PLG gene related symptoms and diseases
All the information presented here about the PLG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLG gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Duodenal ulcer | Very Common - Between 80% and 100% cases |
Recurrent bronchitis | Very Common - Between 80% and 100% cases |
Abnormality of the larynx | Very Common - Between 80% and 100% cases |
Stomatitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent pharyngitis
- Poor wound healing
- Keratoconjunctivitis
- Gastrointestinal inflammation
- Gingivitis
- Hyperreflexia
- Abnormality of the mediastinum
- Abnormality of fontanelles
And 46 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLG gene
Here you will find a list of rare diseases related to the PLG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LIGNEOUS CONJUNCTIVITIS
Alternate names
LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa
Description
Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).
Most common symptoms of LIGNEOUS CONJUNCTIVITIS
- Global developmental delay
- Hyperreflexia
- Macrocephaly
- Hydrocephalus
- Blindness
More info about LIGNEOUS CONJUNCTIVITIS
SOURCES: ORPHANET
HYPOPLASMINOGENEMIA
Alternate names
HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1
Description
Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.
Most common symptoms of HYPOPLASMINOGENEMIA
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hyperreflexia
- Macrocephaly
More info about HYPOPLASMINOGENEMIA
Search interest in PLG
Potential gene panels for PLG gene
Genetic Renal Panel Panel
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics Genetic Renal Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1
More info about this panelPLG Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PLG gene.
More info about this panelPLG Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PLG gene.
More info about this panelPlasminogen deficiency type I (sequence analysis of PLG gene) Panel
By CGC Genetics
This panel specifically test the PLG gene.
More info about this panelPlasminogen deficiency type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PLG gene.
More info about this panelPLG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLG gene.
More info about this panelPLASMINOGEN DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PLG gene.
More info about this panelATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3
More info about this panelPlasminogen Deficiency Type 1 , Sequencing PLG Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PLG gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BARX1 PDSS2 NCKAP5 ITPR1 SMCHD1 PIEZO1 LAMA1