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 48 25
Dyskinesia, Familial, with Facial Myokymia 48 24 68
Fdfm 48 24 25
 
Familial Dyskinesia with Facial Myokymia 24 25
Familial Dyskinesia and Facial Myokymia 48

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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NIH Rare Diseases:48 ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy. Last updated: 9/16/2015

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).

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.

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 & Phenotypes 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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet