MEDNIK syndrome
Findings
No curated finding names MEDNIK syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
Definition from the Mondo Disease Ontology (MONDO:0012251), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death · Death in childhood
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DiarrheaHPOHP:0002014
- 6 of 6 reported patients · Congenital onset
- High foreheadHPOHP:0000348
- 4 of 4 reported patients
- IchthyosisHPOHP:0008064
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Increased circulating very long-chain fatty acid concentrationHPOHP:0033643
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
Show the remaining 11
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- Frequent (30% to 79% of cases)
- Decreased circulating copper concentrationHPOHP:0011967
- Frequent (30% to 79% of cases)
- Intrahepatic cholestasisHPOHP:0001406
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- 3 of 6 reported patients
- ErythemaHPOHP:0010783
- 3 of 6 reported patients
- CataractHPOHP:0000518
- 2 of 6 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AP1S1HGNC:559
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Illumina · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- AP1B1HGNC:554
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: MEDNIK syndrome
- Also called
- erythrokeratodermia variabilis 3erythrokeratodermia variabilis, Kamouraska typeintellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndromeintellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia