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1 OMIM reference -
1 associated gene
44 connected diseases
11 signs/symptoms
Disease Type of connection
Ligneous conjunctivitis
Congenital alpha2 antiplasmin deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Baraitser-Winter syndrome
Congenital factor X deficiency
Congenital high-molecular-weight kininogen deficiency
Developmental malformations - deafness - dystonia
Fibronectin glomerulopathy
Immunodeficiency due to a late component of complements deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant spastic paraplegia type 13
Distal hereditary motor neuropathy type 2
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Pelizaeus-Merzbacher-like due to HSPD1 mutation
17q11 microdeletion syndrome
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Quebec platelet disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hereditary sensory and autonomic neuropathy type 5
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Familial encephalopathy with neuroserpin inclusion bodies
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hereditary angioedema type 1
Hereditary angioedema type 2
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Immunodeficiency due to an early component of complement deficiency
Junctional epidermolysis bullosa, Herlitz type
LOC syndrome
Metaphyseal anadysplasia
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
- Plasminogen deficiency type 1

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PLG P00747173350
Very frequent
- Anomalies of eyes and vision

- Anomalies of tongue, gingiva and oral mucosa

- Abnormal / polycystic ovaries
- Anomalies of skin, subcutaneous tissue and mucosae
- Dandy-Walker anomaly
- Hydrocephaly
- Intestinal / colonic anomaly
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Structural anomalies of the respiratory system and diaphragm
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Uterine / uterus / Fallopian tubes anomalies