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Hypoplastic amelogenesis imperfecta

4 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Hypoplastic amelogenesis imperfecta

LOC syndrome

ENAM	(UniProt - OMIM)		LAMA3	(UniProt - OMIM)
LAMB3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMB3	(0.65)	LAMA3

Citations in the biomedical literature:

Hypoplastic amelogenesis imperfecta		LOC syndrome
	Synonym(s): - Amelogenesis imperfecta 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 odontologic 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): - Diseases of the digestive system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: 4 OMIM references - 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
Hypoplastic amelogenesis imperfecta
(no data available)