ORPHA:306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Synonyms: ILNEB syndrome · JEB with interstitial lung disease and nephrotic syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome | ILNEB syndrome · JEB with interstitial lung disease and nephrotic syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome |
| fr | Syndrome de pneumopathie interstitielle-syndrome néphrotique-épidermolyse bulleuse | EBJ avec pneumopathie interstitielle et syndrome néphrotique · Epidermolyse bulleuse jonctionnelle avec pneumopathie interstitielle et syndrome néphrotique |
| de | Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom | ILNEB-Syndrom · JEB mit interstitieller Lungenkrankheit und nephrotischem Syndrom · JEB mit respiratorischer und renaler Beteiligung · Junktionale Epidermolysis bullosa mit interstitieller Lungenkrankheit und nephrotischem Syndrom |
| es | Síndrome de enfermedad pulmonar intersticial-síndrome nefrótico-epidermolisis ampollosa | Epidermólisis ampollosa juntural con enfermedad pulmonar intersticial y síndrome nefrótico · JEB con enfermedad pulmonar intersticial y síndrome nefrótico · Síndrome ILNEB · Síndrome de enfermedad pulmonar intersticial-síndrome nefrótico-epidermolisis bullosa |
| it | Sindrome nefrosica, pneumopatia interstiziale, epidermolisi bollosa | Sindrome ILNEB · Epidermolisi bollosa giunzionale con pneumopatia interstiziale e sindrome nefrosica · JEB con pneumopatia interstiziale e sindrome nefrosica |
| nl | Interstitiële longziekte - nefrotisch syndroom - epidermolysis bullosa-syndroom | ILNEB-syndroom · JEB met interstitiële longziekte en nefrotisch syndroom · Junctionele epidermolysis bullosa met interstitiële longziekte en nefrotisch syndroom |
| pt | Síndrome nefrótico-doença pulmonar intersticial-epidermólise bolhosa | Síndrome ILNEB |
| pl | Zespół pęcherzowego oddzielania się naskórka, śródmiąższowej choroby płuc i zespołu nerczycowego | = en |
| cs | Vrozený nefrotický syndrom s intersticiální plicní fibrózou a epidermolysis bullosa | Vrozený ILNEB syndrom · Vrozený NEP syndrom · Syndrom zahrnující vrozenou intersticiální plicní fibrózu, nefrotický syndrom a epidermolysis bullosa · Syndrom zahrnující vrozený nefrotický syndrom, epidermolysis bullosa a plicní fibrózu |
| uk | Синдром інтерстиціального захворювання легень-нефротичного синдрому-бульозного епідермолізу | Синдром ILNEB · JEB з інтерстиціальним захворюванням легень та нефротичним синдромом · Бульозний епідермоліз з інтерстиціальним захворюванням легень та нефротичним синдромом |
| zh | 先天性间质性肺病肾病综合征并发大疱性表皮松解症 | 交界性大疱性表皮松解症征累及呼吸道和肾脏 |
| tr | Solunum ve böbrek tutulumu ile seyreden kavşak epidermolizis bülloza | Doğumsal nefrotik sendrom-epidermolizis bülloza-pulmoner hastalık sendromu · Doğumsal interstisyel akciğer hastalığı-nefrotik sendrom-epidermolizis bülloza sendromu · Doğumsal nefrotik sendrom-interstisyel akciğer hastalığı-epidermolizis bülloza sendromu · JEB-RR · Doğumsal NEP sendromu · Doğumsal ILNEB sendromu · Solunum ve böbrek tutulumu ile seyreden JEB |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614748 | E | validated | |
| ICD-10 | J84.8 | NTBT | attributed | validated |
| MONDO | 0013881 | E | validated | |
| UMLS | C4518785 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:264670Primary interstitial lung disease specific to childhood due to alveolar structure disorder
rare respiratory diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITGA3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6139 | ENSG00000005884 | 605025 | 17q21.33 | integrin subunit alpha 3 | 22512183[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22512483[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22512483[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306504
- This record as JSON: /data/d/306504.json