DAB1 gene related symptoms and diseases

All the information presented here about the DAB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DAB1 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Falls Very Common - Between 80% and 100% cases
Limb dysmetria Very Common - Between 80% and 100% cases
Diffuse cerebellar atrophy Very Common - Between 80% and 100% cases
Scanning speech Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DAB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cogwheel rigidity
  • Cerebellar vermis atrophy
  • Dysdiadochokinesis
  • Horizontal nystagmus
  • Truncal ataxia
  • Frequent falls
  • Clumsiness
  • Sensory impairment

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DAB1 gene

Here you will find a list of rare diseases related to the DAB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 37


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 37 Is also known as sca37, spinocerebellar ataxia with altered vertical eye movements

Description

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 37

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Dysarthria


More info about SPINOCEREBELLAR ATAXIA TYPE 37

SOURCES: ORPHANET OMIM


Potential gene panels for DAB1 gene

DAB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DAB1 gene.

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


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