recessive dystrophic epidermolysis bullosa-generalized other
Findings
No curated finding names recessive dystrophic epidermolysis bullosa-generalized other yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Definition from the Mondo Disease Ontology (MONDO:0019522), read 2026-09-29. CC BY 4.0.
Features
46 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal circulating selenium concentrationHPOHP:0031903
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Atypical scarring of skinHPOHP:0000987
- Very frequent (80% to 99% of cases)
- Decreased body weightHPOHP:0004325
- Very frequent (80% to 99% of cases)
- Fragile skinHPOHP:0001030
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Decreased circulating iron concentrationHPOHP:0040303
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- Decreased serum zincHPOHP:0031831
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Esophageal stenosisHPOHP:0010450
- Frequent (30% to 79% of cases)
- Esophageal strictureHPOHP:0002043
- Frequent (30% to 79% 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.
- COL7A1HGNC:2214
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
12 names
Resolves to: recessive dystrophic epidermolysis bullosa-generalized other
- Also called
- autosomal recessive dystrophic epidermolysis bullosa generalisata mitisautosomal recessive dystrophic epidermolysis bullosa, generalised otherautosomal recessive dystrophic epidermolysis bullosa, generalized othergeneralised mitis RDEBgeneralized mitis RDEBRDEB generalisata mitisRDEB-generalized otherRDEB-ORDEB, generalised intermediateRDEB, generalized intermediateRDEB, non-Hallopeau-Siemens typerecessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type