Ligneous conjunctivitis

General Information (adopted from Orphanet):

Synonyms, Signs: DYSPLASMINOGENEMIA, INCLUDED
Conjunctivitis lignosa
Number of Symptoms 37
OrphanetNr: 97231
OMIM Id: 217090
ICD-10: H10.4
UMLs: C1274789
MeSH:
MedDRA:
Snomed: 403435005

Prevalence, inheritance and age of onset:

Prevalence: 1.1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare conjunctival disease
 -Rare eye disease
 -Rare genetic disease
Rare inflammatory eye disease
 -Rare eye disease

Symptom Information: Sort by abundance 

1
(HPO:0000787) Nephrolithiasis 78 / 7739
2
(HPO:0000256) Macrocephaly 298 / 7739
3
(HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
4
(HPO:0001305) Dandy-Walker malformation 79 / 7739
5
(HPO:0000704) Periodontitis 24 / 7739
6
(HPO:0000212) Gingival overgrowth 43 / 7739
7
(HPO:0000505) Visual impairment 297 / 7739
8
(HPO:0000618) Blindness 124 / 7739
9
(HPO:0002588) Duodenal ulcer 15 / 7739
10
(HPO:0006536) Obstructive lung disease 7 / 7739
11
(HPO:0006510) Chronic obstructive pulmonary disease 19 / 7739
12
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
13
(OMIM) Pseudomembranous inflammation of the nasopharynx 2 / 7739
14
(OMIM) Pseudomembranous, calcified plaques in the renal collecting system (rare) 2 / 7739
15
(OMIM) Pseudomembranous inflammation of the sinuses 2 / 7739
16
(OMIM) Pseudomembranous inflammation of the oral mucosa 2 / 7739
17
(OMIM) Pseudomembranous inflammation of the bronchi 2 / 7739
18
(OMIM) Occlusive hydrocephalus, congenital 2 / 7739
19
(OMIM) Juvenile colloid milium 2 / 7739
20
(OMIM) Redness of the conjunctivae 2 / 7739
21
(OMIM) Ligneous gingivitis 2 / 7739
22
(OMIM) Pseudomembranous inflammation of the larynx 2 / 7739
23
(OMIM) Pseudomembranous inflammation of the gastrointestinal mucosa 2 / 7739
24
(OMIM) Chronic tearing 2 / 7739
25
(MedDRA:10044044) Tooth loss 6 / 7739
26
(OMIM) Small papules on sun-exposed areas 2 / 7739
27
(OMIM) Pseudomembranous inflammation of the lung 2 / 7739
28
(OMIM) Decreased plasminogen antigen 2 / 7739
29
(OMIM) Decreased plasminogen activity 2 / 7739
30
(OMIM) Acute nephritis (rare) 2 / 7739
31
(OMIM) Pseudomembranous inflammation of the middle ear 2 / 7739
32
(OMIM) Pseudomembranous inflammation of the vaginal mucosa or cervix 2 / 7739
33
(OMIM) Subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues 2 / 7739
34
(MedDRA:10071570) Ligneous conjunctivitis 2 / 7739
35
(OMIM) No increased risk of thrombotic vascular events 2 / 7739
36
(OMIM) Formation of mucosal pseudomembranes that progress to plaques 2 / 7739
37
(OMIM) Gingivitis, severe 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), ...