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

SOURCES: OMIM ORPHANET


Potential gene panels for PLG gene

Genetic Renal Panel Panel

United States.

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 panel
United States.

PLG Sequencing Panel

United States.

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 panel
United States.

PLG Deletion/duplication analysis Panel

United States.

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 panel
United States.

Plasminogen deficiency type I (sequence analysis of PLG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PLG gene.

More info about this panel
Portugal.

Plasminogen deficiency type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PLG gene.

More info about this panel
Germany.

PLG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLG gene.

More info about this panel
United States.

PLASMINOGEN DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PLG gene.

More info about this panel
Spain.

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

Spain.

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 panel
Spain.

Plasminogen Deficiency Type 1 , Sequencing PLG Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PLG gene.

More info about this panel
Spain.

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