PERRYS
MCID: PRR007
MIFTS: 55

Perry Syndrome (PERRYS) malady

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

Aliases & Classifications for Perry Syndrome

Aliases & Descriptions for Perry Syndrome:

Name: Perry Syndrome 54 12 23 50 24 25 56 66 13 42 14 69
Parkinsonism with Alveolar Hypoventilation and Mental Depression 12 50 24 25 56 66
Perrys 66 29

Characteristics:

Orphanet epidemiological data:

56
perry syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

GeneReviews:

23
perry syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course rapidly progressive


GeneReviews:

23
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 168605
Disease Ontology 12 DOID:0060486
Orphanet 56 ORPHA178509
MedGen 40 C1868594

Summaries for Perry Syndrome

OMIM : 54 Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset... (168605) more...

MalaCards based summary : Perry Syndrome, also known as parkinsonism with alveolar hypoventilation and mental depression, is related to brunsting-perry syndrome and social emotional agnosia, and has symptoms including tremor, personality changes and depression. An important gene associated with Perry Syndrome is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Capecitabine and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

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

Genetics Home Reference : 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.

UniProtKB/Swiss-Prot : 66 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 61)
id Related Disease Score Top Affiliating Genes
1 brunsting-perry syndrome 12.0
2 social emotional agnosia 10.3 GRN TARDBP
3 color agnosia 10.3 GRN TARDBP
4 autoimmune disease of blood 10.3 GRN TARDBP
5 multiple system atrophy 10.2 SLC18A2 SNCA
6 osteogenesis imperfecta, type vi 10.2 C9orf72 TARDBP
7 epidermal appendage tumor 10.2 C9orf72 TH
8 protein r deficiency 10.2 GRN MAPT
9 pancreatic cancer/melanoma syndrome 10.1 C9orf72 GRN TARDBP
10 gata1-related thrombocytopenia 10.1 GRN MAPT
11 hereditary paraganglioma-pheochromocytoma syndromes 10.1 GRN MAPT
12 choanal atresia, unilateral 10.1 TAC1 TACR1
13 nephrogenic adenoma of the urethra 10.1 SLC18A2 SLC6A3 SNCA
14 febrile seizures, familial, 10 10.1 TAC1 TACR1
15 lower gum cancer 10.1 SLC6A3 SNCA
16 riedel's fibrosing thyroiditis 10.1 MAPT SNCA TARDBP
17 spink1-related hereditary pancreatitis 10.1 MAPT SNCA
18 acrofrontofacionasal dysostosis 10.1 GRN MAPT TARDBP
19 postauricular lymphadenitis 10.1 GRN MAPT TARDBP
20 scrotum basal cell carcinoma 10.0 MAPT SLC6A3
21 mental depression 10.0
22 ovarian mucinous adenocarcinoma 10.0 SLC18A2 SLC6A3 SNCA TH
23 cerebroretinal vasculopathy 10.0 C9orf72 GRN MAPT
24 acne inversa, familial, 3 10.0 MAPT SNCA TARDBP
25 autism spectrum disorder 10.0 GRN SLC6A3 TAC1
26 spinal cord glioma 10.0 C9orf72 TARDBP
27 femoral neuropathy 10.0 GRN MAPT SLC6A3
28 deafness, autosomal recessive 101 10.0 MAPT SNCA
29 chronic conjunctivitis 10.0 SLC18A2 SLC6A3 TPH1
30 stereotypic movement disorder 10.0 C9orf72 DCTN1 TARDBP
31 autotopagnosia 10.0 C9orf72 GRN MAPT
32 benign partial epilepsy with secondarily generalized seizures in infancy 10.0 MAPT SLC6A3 SNCA
33 benign epilepsy with centrotemporal spikes 10.0 SLC18A2 TACR1 TH TPH1
34 preeclampsia/eclampsia 5 10.0 SLC18A2 SLC6A3 SNCA TPH1
35 juvenile amyotrophic lateral sclerosis with dementia 9.9 CASP8 MAPT SNCA
36 severe congenital nemaline myopathy 9.9 C9orf72 GRN MAPT TARDBP
37 andersen syndrome 9.9 C9orf72 GRN MAPT TARDBP
38 adult mesenchymal chondrosarcoma 9.9 C9orf72 GRN MAPT TARDBP
39 pancreatic solid pseudopapillary carcinoma 9.9 C9orf72 GRN MAPT TARDBP
40 hypoproteinemia, hypercatabolic 9.9 C9orf72 MAPT SNCA TARDBP
41 angina pectoris 9.9 C9orf72 GRN MAPT TARDBP
42 autism 19 9.9 MAPT SLC6A3 SNCA TH
43 neuronitis 9.9
44 mucopolysaccharidosis iv 9.8 C9orf72 DCTN1 GRN MAPT TARDBP
45 autoimmune disease of urogenital tract 9.8 C9orf72 GRN MAPT SNCA TARDBP
46 ellis-van creveld syndrome 9.8 SLC18A2 SLC6A3 TACR1 TH TPH1
47 cardiomyopathy, dilated, 1u 9.8 C9orf72 GRN MAPT SNCA TARDBP
48 meier-gorlin syndrome 5 9.8 GRN MAPT SLC6A3 SNCA TH
49 cavernous hemangioma 9.8 MAPT SLC18A2 SLC6A3 SNCA TH
50 gallbladder adenoma 9.8 MAPT SLC18A2 SLC6A3 SNCA TH

