Phenotypes associated with the disease epidermolysis bullosa simplex 7, with nephropathy and deafness (OMIM:609057):
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 3/3. (PMID:15265795)
- Pretibial blistering (HP:0012221): A type of blistering that affects the skin of the tibial region. Evidence: PCS. Frequency: 3/3. (PMID:15265795)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: PCS. (PMID:15265795)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 3/3. (PMID:15265795)
- Glomerular basement membrane disruption (HP:0033485): A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. Evidence: PCS. Frequency: 1/1. (PMID:15265795)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:15265795)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. (PMID:15265795)
- Lacrimal duct stenosis (HP:0007678): Narrowing of a tear duct (lacrimal duct). Evidence: PCS. (PMID:15265795)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:15265795)