CAMTA1 gene related symptoms and diseases
All the information presented here about the CAMTA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CAMTA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Aggressive behavior | Common - Between 50% and 80% cases |
| Hyperactivity | Common - Between 50% and 80% cases |
| Autistic behavior | Common - Between 50% and 80% cases |
| Behavioral abnormality | Uncommon - Between 30% and 50% cases |
| Abnormality of movement | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CAMTA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cough
- Attention deficit hyperactivity disorder
- Anxiety
- Autism
- Myoclonus
- Pectus excavatum
- Depressivity
- Intellectual disability
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CAMTA1 gene
Here you will find a list of rare diseases related to the CAMTA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY
Description
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Most common symptoms of NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY
EPITHELIOID HEMANGIOENDOTHELIOMA
GILLES DE LA TOURETTE SYNDROME; GTS
Alternate names
GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts, tourette syndrome, tourette disorder
Description
Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).
Most common symptoms of GILLES DE LA TOURETTE SYNDROME; GTS
- Behavioral abnormality
- Depressivity
- Pectus excavatum
- Myoclonus
- Hyperactivity
More info about GILLES DE LA TOURETTE SYNDROME; GTS
Search interest in CAMTA1
Potential gene panels for CAMTA1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Cerebellar ataxia, nonprogressive, with mental retardation Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CAMTA1 gene.
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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
CAMTA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CAMTA1 gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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