Hypoplasminogenemia

General Information (adopted from Orphanet):

Synonyms, Signs: DYSPLASMINOGENEMIA, INCLUDED
Plasminogen deficiency type 1
Number of Symptoms 55
OrphanetNr: 722
OMIM Id: 217090
ICD-10:
UMLs: C0398621
MeSH:
MedDRA:
Snomed: 95840007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic systemic or rheumatologic disease
 -Rare genetic disease
Rare systemic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
3
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
4
 (HPO:0000123) Nephritis rare [HPO:skoehler] 18 / 7739
5
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
6
 (HPO:0000704) Periodontitis 24 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0000230) Gingivitis 31 / 7739
9
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
10
 (HPO:0000256) Macrocephaly 298 / 7739
11
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
12
 (HPO:0000505) Visual impairment 297 / 7739
13
 (HPO:0000509) Conjunctivitis 47 / 7739
14
 (HPO:0000618) Blindness 124 / 7739
15
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
16
 (HPO:0000598) Abnormality of the ear 98 / 7739
17
 (HPO:0004452) Abnormality of the middle ear ossicles Occasional [Orphanet] 26 / 7739
18
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
19
 (HPO:0002588) Duodenal ulcer 15 / 7739
20
 (HPO:0000951) Abnormality of the skin Occasional [Orphanet] 147 / 7739
21
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
22
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
23
 (HPO:0012252) Abnormal respiratory system morphology Occasional [Orphanet] 14 / 7739
24
 (HPO:0006510) Chronic obstructive pulmonary disease 19 / 7739
25
 (HPO:0006536) Obstructive lung disease 7 / 7739
26
 (HPO:0001600) Abnormality of the larynx 15 / 7739
27
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
28
 (OMIM) Decreased plasminogen activity 2 / 7739
29
 (OMIM) Pseudomembranous inflammation of the vaginal mucosa or cervix 2 / 7739
30
 (OMIM) Juvenile colloid milium 2 / 7739
31
 (OMIM) Ligneous gingivitis 2 / 7739
32
 (HPO:0003593) Infantile onset 249 / 7739
33
 (OMIM) Pseudomembranous inflammation of the bronchi 2 / 7739
34
 (OMIM) Pseudomembranous inflammation of the sinuses 2 / 7739
35
 (OMIM) Pseudomembranous inflammation of the lung 2 / 7739
36
 (OMIM) Chronic tearing 2 / 7739
37
 (OMIM) Formation of mucosal pseudomembranes that progress to plaques 2 / 7739
38
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
39
 (OMIM) Pseudomembranous inflammation of the middle ear 2 / 7739
40
 (OMIM) Pseudomembranous inflammation of the gastrointestinal mucosa 2 / 7739
41
 (MedDRA:10044044) Tooth loss 6 / 7739
42
 (MedDRA:10071570) Ligneous conjunctivitis 2 / 7739
43
 (OMIM) Pseudomembranous inflammation of the larynx 2 / 7739
44
 (OMIM) Pseudomembranous inflammation of the nasopharynx 2 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
46
 (OMIM) Acute nephritis (rare) 2 / 7739
47
 (OMIM) Small papules on sun-exposed areas 2 / 7739
48
 (OMIM) Pseudomembranous, calcified plaques in the renal collecting system (rare) 2 / 7739
49
 (OMIM) Decreased plasminogen antigen 2 / 7739
50
 (OMIM) Occlusive hydrocephalus, congenital 2 / 7739
51
 (OMIM) No increased risk of thrombotic vascular events 2 / 7739
52
 (OMIM) Gingivitis, severe 2 / 7739
53
 (OMIM) Subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues 2 / 7739
54
 (OMIM) Redness of the conjunctivae 2 / 7739
55
 (OMIM) Pseudomembranous inflammation of the oral mucosa 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Bateman et al. (1986) reported a brother and sister with ligneous conjunctivitis. The authors found reports of 9 other sets of affected sibs, suggesting autosomal recessive inheritance, although no parental consanguinity was observed. In 1 of the patients ...
Molecular genetics OMIM In 2 unrelated Turkish girls with plasminogen deficiency, Schuster et al. (1997) identified 2 different homozygous mutations in the PLG gene (173350.0004; 173350.0005).

In 2 sibs with plasminogen deficiency originally reported by Bateman et al. (1986), ...