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



Diseases related to Perry Syndrome

Symptoms & Phenotypes for Perry Syndrome

Symptoms by clinical synopsis from OMIM:

168605

Clinical features from OMIM:

168605

Human phenotypes related to Perry Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 56 32 Very frequent (99-80%) HP:0001337
2 personality changes 56 32 Occasional (29-5%) HP:0000751
3 depression 56 32 Very frequent (99-80%) HP:0000716
4 sleep disturbance 56 32 Very frequent (99-80%) HP:0002360
5 hypotension 56 32 Occasional (29-5%) HP:0002615
6 weight loss 56 32 Very frequent (99-80%) HP:0001824
7 dementia 56 32 Occasional (29-5%) HP:0000726
8 apathy 56 32 Very frequent (99-80%) HP:0000741
9 parkinsonism 56 32 Very frequent (99-80%) HP:0001300
10 central hypoventilation 56 32 Very frequent (99-80%) HP:0007110
11 abnormality of extrapyramidal motor function 56 Very frequent (99-80%)
12 bradykinesia 32 HP:0002067
13 dysarthria 32 HP:0001260
14 respiratory insufficiency 32 HP:0002093
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 mask-like facies 32 HP:0000298
17 rigidity 32 HP:0002063
18 insomnia 32 HP:0100785
19 weak voice 32 HP:0001621
20 hypoventilation 32 HP:0002791
21 vertical supranuclear gaze palsy 32 HP:0000511
22 inappropriate behavior 32 HP:0000719
23 short stepped shuffling gait 32 HP:0007311

UMLS symptoms related to Perry Syndrome:


sleeplessness

MGI Mouse Phenotypes related to Perry Syndrome:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 C9orf72 DCTN1 GRN MAF MAPT SLC18A2
2 homeostasis/metabolism MP:0005376 10.25 C9orf72 CASP8 DCTN1 GRN MAF MAPT
3 cellular MP:0005384 10.18 C9orf72 CASP8 DCTN1 GRN MAPT SLC18A2
4 growth/size/body region MP:0005378 10.16 MAF MAPT SLC18A2 SLC6A3 SNCA TARDBP
5 cardiovascular system MP:0005385 10.1 CASP8 MAPT SLC18A2 SNCA TAC1 TACR1
6 immune system MP:0005387 10.06 C9orf72 CASP8 GRN MAF MAPT SLC6A3
7 mortality/aging MP:0010768 10.06 C9orf72 CASP8 DCTN1 GRN MAF MAPT
8 integument MP:0010771 10.02 TPH1 CASP8 MAF MAPT SLC6A3 SNCA
9 nervous system MP:0003631 9.93 MAPT SLC18A2 SLC6A3 SNCA TACR1 TARDBP
10 muscle MP:0005369 9.73 CASP8 MAPT SLC18A2 SLC6A3 TARDBP TPH1
11 no phenotypic analysis MP:0003012 9.43 SNCA TARDBP TH C9orf72 GRN MAPT
12 taste/olfaction MP:0005394 8.92 MAPT SLC18A2 SLC6A3 SNCA

