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1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
LOC syndrome
Ligneous conjunctivitis

LAMA3 PLG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMA3
(0.52)
PLG



Citations in the biomedical literature:


LOC syndrome
LAMA3
Ligneous conjunctivitis
PLG



LOC syndrome
Ligneous conjunctivitis

Synonym(s):
- LOGIC syndrome
- Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
- Laryngo-onycho-cutaneous syndrome
- Shabbir syndrome

Synonym(s):
- Conjunctivitis lignosa

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare respiratory disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

LOC syndrome

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal fingernails
- Abnormal pigmentation of the oral mucosa / gingivae
- Abnormal toenails
- Absent / small fingernails / anonychia of hands
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Corneal clouding / opacity / vascularisation
- Death in infancy
- Enamel anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction



Ligneous conjunctivitis

(no data available)