POFUT1 gene related symptoms and diseases
All the information presented here about the POFUT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POFUT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Erythema | Very Common - Between 80% and 100% cases |
| Papule | Very Common - Between 80% and 100% cases |
| Acantholysis | Very Common - Between 80% and 100% cases |
| Facial erythema | Very Common - Between 80% and 100% cases |
| Reticular hyperpigmentation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POFUT1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Acne
- Hypermelanotic macule
- Epidermoid cyst
- Epidermal thickening
- Seborrheic keratosis
- Progressive reticulate hyperpigmentation
- Hyperkeratosis
- Follicular hyperkeratosis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POFUT1 gene
Here you will find a list of rare diseases related to the POFUT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DOWLING-DEGOS DISEASE
Alternate names
DOWLING-DEGOS DISEASE Is also known as ddd, reticular pigment anomaly of flexures
Description
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013).
Most common symptoms of DOWLING-DEGOS DISEASE
- Erythema
- Papule
- Acne
- Hypermelanotic macule
- Acantholysis
DOWLING-DEGOS DISEASE 2; DDD2
Description
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013).
Most common symptoms of DOWLING-DEGOS DISEASE 2; DDD2
- Hyperkeratosis
- Erythema
- Papule
- Follicular hyperkeratosis
- Acantholysis
SOURCES: OMIM
Search interest in POFUT1
Potential gene panels for POFUT1 gene
POFUT1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the POFUT1 gene.
More info about this panelGenetic disorders with abnormal pigmentation Panel Panel
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panelPOFUT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POFUT1 gene.
More info about this panelDowling-Degos Disease Type 2 , Sequencing POFUT1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the POFUT1 gene.
More info about this panelDowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: POFUT1 ADAM10 ADAR POGLUT1 KRT14 KRT5
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