Drugs & Therapeutics for Perry Syndrome

Drugs for Perry Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
2
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
3
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
4
Amitriptyline Approved Phase 3 50-48-6 2160
5
Baclofen Approved Phase 3 1134-47-0 2284
6
Ketamine Approved, Vet_approved Phase 3,Phase 2 6740-88-1 3821
7
Perphenazine Approved Phase 3 58-39-9 4748
8
Fluorouracil Approved Phase 3 51-21-8 3385
9
Levoleucovorin Approved Phase 3 68538-85-2
10
Magnesium Sulfate Approved, Vet_approved Phase 3 7487-88-9 24083
11
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
12
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
13
Norepinephrine Approved Phase 3 51-41-2 439260
14
Azacitidine Approved, Investigational Phase 3,Phase 2 320-67-2 9444
15
4-Aminopyridine Approved Phase 3 504-24-5 1727
16
Loteprednol Approved Phase 3 82034-46-6, 129260-79-3 444025 9865442
17
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
18
Cytarabine Approved, Investigational Phase 3,Phase 2 147-94-4 6253
19
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
20
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
21
Bevacizumab Approved, Investigational Phase 3 216974-75-3
22
Gabapentin Approved, Investigational Phase 2, Phase 3 60142-96-3 3446
23
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
25
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
26
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
27
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
28
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
30 Antimetabolites Phase 3,Phase 2
31 Antimetabolites, Antineoplastic Phase 3,Phase 2
32 Keratolytic Agents Phase 3
33 Micronutrients Phase 3
34 Trace Elements Phase 3
35 Vitamin B 6 Phase 3
36 Vitamin B Complex Phase 3
37 Vitamins Phase 3
38 Albumin-Bound Paclitaxel Phase 3
39 Antimitotic Agents Phase 3
40 Antineoplastic Agents, Phytogenic Phase 3
41 Adrenergic Agents Phase 3
42 Amitriptyline, perphenazine drug combination Phase 3
43 Analgesics Phase 3,Phase 2
44 Analgesics, Non-Narcotic Phase 3
45 Anesthetics Phase 3,Phase 2
46 Anesthetics, Dissociative Phase 3,Phase 2
47 Anesthetics, General Phase 3,Phase 2
48 Anesthetics, Intravenous Phase 3,Phase 2
49 Antidepressive Agents Phase 3
50 Antidepressive Agents, Tricyclic Phase 3

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-d) (Protocol JNJ-27018966IBS3001) Completed NCT01553591 Phase 3
2 Pyridoxine and Topical Urea/Lactic Acid-Based Cream in Preventing Hand-Foot Syndrome in Patients Receiving Capecitabine for Breast Cancer or Other Cancer Completed NCT00296036 Phase 3
3 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
4 Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer Completed NCT02311907 Phase 3
5 Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00516503 Phase 3
6 Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy Completed NCT01099449 Phase 3
7 Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00489411 Phase 3
8 Vitamin E in Preventing Peripheral Neuropathy Caused by Chemotherapy in Patients Receiving Chemotherapy for Cancer Completed NCT00363129 Phase 3
9 Phase 3 Study to Evaluate Efficacy of Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS) Recruiting NCT02970162 Phase 3
10 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3
11 Safety and Efficacy of KPI-121 Compared to Placebo in Subjects With Dry Eye Disease Recruiting NCT02819284 Phase 3
12 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
13 Intraoperative Low-dose Ketamine Infusion for Patients With Obstructive Sleep Apnea Recruiting NCT03109418 Phase 2, Phase 3
14 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
15 Lamictal in the Treatment of Post-Herpetic Neuralgia Terminated NCT00295776 Phase 2, Phase 3
16 Vatalanib in Treating Patients With Primary or Secondary Myelodysplastic Syndromes Completed NCT00072475 Phase 2
17 Azacitidine With or Without Entinostat in Treating Patients With Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Completed NCT00313586 Phase 2
18 MLE4901 vs. Placebo for the Treatment of PCOS Recruiting NCT02865915 Phase 2
19 Combination Chemotherapy and Dasatinib in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Active, not recruiting NCT01238211 Phase 2
20 Obstructive Sleep Apnea and Genes Expression Unknown status NCT01392339
21 Acute Pain Caused by Paclitaxel in Patients With Cancer Completed NCT00860041
22 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
23 Chromosome 18 Clinical Research Center Recruiting NCT00227253
24 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Recruiting NCT01431326
25 Cytogenetic Studies in Acute Leukemia and Multiple Myeloma Active, not recruiting NCT00048958
26 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276
27 Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients Available NCT02189720

