ADCY5 gene related symptoms and diseases

All the information presented here about the ADCY5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC.

Top 5 symptoms associated to ADCY5 gene



Symptoms // Phenotype % Cases
Abnormality of movement Very Common - Between 80% and 100% cases
Chorea Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Anxiety Uncommon - Between 30% and 50% cases
Paroxysmal dyskinesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ADCY5 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Myokymia Limb hypertonia Resting tremor Involuntary movements Choreoathetosis Athetosis Dyskinesia Juvenile onset

And 19 more phenotypes.

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Rare diseases associated to ADCY5 gene

Here you will find a list of rare diseases related to the ADCY5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHOREA, BENIGN FAMILIAL

Alternate names

CHOREA, BENIGN FAMILIAL Is also known as ;bhc; benign familial chorea

Most common symptoms of CHOREA, BENIGN FAMILIAL

  • Autosomal recessive inheritance
  • Gait disturbance
  • Abnormality of movement
  • Chorea


More info about CHOREA, BENIGN FAMILIAL

SOURCES: OMIM ORPHANET UMLS SCTID

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM

Alternate names

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM Is also known as ;fdfm

Description

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

Most common symptoms of DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM

  • Autosomal dominant inheritance
  • Generalized hypotonia
  • Motor delay
  • Milia
  • Myopathy


More info about DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM

SOURCES: MESH UMLS MONDO OMIM ORPHANET GARD

Potential gene panels for ADCY5 gene

Dystonia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Dystonia Exome Panel that also includes the following genes: AARS2 UQCRQ ATP7B AUH BCS1L PSEN1 GLB1 HPRT1 POLG NDUFS4

More info about this panel

Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center in Germany. Neurogenetic Disorders - panels that also includes the following genes: MTHFR TTR UBE3A AARS2 ABHD12 ACAD9 ACADM ACADS AGL ACADVL

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

Choreatic Movement Disorders Panel Panel

By CeGaT GmbH in Germany. Choreatic Movement Disorders Panel that also includes the following genes: HTT OPA3 GM2A ATXN1 ATM C9orf72 ATXN2 ATXN3 ATXN7 TBP

More info about this panel

Paroxysmal Dyskinesia Panel Panel

By CeGaT GmbH in Germany. Paroxysmal Dyskinesia Panel that also includes the following genes: PNKD SLC2A1 KCNMA1 PRRT2 SCN8A ADCY5

More info about this panel

Dystonia All Panel Panel

By CeGaT GmbH in Germany. Dystonia All Panel that also includes the following genes: ATP7A ATP7B AUH PANK2 MECP2 SPR TIMM8A HEXA SLC25A15 GCDH

More info about this panel

Single gene testing ADCY5 Panel

By CeGaT GmbH in Germany.

This panel specifically test the ADCY5 gene.

More info about this panel

Dystonia Panel

By Asper Biogene Asper Biogene LLC in Estonia. Dystonia that also includes the following genes: ATP7B PANK2 SPR TIMM8A GCDH PRKN PNKD ARSA SLC2A1 ATM

More info about this panel

ADCY5 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADCY5 gene.

More info about this panel

Dystonia Panel Panel

By Blueprint Genetics in Finland. Dystonia Panel that also includes the following genes: SPR PNKD SLC2A1 TH TOR1A THAP1 GCH1 SGCE FA2H ATP1A3

More info about this panel

Familial Dyskinesia with Facial Myokymia , Sequencing ADCY5 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ADCY5 gene.

More info about this panel


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