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hypotonia-cystinuria syndrome

Disease Summary
Associated Targets (4)
Tchem

2

Tbio

2


Explore Associated Targets
Mondo Description Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Uniprot Description Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.
Disease Ontology Description A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0011669:  hypotonia-cystinuria syndrome
EFO:0007550: 
MESH:C564710: 
Orphanet:163690: 
SCTID:721173005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)