severe dermatitis-multiple allergies-metabolic wasting syndrome
MONDO:0014218Mondo
Findings
No curated finding names severe dermatitis-multiple allergies-metabolic wasting syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- AcantholysisHPOHP:0100792
- 3 of 3 reported patients
- ErythrodermaHPOHP:0001019
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Food allergyHPOHP:0500093
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypergranulosisHPOHP:0025114
- 3 of 3 reported patients
- HypernatremiaHPOHP:0003228
- 3 of 3 reported patients
- HypoalbuminemiaHPOHP:0003073
- 3 of 3 reported patients
- IchthyosisHPOHP:0008064
- 3 of 3 reported patients · Congenital onset
- Increased circulating IgE concentrationHPOHP:0003212
- 3 of 3 reported patients
- MalabsorptionHPOHP:0002024
- 3 of 3 reported patients
- OrthokeratosisHPOHP:0040162
- 3 of 3 reported patients
Show the remaining 11
- Palmoplantar keratodermaHPOHP:0000982
- 3 of 3 reported patients
- Psoriasiform dermatitisHPOHP:0003765
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Recurrent skin infectionsHPOHP:0001581
- 2 of 3 reported patients
- Eosinophilic infiltration of the esophagusHPOHP:0410151
- 1 of 3 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.
- DSG1HGNC:3048
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- DSPHGNC:3052
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: severe dermatitis-multiple allergies-metabolic wasting syndrome
- Also called
- congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndromeerythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgESAM syndrome