Wolcott-Rallison syndrome
Findings
No curated finding names Wolcott-Rallison syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Definition from the Mondo Disease Ontology (MONDO:0009192), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
42 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.
- Epiphyseal dysplasiaHPOHP:0002656
- 3 of 3 reported patients · Childhood onset
- Insulin-resistant diabetes mellitusHPOHP:0000831
- 5 of 5 reported patients · Infantile onset
- Abnormality of the liverHPOHP:0001392
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Metaphyseal dysplasiaHPOHP:0100255
- Frequent (30% to 79% of cases)
- Multiple epiphyseal dysplasiaHPOHP:0002654
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Occasional (5% to 29% of cases)
- Central hypothyroidismHPOHP:0011787
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- EIF2AK3HGNC:3255
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Wolcott-Rallison syndrome
- Also called
- early-onset diabetes mellitus with multiple epiphyseal dysplasiaWRS