COL25A1 gene related symptoms and diseases
All the information presented here about the COL25A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL25A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ptosis | Very Common - Between 80% and 100% cases |
| Congenital ptosis | Common - Between 50% and 80% cases |
| Blepharophimosis | Common - Between 50% and 80% cases |
| Blepharospasm | Uncommon - Between 30% and 50% cases |
| Triphalangeal thumb | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COL25A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Chorioretinal coloboma
- Congenital sensorineural hearing impairment
- Preaxial hand polydactyly
- Ectopic kidney
- Aplasia/Hypoplasia of the thumb
- Absent radius
- Irregular hyperpigmentation
- Aniridia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL25A1 gene
Here you will find a list of rare diseases related to the COL25A1. 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
CONGENITAL PTOSIS
Description
Congenital ptosis is characterized by superior eyelid drop present at birth.
Most common symptoms of CONGENITAL PTOSIS
- Ptosis
- Blepharophimosis
- Ophthalmoplegia
- External ophthalmoplegia
- Congenital ptosis
More info about CONGENITAL PTOSIS
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5
Most common symptoms of FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5
- Ptosis
- Congenital ptosis
More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5
SOURCES: OMIM
Search interest in COL25A1
Potential gene panels for COL25A1 gene
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL25A1 gene.
More info about this panel Portugal.
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL25A1 gene.
More info about this panel Portugal.
COL25A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL25A1 gene.
More info about this panel United States.
Congenital Extraocular Muscles Fibrosis Type 5 , Sequencing COL25A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL25A1 gene.
More info about this panel Spain.
Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: COL25A1 KIF21A TUBB3 PHOX2A
More info about this panel Spain.
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