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1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Erythrocyte galactose epimerase deficiency

1 associated gene
No signs/symptoms info

LOC syndrome

Erythrocyte galactose epimerase deficiency

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMA3	(0.63)	GALE

Citations in the biomedical literature:

LOC syndrome		Erythrocyte galactose epimerase deficiency
	Synonym(s): - LOGIC syndrome - Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome - Laryngo-onycho-cutaneous syndrome - Shabbir syndrome		Synonym(s): - Erythrocyte GALE deficiency - Erythrocyte GALE-D - Erythrocyte UDP-galactose-4-epimerase deficiency - Erythrocyte epimerase deficiency galactosemia - Erythrocyte uridine diphosphate galactose-4-epimerase deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare respiratory disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 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
Erythrocyte galactose epimerase deficiency
(no data available)