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: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features 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 |
| Gait disturbance | Uncommon - Between 30% and 50% cases |
| Paroxysmal dyskinesia | Uncommon - Between 30% and 50% cases |
| Orofacial dyskinesia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
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
- Delayed gross motor development
- Involuntary movements
- Choreoathetosis
- Dyskinesia
- Dilated cardiomyopathy
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
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.
BENIGN HEREDITARY CHOREA
Alternate names
BENIGN HEREDITARY CHOREA Is also known as benign familial chorea, bhc
Most common symptoms of BENIGN HEREDITARY CHOREA
- Gait disturbance
- Abnormality of movement
- Chorea
More info about BENIGN HEREDITARY CHOREA
FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA
Alternate names
FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA 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 FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA
- Intellectual disability
- Generalized hypotonia
- Motor delay
- Hyperreflexia
- Dysarthria
More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA
Search interest in ADCY5
Potential gene panels for ADCY5 gene
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Choreatic Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panel Germany.
Paroxysmal Dyskinesia Panel Panel
Germany.
By CeGaT GmbH Paroxysmal Dyskinesia Panel that also includes the following genes: SCN8A SLC2A1 ADCY5 PRRT2 KCNMA1 PNKD
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing ADCY5 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ADCY5 gene.
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
ADCY5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADCY5 gene.
More info about this panel United States.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
Familial Dyskinesia with Facial Myokymia , Sequencing ADCY5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ADCY5 gene.
More info about this panel Spain.
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