MCID: ADC005

Adcy5-Related Dyskinesia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Adcy5-Related Dyskinesia

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Aliases & Descriptions for Adcy5-Related Dyskinesia:

Name: Adcy5-Related Dyskinesia 23 47 25
Dyskinesia, Familial, with Facial Myokymia 47 24 67
Fdfm 47 24 25
 
Familial Dyskinesia with Facial Myokymia 24 25
Familial Dyskinesia and Facial Myokymia 47

Characteristics:

GeneReviews:

23
Penetrance: in the few documented cases of adcy5 dyskinesia, penetrance has been 100% in both men and women...


Classifications:



Summaries for Adcy5-Related Dyskinesia

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Genetics Home Reference:25 ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.

MalaCards based summary: Adcy5-Related Dyskinesia, also known as dyskinesia, familial, with facial myokymia, is related to dyskinesia, familial, with facial myokymia, and has symptoms including dystonia and myokymia. An important gene associated with Adcy5-Related Dyskinesia is ADCY5 (Adenylate Cyclase 5).

GeneReviews for NBK263441

Related Diseases for Adcy5-Related Dyskinesia

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

idRelated DiseaseScoreTop Affiliating Genes
1dyskinesia, familial, with facial myokymia12.5

Symptoms for Adcy5-Related Dyskinesia

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UMLS symptoms related to Adcy5-Related Dyskinesia:


dystonia, myokymia

Drugs & Therapeutics for Adcy5-Related Dyskinesia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Adcy5-Related Dyskinesia

Genetic Tests for Adcy5-Related Dyskinesia

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Anatomical Context for Adcy5-Related Dyskinesia

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Animal Models for Adcy5-Related Dyskinesia or affiliated genes

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Publications for Adcy5-Related Dyskinesia

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Articles related to Adcy5-Related Dyskinesia:

idTitleAuthorsYear
1
ADCY5-Related Dyskinesia (25521004)
1993

Variations for Adcy5-Related Dyskinesia

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Clinvar genetic disease variations for Adcy5-Related Dyskinesia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADCY5NM_183357.2(ADCY5): c.1252C> T (p.Arg418Trp)SNVPathogenicrs864309483GRCh37Chr 3, 123071311: 123071311
2ADCY5NM_183357.2(ADCY5): c.2176G> A (p.Ala726Thr)SNVPathogenicrs796065306GRCh37Chr 3, 123038601: 123038601
3ADCY5NM_183357.2(ADCY5): c.3086T> A (p.Met1029Lys)SNVPathogenicrs864309484GRCh37Chr 3, 123010201: 123010201
4ADCY5NM_183357.2(ADCY5): c.2088+1G> TSNVPathogenicrs797045002GRCh38Chr 3, 123325321: 123325321
5ADCY5NM_183357.2(ADCY5): c.1253G> A (p.Arg418Gln)SNVPathogenicrs864309515GRCh38Chr 3, 123352463: 123352463
6ADCY5NM_183357.2(ADCY5): c.2088+1G> ASNVPathogenicrs797045002GRCh38Chr 3, 123325321: 123325321

Expression for genes affiliated with Adcy5-Related Dyskinesia

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Search GEO for disease gene expression data for Adcy5-Related Dyskinesia.

Pathways for genes affiliated with Adcy5-Related Dyskinesia

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GO Terms for genes affiliated with Adcy5-Related Dyskinesia

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Sources for Adcy5-Related Dyskinesia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet