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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM

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


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

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

COL25A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL25A1 gene.

More info about this panel

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

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


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