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.

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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

SOURCES: OMIM ORPHANET

EPITHELIOID HEMANGIOENDOTHELIOMA



More info about EPITHELIOID HEMANGIOENDOTHELIOMA

SOURCES: MESH ORPHANET

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

SOURCES: MESH OMIM


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

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

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

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

CAMTA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CAMTA1 gene.

More info about this panel

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

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

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

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


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