Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Synonyms: EBS with nephropathy · Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome | EBS with nephropathy · Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome |
| fr | Syndrome d'épidermolyse bulleuse-syndrome néphrotique-surdité neurosensorielle | EBS avec néphropathie · Epidermolyse bulleuse simple avec néphropathie |
| de | Nephrotisches Syndrom-Epidermolysis bullosa-sensorineurale Schwerhörigkeit-Syndrom | EBS mit Nephropathie · Epidermolysis bullosa simplex mit Nephropathie · Nephrotisches Syndrom-Hörverlust-Epidermolysis bullosa-Syndrom |
| es | Síndrome nefrótico-sordera neurosensorial-epidermólisis ampollosa pretibial | EBS con nefropatía · Epidermólisis ampollosa simple con nefropatía · Síndrome de epidermólisis ampollosa-hipoacusia-síndrome nefrótico |
| it | Sindrome nefrosica, epidermolisi bollosa, sordità neurosensoriale | EBS con nefropatia · Epidermolisi bollosa semplice con nefropatia · Sindrome nefrosica, sordità, epidermolisi bollosa |
| nl | Nefrotisch syndroom - epidermolysis bullosa - sensorineurale doofheid-syndroom | EBS met nefropathie · Epidermolysis bullosa simplex met nefropathie · Nefrotisch syndroom - gehoorverlies - epidermolysis bullosa-syndroom |
| pt | Síndrome nefrótico-epidermólise bolhosa-surdez neurossensorial | Epidermólise bolhosa simples com nefropatia |
| pl | Zespół niedosłuchu czuciowo-nerwowego, pęcherzowego oddzielania się naskórka i zespołu nerczycowego | Zespół zespołu nefrotycznego, utraty słuchu, przedpiszczelowego pęcherzowego oddzielania się naskórka |
| cs | Syndrom zahrnující nefrotický syndrom, hluchotu a pretibiální epidermolysis bullosa | Syndrom zahrnující nefrotický syndrom, ztrátu sluchu a pretibiální epidermolysis bullosa |
| uk | Нефротичний синдром-бульозний епідермоліз-сенсоневральнаї глухота | EBS з нефропатією · Простий бульозний епідермоліз з нефропатією · Нефротичний синдром - втрата слуху - бульозний епідермоліз |
| zh | 肾病综合征-耳聋-胫前表皮大疱性松解症综合征 | 肾病综合征-听力损失-胫前表皮大疱性松解症综合征 |
| tr | Nefrotik sendrom-sağırlık-pretibial epidermolizis bülloza sendromu | Nefrotik sendrom-işitme kaybı-pretibial epidermolizis bülloza sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609057 | E | validated | |
| ICD-10 | N04.8 | NTBT | attributed | validated |
| ICD-11 | GB41 | NTBT | attributed | validated |
| MONDO | 0012190 | E | validated | |
| UMLS | C4751113 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:595351Epidermolysis bullosa simplex with extracutaneous involvement
rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD151 | Disease-causing germline mutation(s) in | Assessed | HGNC:1630 | ENSG00000177697 | 602243 | 11p15.5 | CD151 molecule (Raph blood group) | 15265795[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 15265795[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15265795[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300333
- This record as JSON: /data/d/300333.json