MCID: PLS030
MIFTS: 28

Plasminogen Deficiency, Type I malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Plasminogen Deficiency, Type I

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OMIM:45 Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic muscosal... (217090) more...

MalaCards based summary: Plasminogen Deficiency, Type I, also known as hypoplasminogenemia, is related to congenital plasminogen deficiency and conjunctivitis, and has symptoms including abnormality of the eye, abnormality of the oral cavity and polycystic ovaries. An important gene associated with Plasminogen Deficiency, Type I is PLG (plasminogen). Affiliated tissues include eye, trachea and skin.

NIH Rare Diseases:41 Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. the lesions may be triggered by local injury and/or infection and often recur after removal of the lesion; they are caused by the deposition of fibrin (a protein involved in blood clotting) and by inflammation. the most common clinical finding is ligenous ('wood-like') conjunctivitis, a condition marked by redness and subsequent formation of pseudomembranes of part of the eye that progresses to white, yellow-white or red thick masses with a wood-like consistency that replace the normal mucosa. hydrocephalus may be present at birth in a small number of individuals.   last updated: 12/9/2008

Aliases & Classifications for Plasminogen Deficiency, Type I

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Sources:
45OMIM, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 61UMLS via Orphanet
See all sources

Plasminogen Deficiency, Type I, Aliases & Descriptions:

Name: Plasminogen Deficiency, Type I 45
Hypoplasminogenemia 41 47 60
Plasminogen Deficiency Type 1 41 47
 
Dysplasminogenemia 45 60
Type 1 Plasminogen Deficiency 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
hypoplasminogenemia:
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages


External Ids:

OMIM45 217090
Orphanet47 722
UMLS via Orphanet61 C0398621

Related Diseases for Plasminogen Deficiency, Type I

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Diseases related to Plasminogen Deficiency, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1congenital plasminogen deficiency10.4
2conjunctivitis10.2
3coats disease10.2
4factor v deficiency10.1
5aplastic anemia10.0
6paroxysmal nocturnal hemoglobinuria10.0
7choroiditis10.0
8protein c deficiency10.0
9hemoglobinuria10.0
10pulmonary embolism10.0
11retinitis10.0
12varicose veins10.0

Graphical network of diseases related to Plasminogen Deficiency, Type I:



Diseases related to plasminogen deficiency, type i

Symptoms for Plasminogen Deficiency, Type I

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Symptoms by clinical synopsis from OMIM:

217090

Clinical features from OMIM:

217090

Symptoms:

 47 (show all 11)
  • anomalies of eyes and vision
  • anomalies of tongue, gingiva and oral mucosa
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • anomalies of skin, subcutaneous tissue and mucosae
  • intestinal/colonic anomaly
  • structural anomalies of the respiratory system and diaphragm
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • uterine/uterus/fallopian tubes anomalies
  • abnormal/polycystic ovaries
  • hydrocephaly
  • dandy-walker anomaly

HPO human phenotypes related to Plasminogen Deficiency, Type I:

(show all 29)
id Description Frequency HPO Source Accession
1 abnormality of the eye hallmark (90%) HP:0000478
2 abnormality of the oral cavity typical (50%) HP:0000163
3 polycystic ovaries occasional (7.5%) HP:0000147
4 hydrocephalus occasional (7.5%) HP:0000238
5 abnormality of the middle ear occasional (7.5%) HP:0000370
6 nephrolithiasis occasional (7.5%) HP:0000787
7 dandy-walker malformation occasional (7.5%) HP:0001305
8 abnormality of the respiratory system occasional (7.5%) HP:0002086
9 abnormality of the intestine occasional (7.5%) HP:0002242
10 nephritis rare (5%) HP:0000123
11 autosomal recessive inheritance HP:0000007
12 gingival overgrowth HP:0000212
13 gingivitis HP:0000230
14 hydrocephalus HP:0000238
15 macrocephaly HP:0000256
16 conjunctivitis HP:0000509
17 abnormality of the ear HP:0000598
18 blindness HP:0000618
19 periodontitis HP:0000704
20 nephrolithiasis HP:0000787
21 abnormality of the skin HP:0000951
22 dandy-walker malformation HP:0001305
23 cerebellar hypoplasia HP:0001321
24 abnormality of the larynx HP:0001600
25 abnormality of the cardiovascular system HP:0001626
26 abnormality of metabolism/homeostasis HP:0001939
27 duodenal ulcer HP:0002588
28 recurrent upper respiratory tract infections HP:0002788
29 infantile onset HP:0003593

Drugs & Therapeutics for Plasminogen Deficiency, Type I

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Drug clinical trials:

Search ClinicalTrials for Plasminogen Deficiency, Type I

Search NIH Clinical Center for Plasminogen Deficiency, Type I

Genetic Tests for Plasminogen Deficiency, Type I

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Anatomical Context for Plasminogen Deficiency, Type I

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MalaCards organs/tissues related to Plasminogen Deficiency, Type I:

31
Eye, Trachea, Skin, Ovary, Bone, Colon, Kidney, Uterus, Tongue

Animal Models for Plasminogen Deficiency, Type I or affiliated genes

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Publications for Plasminogen Deficiency, Type I

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Articles related to Plasminogen Deficiency, Type I:

idTitleAuthorsYear
1
Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I. (8258756)
1993

Variations for Plasminogen Deficiency, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Plasminogen Deficiency, Type I:

62
id Symbol AA change Variation ID SNP ID
1PLGp.Val374PheVAR_006627rs121918028
2PLGp.Ser591ProVAR_006628
3PLGp.Ala620ThrVAR_006629rs121918027
4PLGp.Gly751ArgVAR_006630
5PLGp.Lys38GluVAR_018657rs73015965
6PLGp.Leu147ProVAR_018658
7PLGp.Arg235HisVAR_018659
8PLGp.Arg532HisVAR_018660

Expression for genes affiliated with Plasminogen Deficiency, Type I

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Search GEO for disease gene expression data for Plasminogen Deficiency, Type I.

Pathways for genes affiliated with Plasminogen Deficiency, Type I

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Compounds for genes affiliated with Plasminogen Deficiency, Type I

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GO Terms for genes affiliated with Plasminogen Deficiency, Type I

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Products for genes affiliated with Plasminogen Deficiency, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Plasminogen Deficiency, Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet