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.
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
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
Search interest in CHN1
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 Portugal.
Duane Retraction Syndrome 2 Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the CHN1 gene.
More info about this panel United Kingdom.
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 United States.
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 United States.
Single gene testing CHN1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CHN1 gene.
More info about this panel Germany.
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 Spain.
CHN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHN1 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 United States.
Duane Syndrome, Sequencing CHN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHN1 gene.
More info about this panel Spain.
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