FZD5 gene related symptoms and diseases
All the information presented here about the FZD5 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 FZD5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Macular coloboma | Rare - less than 30% cases |
| Postnatal growth retardation | Rare - less than 30% cases |
| Morning glory anomaly | Rare - less than 30% cases |
| Remnants of the hyaloid vascular system | Rare - less than 30% cases |
| Peters anomaly | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with FZD5 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Optic nerve coloboma
- Increased intraocular pressure
- Chorioretinal coloboma
- Aortic aneurysm
- Aganglionic megacolon
- Vesicoureteral reflux
- Microcornea
- Iris coloboma
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FZD5 gene
Here you will find a list of rare diseases related to the FZD5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COLOBOMA OF MACULA
Alternate names
COLOBOMA OF MACULA Is also known as agenesis of macula
Description
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Most common symptoms of COLOBOMA OF MACULA
- Macular coloboma
More info about COLOBOMA OF MACULA
COLOBOMA OF EYE LENS
COLOBOMA OF IRIS
Alternate names
COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina, coi, coloboma, uveoretinal
Description
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).
Most common symptoms of COLOBOMA OF IRIS
- Intellectual disability
- Microcephaly
- Growth delay
- Hypertelorism
- Nystagmus
More info about COLOBOMA OF IRIS
COLOBOMA OF EYELID
COLOBOMA OF CHOROID AND RETINA
Description
Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
More info about COLOBOMA OF CHOROID AND RETINA
SOURCES: ORPHANET
COLOBOMA OF OPTIC DISC
Alternate names
COLOBOMA OF OPTIC DISC Is also known as coloboma of optic papilla
Description
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).
More info about COLOBOMA OF OPTIC DISC
SOURCES: ORPHANET
Search interest in FZD5
Potential gene panels for FZD5 gene
FZD5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FZD5 gene.
More info about this panel United States.
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