MCID: ADC005
MIFTS: 12

Adcy5-Related Dyskinesia

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Adcy5-Related Dyskinesia

MalaCards integrated aliases for Adcy5-Related Dyskinesia:

Name: Adcy5-Related Dyskinesia 23 49 24
Dyskinesia, Familial, with Facial Myokymia 49 69
Fdfm 49 24
Familial Dyskinesia with Facial Myokymia 24
Familial Dyskinesia and Facial Myokymia 49

Characteristics:

GeneReviews:

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

Classifications:



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UMLS 69 C1847627

Summaries for Adcy5-Related Dyskinesia

NIH Rare Diseases : 49 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. These abnormal movements are often continuous during waking hours and may persist during sleep, resulting in disrupted sleep cycles. 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: 10/23/2017

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 myokymia and dystonia. An important gene associated with Adcy5-Related Dyskinesia is ADCY5 (Adenylate Cyclase 5).

Genetics Home Reference : 24 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: NBK263441

Related Diseases for Adcy5-Related Dyskinesia

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

# Related Disease Score Top Affiliating Genes
1 dyskinesia, familial, with facial myokymia 12.6

Symptoms & Phenotypes for Adcy5-Related Dyskinesia

UMLS symptoms related to Adcy5-Related Dyskinesia:


myokymia, dystonia

Drugs & Therapeutics for Adcy5-Related Dyskinesia

Search Clinical Trials , NIH Clinical Center for Adcy5-Related Dyskinesia

Genetic Tests for Adcy5-Related Dyskinesia

Anatomical Context for Adcy5-Related Dyskinesia

Publications for Adcy5-Related Dyskinesia

Articles related to Adcy5-Related Dyskinesia:

# Title Authors Year
1
ADCY5-Related Dyskinesia ( 25521004 )
1993

Variations for Adcy5-Related Dyskinesia

ClinVar genetic disease variations for Adcy5-Related Dyskinesia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY5 NM_183357.2(ADCY5): c.3086T> A (p.Met1029Lys) single nucleotide variant Pathogenic rs864309484 GRCh37 Chromosome 3, 123010201: 123010201
2 ADCY5 NM_183357.2(ADCY5): c.2176G> A (p.Ala726Thr) single nucleotide variant Pathogenic rs796065306 GRCh37 Chromosome 3, 123038601: 123038601
3 ADCY5 NM_183357.2(ADCY5): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic rs864309483 GRCh37 Chromosome 3, 123071311: 123071311
4 ADCY5 NM_183357.2(ADCY5): c.2088+1G> T single nucleotide variant Pathogenic rs797045002 GRCh38 Chromosome 3, 123325321: 123325321
5 ADCY5 NM_183357.2(ADCY5): c.2088+1G> A single nucleotide variant Pathogenic rs797045002 GRCh38 Chromosome 3, 123325321: 123325321
6 ADCY5 NM_183357.2(ADCY5): c.1253G> A (p.Arg418Gln) single nucleotide variant Pathogenic rs864309515 GRCh38 Chromosome 3, 123352463: 123352463

Expression for Adcy5-Related Dyskinesia

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

Pathways for Adcy5-Related Dyskinesia

GO Terms for Adcy5-Related Dyskinesia

Sources for Adcy5-Related Dyskinesia

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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31 HPO
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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