1. Mendelian
  2. Rare Disease Genes
  3. C8orf37-AS1

C8orf37-AS1 gene related symptoms and diseases

All the information presented here about the C8orf37-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to C8orf37-AS1 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Optic disc pallor Very Common - Between 80% and 100% cases
Temporal optic disc pallor Very Common - Between 80% and 100% cases
Chorioretinal degeneration Very Common - Between 80% and 100% cases
Bone spicule pigmentation of the retina Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with C8orf37-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Attenuation of retinal blood vessels
  • Peripheral visual field loss
  • Subcapsular cataract
  • Macular atrophy
  • Abnormality of color vision
  • Glucose intolerance
  • Constriction of peripheral visual field
  • Hand polydactyly

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to C8orf37-AS1 gene

Here you will find a list of rare diseases related to the C8orf37-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONE-ROD DYSTROPHY 16; CORD16

Alternate names

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Description

Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

Most common symptoms of CONE-ROD DYSTROPHY 16; CORD16

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


More info about CONE-ROD DYSTROPHY 16; CORD16

SOURCES: OMIM



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPTLC2 CDKAL1 AICDA TBCE KCNN4 BACH2 SLC25A46