FDFM
MCID: ADC005
MIFTS: 14

Adcy5-Related Dyskinesia (FDFM)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Adcy5-Related Dyskinesia

MalaCards integrated aliases for Adcy5-Related Dyskinesia:

Name: Adcy5-Related Dyskinesia 25 54 26
Dyskinesia, Familial, with Facial Myokymia 54 74
Fdfm 54 26
Familial Dyskinesia with Facial Myokymia 26
Familial Dyskinesia and Facial Myokymia 54

Characteristics:

GeneReviews:

25
Penetrance In the few documented cases of adcy5 dyskinesia, penetrance has been 100% in both men and women...

Classifications:



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UMLS 74 C1847627

Summaries for Adcy5-Related Dyskinesia

NIH Rare Diseases : 54 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.

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

Genetics Home Reference : 26 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 12.8
2 dystonia 10.2
3 depression 10.2
4 myoclonus 10.2

Symptoms & Phenotypes for Adcy5-Related Dyskinesia

UMLS symptoms related to Adcy5-Related Dyskinesia:


dystonia, myokymia

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
Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum? ( 30172639 )
2018
2
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. ( 28229249 )
2017
3
ADCY5-Related Dyskinesia ( 25521004 )
1993

Variations for Adcy5-Related Dyskinesia

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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