ORPHA:722
Hypoplasminogenemia
Synonyms: Plasminogen deficiency type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoplasminogenemia | Plasminogen deficiency type 1 |
| fr | Déficit congénital en plasminogène | Déficit en plasminogène type 1 |
| de | Hypoplasminogenämie | Plasminogen-Mangel Typ 1 |
| es | Hipoplasminogenemia | Deficiencia de plasminógeno tipo 1 |
| it | Ipoplasminogenemia | Deficit di plasminogeno, tipo 1 · Ipoplasminogenemia |
| nl | Hypoplasminogenemie | Plasminogeendeficiëntie type 1 |
| pt | Deficiência congénita de plasminogénio | |
| pl | Hipoplazminogenemia | Niedobór plazminogenu typu 1 |
| cs | Hypoplasminogenémie | Deficit plasminogenu, typ 1 |
| uk | Гіпоплазміногенемія | Дефіцит плазміногену 1 типу |
| zh | 低纤溶酶原血症 | 纤溶酶原缺乏症1型 |
| tr | Hipoplazminojenemi | Plazminojen eksikliği tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217090 | E | validated | |
| ICD-10 | L90.5 | NTBT | attributed | validated |
| ICD-11 | DA0D.3 | E | specific | validated |
| MONDO | 0009009 | E | validated | |
| UMLS | C1968804 | E | validated | |
| GARD | 4380 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98610Rare disorder with conjunctival involvement as a major feature
rare ophthalmic disorders - ORPHA:522542Rare genetic disorder with conjunctival involvement as a major feature
rare genetic diseases - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:97231Ligneous conjunctivitis moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9071 | ENSG00000122194 | 173350 | 6q26 | plasminogen | 16849641[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Europe | Value and class | Validated | 32001536[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0040228 | Decreased level of plasminogen | |
| Frequent (79-30%) | ||
| HP:0000212 | Gingival overgrowth | |
| HP:0000230 | Gingivitis | |
| Occasional (29-5%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0000137 | Abnormality of the ovary | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000951 | Abnormality of the skin | |
| HP:0030160 | Cervicitis | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002588 | Duodenal ulcer | |
| HP:0000238 | Hydrocephalus | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000704 | Periodontitis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/722
- This record as JSON: /data/d/722.json