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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for CYP26C1 gene

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

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 panel


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