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RAB33A gene related symptoms and diseases

All the information presented here about the RAB33A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RAB33A gene

Symptoms // Phenotype % Cases
Sensory axonal neuropathy Very Common - Between 80% and 100% cases
Muscle weakness Very Common - Between 80% and 100% cases
Areflexia Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Distal sensory impairment Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RAB33A gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Skeletal muscle atrophy
  • Hearing impairment
  • Global developmental delay
  • Sensory neuropathy

  • Not very common - Between 30% and 50% cases

  • Irritability
  • Developmental regression
  • Fasciculations
  • Polyneuropathy

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RAB33A gene

Here you will find a list of rare diseases related to the RAB33A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Alternate names

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation, charcot-marie-tooth disease with deafness and mental retardation, cowchock syndrome, nadmr, cmt4x, namsd, charcot-marie-tooth disease, x-linked recessive, 4, cmtx4

Description

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

Most common symptoms of X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

SOURCES: ORPHANET OMIM

X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS

Alternate names

X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS Is also known as x-linked hsan with deafness, x-linked auditory neuropathy with peripheral sensory neuropathy type 1, auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy, aunx1

Description

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.

Most common symptoms of X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia
  • Unsteady gait


More info about X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS

SOURCES: ORPHANET OMIM MESH

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

Alternate names

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY Is also known as mitochondrial encephalomyopathy due to coxpd6, mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6, encephalomyopathy, mitochondrial, x-linked

Description

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

Most common symptoms of SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Delayed speech and language development


More info about SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

SOURCES: ORPHANET OMIM


Potential gene panels for RAB33A gene

RAB33A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RAB33A gene.

More info about this panel
United States.

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