CHN1 gene related symptoms and diseases

All the information presented here about the CHN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHN1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Amblyopia Very Common - Between 80% and 100% cases
Ptosis Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

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

  • Aplasia/Hypoplasia of the thumb
  • Ectopic kidney
  • Absent radius
  • Irregular hyperpigmentation
  • Abnormal vertebral segmentation and fusion
  • Aniridia
  • External ear malformation

And 54 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CHN1 gene

Here you will find a list of rare diseases related to the CHN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DUANE RETRACTION SYNDROME


Alternate names

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome, duane syndrome, durs, drs

Description

Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

Most common symptoms of DUANE RETRACTION SYNDROME

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


More info about DUANE RETRACTION SYNDROME

SOURCES: ORPHANET OMIM

DUANE RETRACTION SYNDROME 2; DURS2


Description

Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010).For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (OMIM ).

Most common symptoms of DUANE RETRACTION SYNDROME 2; DURS2

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Ptosis


More info about DUANE RETRACTION SYNDROME 2; DURS2

SOURCES: OMIM


Potential gene panels for CHN1 gene

Duane retraction syndrome 2 (sequence analysis of CHN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CHN1 gene.

More info about this panel

Duane Retraction Syndrome 2 Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the CHN1 gene.

More info about this panel

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A

More info about this panel

Duane Retraction Syndrome Type 2 via the CHN1 GeneDuane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CHN1 gene.

More info about this panel

Single gene testing CHN1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CHN1 gene.

More info about this panel

Duane Syndrome: CHN1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CHN1 gene.

More info about this panel

CHN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHN1 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

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

Duane Syndrome, Sequencing CHN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHN1 gene.

More info about this panel


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