Hypotonia-cystinuria syndrome

Log in to bookmark this disease

Bookmark This Disease

Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ATYPICAL HYPOTONIA CYSTINURIA SYNDROME
C4755274
CAMKMT Unknown — Disgenet
PREPL Unknown — Disgenet —
SLC3A1 Unknown — Disgenet
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME
238523
CAMKMT Unknown
18234729
Orphanet
PREPL Unknown
18234729
Orphanet —
SLC3A1 Unknown
18234729
Orphanet
All3 Causal0 Unknown3
Related Diseases Diseases that share the most curated genes with Hypotonia-cystinuria syndrome.
5 View disease cluster →
Cystine urolithiasis 2 shared genesPREPL, SLC3A1 Related via 2 shared genes including PREPL, SLC3A1. Cystinuria 2 shared genesPREPL, SLC3A1 Related via 2 shared genes including PREPL, SLC3A1. Developmental coordination disorder 1 shared geneCAMKMT Related via 1 shared gene including CAMKMT. Motor skills disorder 1 shared geneCAMKMT Related via 1 shared gene including CAMKMT. Mitochondrial myopathy 1 shared geneCAMKMT Related via 1 shared gene including CAMKMT.