Plasminogen deficiency, type I

Preferred Label : Plasminogen deficiency, type I;

Type : Phenotype, molecular basis known;

Included titles and symbols : Ligneous conjunctivitis; Dysplasminogenemia; Plasminogen deficiency, type II;

Description : Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic muscosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plasminogen gene (PLG, 173350.0001);

Laboratory abnormalities : Decreased plasminogen antigen; Decreased plasminogen activity; Subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues;

Prefixed ID : #217090;

Details

Origin ID

217090;

UMLS CUI

C1968804;

Automatic exact mappings (from CISMeF team)
- Dysplasminogenemia [PASCAL descriptor]
- Hypoplasminogenemia [PASCAL descriptor]
- Ligneous conjunctivitis [ICD-11 Subcategory]
- Ligneous conjunctivitis [MedDRA Preferred Term]
- Ligneous conjunctivitis (disorder) [SNOMED CT concept]
- ligneous conjunctivitis [MeSH concept]
- plasminogen deficiency type I [DO Concept]
DO Cross reference
- plasminogen deficiency type I [DO Concept]
Genes related to phenotype
- Plasminogen [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Abnormality of the ear [HPO term]
- Abnormality of the larynx [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebellar hypoplasia [HPO term]
- Conjunctivitis [HPO term]
- Dandy-Walker malformation [HPO term]
- Duodenal ulcer [HPO term]
- Gingival overgrowth [HPO term]
- Gingivitis [HPO term]
- Hydrocephalus [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Nephritis [HPO term]
- Nephrolithiasis [HPO term]
- Periodontitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
ORDO concept(s)
- Hypoplasminogenemia [ORDO Disease]
- Ligneous conjunctivitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysplasminogenemia (disorder) [SNOMED CT concept]
- dysplasminogenemia [SNOMED Notion]
- plasminogen deficiency, type I [MeSH Supplementary Concept]
- plasminogen deficiency, type I [MeSH concept]
Validated automatic mappings to BTNT
- Ligneous conjunctivitis [ORDO Disease]
- ligneous conjunctivitis [Disease (Nov.)]
- plasminogen deficiency, type I [MeSH Supplementary Concept]
- plasminogen deficiency, type I [MeSH concept]
Validated automatic mappings to NTBT
- Dysplasminogenemia (disorder) [SNOMED CT concept]
- Hypoplasminogenemia [ORDO Disease]
- dysplasminogenemia [SNOMED Notion]

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