Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
Number of Symptoms 9
OrphanetNr: 300333
OMIM Id: 609057
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Basement membrane disease
 -Rare genetic disease
 -Rare renal disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000123) Nephritis 15265795 IBIS 18 / 7739
2
 (HPO:0003774) Stage 5 chronic kidney disease 15265795 IBIS 78 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0007678) Lacrimal duct stenosis 15265795 IBIS 8 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 15265795 IBIS 524 / 7739
6
 (HPO:0012221) Pretibial blistering 15265795 IBIS 2 / 7739
7
 (HPO:0008404) Nail dystrophy 15265795 IBIS 89 / 7739
8
 (HPO:0011906) Reduced beta/alpha synthesis ratio 15265795 IBIS 3 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kagan et al. (1988) described 2 sibs with an apparently unique association of hereditary nephritis, epidermolysis bullosa, and beta-thalassemia minor. The sibs were a 19-year-old boy and his 17-year-old sister (of an 'oriental Jewish' family). They had been ...
Molecular genetics OMIM Karamatic Crew et al. (2004) demonstrated that the sibs described by Kagan et al. (1988) and a third patient were negative for the MER2 blood group antigen (see 179620), which is expressed by the CD151 gene (602243). All ...