Search NIH Clinical Center for Perry Syndrome

Cochrane evidence based reviews: perry syndrome

Genetic Tests for Perry Syndrome

Genetic tests related to Perry Syndrome:

id Genetic test Affiliating Genes
1 Perry Syndrome 29 24 DCTN1

Anatomical Context for Perry Syndrome

MalaCards organs/tissues related to Perry Syndrome:

39
Brain

Publications for Perry Syndrome

Articles related to Perry Syndrome:

(show all 16)
id Title Authors Year
1
Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome. ( 27346608 )
2016
2
Impulse control disorders and punding in Perry syndrome. ( 26411500 )
2015
3
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. ( 24500497 )
2014
4
Three families with Perry syndrome from distinct parts of the world. ( 24881494 )
2014
5
Expansion of the clinicopathological and mutational spectrum of Perry syndrome. ( 24484619 )
2014
6
Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. ( 23628468 )
2013
7
Transcranial sonography in Perry syndrome. ( 19505837 )
2010
8
Autonomic failures in Perry syndrome with DCTN1 mutation. ( 20702129 )
2010
9
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. ( 20437543 )
2010
10
Elucidating the genetics and pathology of Perry syndrome. ( 19732908 )
2010
11
Pallidonigral TDP-43 pathology in Perry syndrome. ( 18723384 )
2009
12
DCTN1 mutations in Perry syndrome. ( 19136952 )
2009
13
Neurodegeneration involving putative respiratory neurons in Perry syndrome. ( 17576579 )
2008
14
Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. ( 17870652 )
2008
15
Perry Syndrome ( 20945553 )
1993
16
Localized cicatricial pemphigoid (Brunsting-Perry syndrome). ( 3536333 )
1986

Variations for Perry Syndrome

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

66
id 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
7 DCTN1 p.Tyr78Cys VAR_071453

ClinVar genetic disease variations for Perry Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
2 DCTN1 NM_004082.4(DCTN1): c.211G> A (p.Gly71Arg) single nucleotide variant Pathogenic rs72466485 GRCh37 Chromosome 2, 74605195: 74605195
3 DCTN1 NM_004082.4(DCTN1): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic rs72466487 GRCh37 Chromosome 2, 74605185: 74605185
4 DCTN1 NM_004082.4(DCTN1): c.212G> A (p.Gly71Glu) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
5 DCTN1 NM_004082.4(DCTN1): c.212G> C (p.Gly71Ala) single nucleotide variant Pathogenic rs67586389 GRCh37 Chromosome 2, 74605194: 74605194
6 DCTN1 NM_004082.4(DCTN1): c.214A> C (p.Thr72Pro) single nucleotide variant Pathogenic rs72466486 GRCh37 Chromosome 2, 74605192: 74605192
7 DCTN1 NM_004082.4(DCTN1): c.233A> G (p.Tyr78Cys) single nucleotide variant Pathogenic rs886039229 GRCh38 Chromosome 2, 74378046: 74378046
8 DCTN1 NM_004082.4(DCTN1): c.200G> A (p.Gly67Asp) single nucleotide variant Pathogenic rs886039228 GRCh37 Chromosome 2, 74605206: 74605206
9 DCTN1 NM_004082.4(DCTN1): c.167A> G (p.Lys56Arg) single nucleotide variant Pathogenic rs566433112 GRCh38 Chromosome 2, 74378112: 74378112
10 DCTN1 NM_004082.4(DCTN1): c.156T> G (p.Phe52Leu) single nucleotide variant Pathogenic rs886039227 GRCh38 Chromosome 2, 74378123: 74378123

Expression for Perry Syndrome

Search GEO for disease gene expression data for Perry Syndrome.

