CYP26C1 gene related symptoms and diseases
All the information presented here about the CYP26C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CYP26C1 gene
Symptoms // Phenotype | % Cases |
---|---|
Microcephaly | Very Common - Between 80% and 100% cases |
Hemangioma | Very Common - Between 80% and 100% cases |
Abnormality of buccal mucosa | Very Common - Between 80% and 100% cases |
Abnormal mast cell morphology | Very Common - Between 80% and 100% cases |
Fragmented elastic fibers in the dermis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CYP26C1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the cheek
- Unilateral cleft lip
- Aplasia cutis congenita
- Skin vesicle
- Cupped ear
- Intracranial hemorrhage
- Dermal atrophy
- Cutis laxa
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CYP26C1 gene
Here you will find a list of rare diseases related to the CYP26C1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FOCAL FACIAL DERMAL DYSPLASIA TYPE IV
Alternate names
FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv, focal facial dermal dysplasia 4, focal facial preauricular dysplasia, ffdd4
Description
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
Most common symptoms of FOCAL FACIAL DERMAL DYSPLASIA TYPE IV
- Microcephaly
- Cleft palate
- Hydrocephalus
- Cleft lip
- Sparse hair
More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV
Search interest in CYP26C1
Potential gene panels for CYP26C1 gene
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XPR1 CCND2 TMEM126A FOXC2 GBA2 TRAP1 MVK