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  3. POGLUT1

POGLUT1 gene related symptoms and diseases

All the information presented here about the POGLUT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to POGLUT1 gene

Symptoms // Phenotype % Cases
Papule Common - Between 50% and 80% cases
Acantholysis Common - Between 50% and 80% cases
Erythema Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Mildly elevated creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with POGLUT1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Skeletal muscle hypertrophy
  • Limb-girdle muscular dystrophy
  • Scapular winging
  • Lower limb muscle weakness
  • Limb muscle weakness
  • Muscular dystrophy
  • Proximal muscle weakness
  • Elevated serum creatine phosphokinase

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POGLUT1 gene

Here you will find a list of rare diseases related to the POGLUT1. 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 4; DDD4

Most common symptoms of DOWLING-DEGOS DISEASE 4; DDD4

  • Hyperhidrosis
  • Papule
  • Pruritus
  • Epidermal acanthosis
  • Hypergranulosis


More info about DOWLING-DEGOS DISEASE 4; DDD4

SOURCES: OMIM

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Z

Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Z Is also known as lgmd2z, muscular dystrophy, limb-girdle, type 2z

Description

Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy (summary by Servian-Morilla et al., 2016).For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (OMIM ).

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Z

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase


More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Z

SOURCES: ORPHANET OMIM


Potential gene panels for POGLUT1 gene

POGLUT1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the POGLUT1 gene.

More info about this panel
Germany.

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
Germany.

POGLUT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POGLUT1 gene.

More info about this panel
United States.

LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel
Finland.

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel
Finland.

Dowling-Degos Disease Type 4 , Sequencing POGLUT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the POGLUT1 gene.

More info about this panel
Spain.

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
Spain.

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