Pathways for Perry Syndrome

GO Terms for Perry Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.62 CASP8 SLC6A3 TH TPH1
2 cytoplasmic vesicle membrane GO:0030659 9.54 SLC18A2 SNCA TH
3 synaptic vesicle GO:0008021 9.43 SLC18A2 SNCA TH
4 neuronal cell body GO:0043025 9.35 MAPT SLC6A3 SNCA TAC1 TH
5 cell body GO:0044297 9.33 CASP8 MAPT TACR1
6 axon GO:0030424 9.02 MAPT SLC6A3 SNCA TAC1 TH

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.82 SLC6A3 TACR1 TH
2 chemical synaptic transmission GO:0007268 9.81 SLC18A2 SNCA TAC1 TACR1
3 response to estradiol GO:0032355 9.78 CASP8 TACR1 TH
4 locomotory behavior GO:0007626 9.75 SLC18A2 SLC6A3 TH
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.74 CASP8 MAPT SNCA
6 response to lipopolysaccharide GO:0032496 9.73 CASP8 SNCA TAC1 TH
7 response to morphine GO:0043278 9.67 TAC1 TACR1
8 associative learning GO:0008306 9.66 TAC1 TACR1
9 response to electrical stimulus GO:0051602 9.66 TACR1 TH
10 eating behavior GO:0042755 9.65 TACR1 TH
11 response to amphetamine GO:0001975 9.65 SLC18A2 TH
12 response to immobilization stress GO:0035902 9.65 TH TPH1
13 response to pain GO:0048265 9.64 TAC1 TACR1
14 synaptic transmission, dopaminergic GO:0001963 9.63 SNCA TH
15 positive regulation of microtubule polymerization GO:0031116 9.63 DCTN1 MAPT
16 positive regulation of ossification GO:0045778 9.62 TAC1 TACR1
17 neurotransmitter biosynthetic process GO:0042136 9.62 SLC6A3 TH
18 microglial cell activation GO:0001774 9.61 MAPT SNCA
19 positive regulation of renal sodium excretion GO:0035815 9.6 TAC1 TACR1
20 supramolecular fiber organization GO:0097435 9.59 MAPT SNCA
21 positive regulation of synaptic transmission, GABAergic GO:0032230 9.58 TAC1 TACR1
22 monoamine transport GO:0015844 9.56 SLC18A2 SLC6A3
23 positive regulation of lymphocyte proliferation GO:0050671 9.55 TAC1 TACR1
24 aromatic amino acid family metabolic process GO:0009072 9.54 TH TPH1
25 tachykinin receptor signaling pathway GO:0007217 9.52 TAC1 TACR1
26 dopamine transport GO:0015872 9.49 SLC18A2 SLC6A3
27 positive regulation of action potential GO:0045760 9.48 TAC1 TACR1
28 dopamine uptake involved in synaptic transmission GO:0051583 9.46 SLC6A3 SNCA
29 positive regulation of synaptic transmission, cholinergic GO:0032224 9.4 TAC1 TACR1
30 positive regulation of saliva secretion GO:0046878 9.37 TAC1 TACR1
31 response to nicotine GO:0035094 9.33 SLC6A3 TACR1 TH
32 detection of abiotic stimulus GO:0009582 9.32 TAC1 TACR1
33 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.26 SLC18A2 TH
34 response to ethanol GO:0045471 9.26 CASP8 SLC6A3 TACR1 TH
35 dopamine biosynthetic process GO:0042416 8.8 SLC6A3 SNCA TH

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

id Name GO ID Score Top Affiliating Genes
1 protein phosphatase 2A binding GO:0051721 9.4 MAPT SLC6A3
2 amino acid binding GO:0016597 9.37 TH TPH1
3 dynein complex binding GO:0070840 9.32 DCTN1 SNCA
4 ferrous iron binding GO:0008198 9.26 SNCA TH
5 dopamine binding GO:0035240 9.16 SLC6A3 TH
6 monoamine transmembrane transporter activity GO:0008504 8.96 SLC18A2 SLC6A3
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 8.62 TH TPH1

Sources for Perry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....