MAPT HCRT
35 toxic encephalopathy 10.0 TH SNCA MAPT
36 spinal muscular atrophy, distal, autosomal recessive, 4 10.0 TARDBP DCTN1 C9orf72
37 fatal familial insomnia 10.0 SNCA MAPT HCRT
38 gangliocytoma 10.0 TH C9orf72
39 anxiety 10.0 TPH1 TH SNCA HCRT
40 early-onset, autosomal dominant alzheimer disease 10.0 VCP MAPT GRN
41 amyotrophic lateral sclerosis type 15 10.0 CHMP2B C9orf72
42 inclusion body myositis 10.0 VCP TARDBP MAPT
43 alcohol dependence 10.0 TPH1 TH SNCA HCRT
44 myositis 10.0 VCP SNCA MAPT
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.0 TARDBP C9orf72
46 amyotrophic lateral sclerosis 16, juvenile 10.0 VCP CHMP2B
47 prion disease 10.0 TH SNCA MAPT
48 choreatic disease 10.0 TH SNCA C9orf72
49 postencephalitic parkinson disease 10.0 TH TARDBP SNCA MAPT
50 amyotrophic lateral sclerosis 8 10.0 VCP TARDBP C9orf72

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 20-May-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 20-May-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 10.25 BICD2 C9orf72 DCTN1 FHIP1B GRN HCRT
2 cellular MP:0005384 10.15 BICD2 C9orf72 CLIP1 DCTN1 GRN MAPT
3 growth/size/body region MP:0005378 10.13 BICD2 C9orf72 CHMP2B FHIP1B GRN HCRT
4 cardiovascular system MP:0005385 10.1 C9orf72 CHMP2B DCTN2 HCRT MAPRE3 MAPT
5 homeostasis/metabolism MP:0005376 10.03 C9orf72 CHMP2B DCTN1 FHIP1B GRN HCRT
6 integument MP:0010771 9.76 C9orf72 GRN MAPT SNCA TH TMEM106B
7 muscle MP:0005369 9.5 DCTN1 HCRT MAPT TARDBP TMEM106B TPH1
8 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

MalaCards organs/tissues related to Perry Syndrome:

40
Bone, Brain

Publications for Perry Syndrome

Articles related to Perry Syndrome:

(show top 50) (show all 79)
# Title Authors PMID Year
1
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. 61 57 6 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 25 6 57
20437543 2010
3
DCTN1 mutations in Perry syndrome. 61 25 57 6
19136952 2009
4
Elucidating the genetics and pathology of Perry syndrome. 61 25 57
19732908 2010
5
Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. 57 25 61
43704 1979
6
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 6 25
23143281 2013
7
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 6 25
16505168 2006
8
Mutant dynactin in motor neuron disease. 25 6
12627231 2003
9
Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. 25 57
11940687 2002
10
[Familial parkinsonian syndrome with athymhormia and hypoventilation]. 57 25
1604112 1992
11
Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. 57 25
2247238 1990
12
Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management. 25 57
3352925 1988
13
Hereditary mental depression and Parkinsonism with taurine deficiency. 57 25
1122173 1975
14
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 61 6
27573046 2016
15
DCTN1 p.K56R in progressive supranuclear palsy. 61 25
27132499 2016
16
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. 61 25
24797316 2014
17
Three families with Perry syndrome from distinct parts of the world. 61 25
24881494 2014
18
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 25 61
24676999 2014
19
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. 61 25
24484619 2014
20
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. 61 25
24500497 2014
21
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. 61 25
23628468 2013
22
Autonomic failures in Perry syndrome with DCTN1 mutation. 61 25
20702129 2010
23
Transcranial sonography in Perry syndrome. 25 61
19505837 2010
24
Characterization of DCTN1 genetic variability in neurodegeneration. 61 25
19506225 2009
25
Pallidonigral TDP-43 pathology in Perry syndrome. 61 25
18723384 2009
26
Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 6
19279216 2009
27
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 6
18364389 2008
28
Neurodegeneration involving putative respiratory neurons in Perry syndrome. 61 25
17576579 2008
29
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. 61 25
17870652 2008
30
The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 6
18094236 2007
31
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. 25
27025386 2016
32
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. 25
25382069 2015
33
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. 25
25109764 2014
34
Dynactin is required for transport initiation from the distal axon. 25
22542186 2012
35
The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. 25
22542187 2012
36
Autosomal dominant tauopathy with parkinsonism and central hypoventilation. 25
22357714 2012
37
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
38
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 25
16240349 2005
39
Distal spinal and bulbar muscular atrophy caused by dynactin mutation. 25
15852399 2005
40
[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)]. 25
16149212 2005
41
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 25
15326253 2004
42
Familial parkinsonism with depression: a clinicopathological study. 25
8250534 1993
43
Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family - Long-term clinical follow-up. 61
33578072 2021
44
Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease. 61
33476877 2021
45
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. 61
33443672 2021
46
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. 61
32402491 2020
47
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. 61
32712562 2020
48
DCTN1-related Parkinson-plus disorder (Perry syndrome). 61
32434902 2020
49
Cognitive and behavioral profile of Perry syndrome in two families. 61
32717578 2020
50
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response. 61
32683437 2020

