Krause-Kivlin syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism. (Orphanet Rare Disease Ontology, Orphanet_709)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C537617
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Genes

1 genes/proteins associated with the disease Krause-Kivlin syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
B3GALTL beta 1,3-galactosyltransferase-like 2.88009