1. Mendelian
  2. Rare Disease Genes
  3. CEP126

CEP126 gene related symptoms and diseases

All the information presented here about the CEP126 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.

Table of contents:

Top 5 symptoms and clinical features associated to CEP126 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Abnormality of the upper limb Very Common - Between 80% and 100% cases
Nonprogressive muscular atrophy Very Common - Between 80% and 100% cases
Cervical spinal cord atrophy Very Common - Between 80% and 100% cases
Interosseus muscle atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEP126 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Progressive spinal muscular atrophy
  • Distal upper limb amyotrophy
  • Upper limb amyotrophy
  • Abnormal anterior horn cell morphology
  • Cervical myelopathy
  • Abnormality of peripheral nerve conduction
  • Myelopathy
  • Degeneration of anterior horn cells

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

Rare diseases associated to CEP126 gene

Here you will find a list of rare diseases related to the CEP126. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHY, MONOMELIC

Alternate names

AMYOTROPHY, MONOMELIC Is also known as hirayama disease, spinal muscular atrophy, juvenile, nonprogressive

Description

Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005).

Most common symptoms of AMYOTROPHY, MONOMELIC

  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Tremor
  • Proximal muscle weakness


More info about AMYOTROPHY, MONOMELIC

SOURCES: ORPHANET OMIM


Potential gene panels for CEP126 gene

CEP126 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEP126 gene.

More info about this panel
United States.

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