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.

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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.


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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET MESH OMIM


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

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

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

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

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

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

Single gene testing ADCY5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ADCY5 gene.

More info about this panel

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

ADCY5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADCY5 gene.

More info about this panel

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

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

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


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