MEDNIK syndrome
MeSH: C563739ORPHA: 171851
Overview
syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with MEDNIK syndrome, sourced from HPO and Orphanet clinical annotations.
HyperkeratosisIntellectual disabilityAbnormal intestine morphologyIchthyosisPeripheral neuropathyIntrahepatic cholestasisDecreased circulating ceruloplasmin concentrationDecreased circulating copper concentration
Classification & Codes
MeSH Code
C563739Orphanet Code
ORPHA:171851MEDNIK syndrome
| MeSH | C563739 |
| Orphanet | ORPHA:171851 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO