epidermolysis bullosa simplex 7, with nephropathy and deafness
MONDO:0012190Mondo
Findings
No curated finding names epidermolysis bullosa simplex 7, with nephropathy and deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Glomerular basement membrane disruptionHPOHP:0033485
- 1 of 1 reported patient
- Pretibial blisteringHPOHP:0012221
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 3 reported patients
- Thickened glomerular basement membraneHPOHP:0004722
- 1 of 1 reported patient
- Lacrimal duct stenosisHPOHP:0007678
- Nail dystrophyHPOHP:0008404
- NephritisHPOHP:0000123
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.
- CD151HGNC:1630
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: epidermolysis bullosa simplex 7, with nephropathy and deafness
- Also called
- nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndromenephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome