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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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). Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK ), reticulate acropigmentation of Dohi (RAD ), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment DisordersDowling-Degos disease-2 (DDD2 ) is caused by mutation in the POFUT1 gene (OMIM ) on chromosome 20q11. Dowling-Degos disease-3 (DDD3 ) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4 ) is caused by mutation in the POGLUT1 gene (OMIM ) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH ), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (OMIM ) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK ) is caused by mutation in the ADAM10 gene (OMIM ) on chromosome 15q21.

Most common symptoms of DOWLING-DEGOS DISEASE

  • Erythema
  • Papule
  • Acne
  • Hypermelanotic macule
  • Acantholysis


More info about DOWLING-DEGOS DISEASE

SOURCES: OMIM ORPHANET

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). Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.For a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.

Most common symptoms of DOWLING-DEGOS DISEASE 2; DDD2

  • Hyperkeratosis
  • Erythema
  • Papule
  • Follicular hyperkeratosis
  • Acantholysis


More info about DOWLING-DEGOS DISEASE 2; DDD2

SOURCES: OMIM


Potential gene panels for POFUT1 gene

POFUT1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the POFUT1 gene.

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

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 panel

POFUT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POFUT1 gene.

More info about this panel

Dowling-Degos Disease Type 2 , Sequencing POFUT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POFUT1 gene.

More info about this panel

Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PTGER3 MCPH1-AS1 FUCA1 ATP2B3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more