recessive dystrophic epidermolysis bullosa
Findings
No curated finding names recessive dystrophic epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Definition from the Mondo Disease Ontology (MONDO:0009179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
55 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
- 2 of 2 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- 2 of 2 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Oral mucosal blistersHPOHP:0200097
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Sub-lamina densa cleavageHPOHP:0033803
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
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
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · G2P · Autosomal dominant · 2024
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
8 names
Resolves to: recessive dystrophic epidermolysis bullosa
- Also called
- autosomal recessive dystrophic epidermolysis bullosa generalisata gravisautosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens typeEBD inversaepidermolysis bullosa dystrophica, ARepidermolysis bullosa dystrophica, autosomal recessive, modifier ofRDEB generalisata gravisRDEB-sev genRDEB, Hallopeau-Siemens type