Variations for Perry Syndrome

ClinVar genetic disease variations for Perry Syndrome:

6 (show top 50) (show all 419)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCTN1 NM_004082.4(DCTN1):c.211G>A (p.Gly71Arg) SNV Pathogenic 8406 rs72466485 GRCh37: 2:74605195-74605195
GRCh38: 2:74378068-74378068
2 DCTN1 NM_004082.4(DCTN1):c.221A>C (p.Gln74Pro) SNV Pathogenic 8407 rs72466487 GRCh37: 2:74605185-74605185
GRCh38: 2:74378058-74378058
3 DCTN1 NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu) SNV Pathogenic 21390 rs67586389 GRCh37: 2:74605194-74605194
GRCh38: 2:74378067-74378067
4 DCTN1 NM_004082.4(DCTN1):c.212G>C (p.Gly71Ala) SNV Pathogenic 21391 rs67586389 GRCh37: 2:74605194-74605194
GRCh38: 2:74378067-74378067
5 DCTN1 NM_004082.4(DCTN1):c.214A>C (p.Thr72Pro) SNV Pathogenic 21392 rs72466486 GRCh37: 2:74605192-74605192
GRCh38: 2:74378065-74378065
6 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
7 DCTN1 NM_004082.4(DCTN1):c.200G>A (p.Gly67Asp) SNV Pathogenic 264687 rs886039228 GRCh37: 2:74605206-74605206
GRCh38: 2:74378079-74378079
8 DCTN1 NM_004082.4(DCTN1):c.156T>G (p.Phe52Leu) SNV Pathogenic 264685 rs886039227 GRCh37: 2:74605250-74605250
GRCh38: 2:74378123-74378123
9 DCTN1 NM_004082.4(DCTN1):c.233A>G (p.Tyr78Cys) SNV Pathogenic 264688 rs886039229 GRCh37: 2:74605173-74605173
GRCh38: 2:74378046-74378046
10 DCTN1 NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) SNV Pathogenic 264686 rs566433112 GRCh37: 2:74605239-74605239
GRCh38: 2:74378112-74378112
11 DCTN1 NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) SNV Uncertain significance 264686 rs566433112 GRCh37: 2:74605239-74605239
GRCh38: 2:74378112-74378112
12 DCTN1 NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) SNV Uncertain significance 898514 GRCh37: 2:74592211-74592211
GRCh38: 2:74365084-74365084
13 DCTN1 NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) SNV Uncertain significance 898515 GRCh37: 2:74592698-74592698
GRCh38: 2:74365571-74365571
14 DCTN1 NM_004082.4(DCTN1):c.2559C>T (p.Ala853=) SNV Uncertain significance 728350 rs770872113 GRCh37: 2:74593655-74593655
GRCh38: 2:74366528-74366528
15 DCTN1 NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) SNV Uncertain significance 897361 GRCh37: 2:74590475-74590475
GRCh38: 2:74363348-74363348
16 DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 GRCh37: 2:74594023-74594023
GRCh38: 2:74366896-74366896
17 DCTN1 NM_004082.5(DCTN1):c.345A>G (p.Lys115=) SNV Uncertain significance 897552 GRCh37: 2:74604788-74604788
GRCh38: 2:74377661-74377661
18 DCTN1 NM_004082.4(DCTN1):c.3652A>G (p.Thr1218Ala) SNV Uncertain significance 536146 rs886070472 GRCh37: 2:74589226-74589226
GRCh38: 2:74362099-74362099
19 DCTN1 NM_004082.5(DCTN1):c.1048+4A>G SNV Uncertain significance 933372 GRCh37: 2:74597744-74597744
GRCh38: 2:74370617-74370617
20 DCTN1 NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu) SNV Uncertain significance 933697 GRCh37: 2:74592246-74592246
GRCh38: 2:74365119-74365119
21 DCTN1 NM_004082.4(DCTN1):c.3302G>A (p.Arg1101Lys) SNV Uncertain significance 8405 rs121909345 GRCh37: 2:74590464-74590464
GRCh38: 2:74363337-74363337
22 DCTN1 NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) SNV Uncertain significance 934831 GRCh37: 2:74588732-74588732
GRCh38: 2:74361605-74361605
23 DCTN1 NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu) SNV Uncertain significance 936348 GRCh37: 2:74589844-74589844
GRCh38: 2:74362717-74362717
24 DCTN1 NM_004082.5(DCTN1):c.1774A>G (p.Met592Val) SNV Uncertain significance 937584 GRCh37: 2:74595935-74595935
GRCh38: 2:74368808-74368808
25 DCTN1 NM_004082.4(DCTN1):c.3250C>T (p.Pro1084Ser) SNV Uncertain significance 196128 rs201918007 GRCh37: 2:74590516-74590516
GRCh38: 2:74363389-74363389
26 DCTN1 NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg) SNV Uncertain significance 940244 GRCh37: 2:74604581-74604581
GRCh38: 2:74377454-74377454
