Details of Disease

General Information of Disease (ID: DISS5W08)

Disease Name	Hypoplasminogenemia
Synonyms	ligneous conjunctivitis; plasminogen deficiency, type 1; plasminogen deficiency type 1; type 1 plasminogen deficiency; plasminogen deficiency, type I; hypoplasminogenemia
Disease Class	DA0D: Gingival/edentulous alveolar ridge disorder
Definition	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.
Disease Hierarchy	DISEXNCF: Coagulation protein disease DIS1DL2M: Inherited blood coagulation disorder DISS5W08: Hypoplasminogenemia
ICD Code	ICD-11 ICD-11: DA0D.3 Expand ICD-11 'DA0D.3
Disease Identifiers	MONDO ID MONDO_0009009 MESH ID C580017 UMLS CUI C0398621 MedGen ID 97984 Orphanet ID 722 SNOMED CT ID 95840007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Plasminogen	DM0EFQS	Phase 2/3	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLG	TTP86E2	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLG	OTWWIPPY	Definitive	Autosomal recessive	[2]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.