PSENEN gene related symptoms and diseases

All the information presented here about the PSENEN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PSENEN gene

Symptoms // Phenotype % Cases
Reticular hyperpigmentation Very Common - Between 80% and 100% cases
Acne Very Common - Between 80% and 100% cases
Papule Very Common - Between 80% and 100% cases
Erythema Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PSENEN gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Perifolliculitis
  • Chronic furunculosis
  • Acne inversa
  • Recurrent cutaneous abscess formation
  • Follicular hyperkeratosis
  • Atrophic scars
  • Squamous cell carcinoma
  • Epidermal acanthosis

And 12 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 PSENEN gene

Here you will find a list of rare diseases related to the PSENEN. 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

ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2


Description

Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Most common symptoms of ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring


More info about ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

SOURCES: OMIM


Potential gene panels for PSENEN gene

PSENEN Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PSENEN gene.

More info about this panel

Autoinflammatory panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

PSENEN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PSENEN gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Autoinflammatory Syndrome Panel Panel

Finland.

By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

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 GABRA5 DIABLO PSEN2 ABCC8 WDR73

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more