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.
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).
Most common symptoms of DOWLING-DEGOS DISEASE
- Erythema
- Papule
- Acne
- Hypermelanotic macule
- Acantholysis
DOWLING-DEGOS DISEASE 4; DDD4
Most common symptoms of DOWLING-DEGOS DISEASE 4; DDD4
- Hyperhidrosis
- Papule
- Pruritus
- Epidermal acanthosis
- Hypergranulosis
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
Search interest in POGLUT1
Potential gene panels for POGLUT1 gene
POGLUT1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the POGLUT1 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 panelPOGLUT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POGLUT1 gene.
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
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 panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
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 panelDowling-Degos Disease Type 4 , Sequencing POGLUT1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the POGLUT1 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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