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Hypoplasminogenemia

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Hypoplasminogenemia

LOC syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Hypoplasminogenemia		LOC syndrome
	Synonym(s): - Plasminogen deficiency type 1		Synonym(s): - LOGIC syndrome - Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome - Laryngo-onycho-cutaneous syndrome - Shabbir syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Anomalies of skin, subcutaneous tissue and mucosae

Hypoplasminogenemia		LOC syndrome
	Very frequent - Anomalies of eyes and vision Frequent - Anomalies of tongue, gingiva and oral mucosa Occasional - Abnormal / polycystic ovaries - 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		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 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