MCID: ADC009
MIFTS: 8

Adcy5 Dyskinesia

Aliases & Classifications for Adcy5 Dyskinesia

MalaCards integrated aliases for Adcy5 Dyskinesia:

Name: Adcy5 Dyskinesia 25

Characteristics:

GeneReviews:

25
Penetrance In molecularly confirmed adcy5 dyskinesia, penetrance has been 100% in both men and women.

Summaries for Adcy5 Dyskinesia

MalaCards based summary : Adcy5 Dyskinesia is related to chorea, childhood-onset, with psychomotor retardation and choreatic disease. An important gene associated with Adcy5 Dyskinesia is ADCY5 (Adenylate Cyclase 5).

GeneReviews: NBK263441

Related Diseases for Adcy5 Dyskinesia

Diseases related to Adcy5 Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chorea, childhood-onset, with psychomotor retardation 10.2
2 choreatic disease 10.2
3 dystonia 10.2
4 hypotonia 10.2
5 myoclonus 10.2
6 athetosis 10.0
7 encephalopathy 10.0
8 hypertonia 10.0
9 tremor 10.0
10 dementia pugilistica 10.0

Graphical network of the top 20 diseases related to Adcy5 Dyskinesia:



Diseases related to Adcy5 Dyskinesia

Symptoms & Phenotypes for Adcy5 Dyskinesia

Drugs & Therapeutics for Adcy5 Dyskinesia

Search Clinical Trials , NIH Clinical Center for Adcy5 Dyskinesia

Genetic Tests for Adcy5 Dyskinesia

Anatomical Context for Adcy5 Dyskinesia

Publications for Adcy5 Dyskinesia

Articles related to Adcy5 Dyskinesia:

(show all 30)
# Title Authors PMID Year
1
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. 25 61
31970214 2020
2
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation. 25
31501304 2019
3
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder. 25
31538084 2019
4
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders. 25
30975617 2019
5
Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain. 25
29473048 2018
6
Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. 25
28971144 2017
7
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
8
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 25
28511835 2017
9
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
10
Adenylyl cyclase signalling complexes - Pharmacological challenges and opportunities. 25
28132906 2017
11
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. 25
27666935 2017
12
Deep Brain Stimulation in an Additional Patient With ADCY5-Related Movement Disorder. 25
27920267 2017
13
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. 25
27931826 2017
14
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity. 25
27933653 2017
15
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 25
27052971 2016
16
Phenotypic insights into ADCY5-associated disease. 25
27061943 2016
17
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 25
27058447 2016
18
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. 25
26686870 2016
19
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 25
26537056 2015
20
ADCY5 mutations are another cause of benign hereditary chorea. 25
26085604 2015
21
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
22
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. 25
25545163 2015
23
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 25
24700542 2014
24
Tardive dyskinesia syndromes: current concepts. 25
24262160 2014
25
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 25
22782511 2012
26
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. 25
22454269 2012
27
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 25
22101681 2011
28
Modulation of beta-adrenergic receptor signaling in heart failure and longevity: targeting adenylyl cyclase type 5. 25
20658186 2010
29
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 25
11310626 2001
30
ADCY5 Dyskinesia 61
25521004 2014

Variations for Adcy5 Dyskinesia

Expression for Adcy5 Dyskinesia

Search GEO for disease gene expression data for Adcy5 Dyskinesia.

Pathways for Adcy5 Dyskinesia

GO Terms for Adcy5 Dyskinesia

Sources for Adcy5 Dyskinesia

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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