27 DCTN1 NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) SNV Uncertain significance 941160 GRCh37: 2:74588721-74588721
GRCh38: 2:74361594-74361594
28 DCTN1 NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp) SNV Uncertain significance 941726 GRCh37: 2:74595246-74595246
GRCh38: 2:74368119-74368119
29 DCTN1 NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn) SNV Uncertain significance 941854 GRCh37: 2:74598273-74598273
GRCh38: 2:74371146-74371146
30 DCTN1 NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn) SNV Uncertain significance 942361 GRCh37: 2:74592328-74592328
GRCh38: 2:74365201-74365201
31 DCTN1 NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg) SNV Uncertain significance 943070 GRCh37: 2:74590189-74590189
GRCh38: 2:74363062-74363062
32 DCTN1 NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser) SNV Uncertain significance 943362 GRCh37: 2:74598762-74598762
GRCh38: 2:74371635-74371635
33 DCTN1 NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn) SNV Uncertain significance 943363 GRCh37: 2:74594942-74594942
GRCh38: 2:74367815-74367815
34 DCTN1 NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile) SNV Uncertain significance 944781 GRCh37: 2:74590148-74590148
GRCh38: 2:74363021-74363021
35 DCTN1 NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu) SNV Uncertain significance 946272 GRCh37: 2:74594194-74594194
GRCh38: 2:74367067-74367067
36 DCTN1 NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr) SNV Uncertain significance 946666 GRCh37: 2:74588745-74588745
GRCh38: 2:74361618-74361618
37 DCTN1 NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly) SNV Uncertain significance 946725 GRCh37: 2:74595896-74595896
GRCh38: 2:74368769-74368769
38 DCTN1 NM_004082.5(DCTN1):c.33+3A>G SNV Uncertain significance 947814 GRCh37: 2:74607129-74607129
GRCh38: 2:74380002-74380002
39 DCTN1 NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp) SNV Uncertain significance 948254 GRCh37: 2:74592757-74592757
GRCh38: 2:74365630-74365630
40 DCTN1 NM_004082.5(DCTN1):c.1844T>A (p.Leu615His) SNV Uncertain significance 948598 GRCh37: 2:74595865-74595865
GRCh38: 2:74368738-74368738
41 DCTN1 NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala) SNV Uncertain significance 949227 GRCh37: 2:74590474-74590474
GRCh38: 2:74363347-74363347
42 DCTN1 NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter) SNV Uncertain significance 949985 GRCh37: 2:74595240-74595240
GRCh38: 2:74368113-74368113
43 DCTN1 NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg) SNV Uncertain significance 950607 GRCh37: 2:74590243-74590243
GRCh38: 2:74363116-74363116
44 DCTN1 NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala) SNV Uncertain significance 951968 GRCh37: 2:74593626-74593626
GRCh38: 2:74366499-74366499
45 DCTN1 NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu) SNV Uncertain significance 952198 GRCh37: 2:74594904-74594904
GRCh38: 2:74367777-74367777
46 DCTN1 NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) SNV Uncertain significance 873284 GRCh37: 2:74594488-74594488
GRCh38: 2:74367361-74367361
47 DCTN1 NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) SNV Uncertain significance 955557 GRCh37: 2:74589849-74589849
GRCh38: 2:74362722-74362722
48 DCTN1 NM_004082.5(DCTN1):c.2808del (p.Asp937fs) Deletion Uncertain significance 955782 GRCh37: 2:74593098-74593098
GRCh38: 2:74365971-74365971
49 DCTN1 NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr) SNV Uncertain significance 957294 GRCh37: 2:74605146-74605146
GRCh38: 2:74378019-74378019
50 DCTN1 NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys) SNV Uncertain significance 958903 GRCh37: 2:74590438-74590438
GRCh38: 2:74363311-74363311

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

72
# 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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