ORPHA:69063
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Synonyms: Alloimmune neonatal renal disease · FMAIG · Fetomaternal alloimmunization with antenatal glomerulopathies · Neonatal glomerulopathy due to neprilysin alloimmunization · Neonatal membranous glomerulopathy with maternal NEP deficiency · Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | Alloimmune neonatal renal disease · FMAIG · Fetomaternal alloimmunization with antenatal glomerulopathies · Neonatal glomerulopathy due to neprilysin alloimmunization · Neonatal membranous glomerulopathy with maternal NEP deficiency · Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency |
| fr | Glomérulopathie extra-membraneuse congénitale par allo-immunisation foetomaternelle anti-endopeptidase neutre | FMAIG · GEM allo-immune · Glomérulonéphrite extra-membraneuse néonatale par allo-immunisation foetomaternelle |
| de | Kongenitale membranöse Nephropathie durch Alloimmunisierung gegen fetomaternale anti-neutrale Endopeptidase | FMAIG · Fetomaternale Alloimmunisierung mit antenatalen Glomerulopathien · Neonatale Glomerulopathie durch Neprilysin-Alloimmunisierung · Neonatale alloimmune Nierenkrankheit · Neonatale membranöse Glomerulonephritis mit maternalem NEP-Mangel · Neonatale membranöse Glomerulopathie mit maternalem neutraler Endopeptidase-Mangel |
| es | Nefropatía membranosa congénita por aloinmunización fetomaterna por anticuerpos anti-endopeptidasa neutra | Aloinmunización fetomaterna con glomerulopatías prenatales · Enfermedad renal neonatal aloinmune · FMAIG · Glomerulopatía membranosa neonatal con deficiencia materna de EPN · Glomerulopatía membranosa neonatal con deficiencia materna de endopeptidasa neutra · Glomerulopatía neonatal por aloinmunización por neprilisina |
| it | Nefropatia membranosa congenita da alloimmunizzazione materna anti-endopeptidasi neutra | Alloimmunizzazione fetomaterna con glomerulopatie prenatali · FMAIG · Glomerulopatia membranosa neonatale con deficit materno di NEP · Glomerulopatia membranosa neonatale con deficit materno di endopeptidasi neutra · Malattia renale neonatale alloimmune |
| nl | Congenitale membraneuze nefropathie door foetomaternale anti-neutrale endopeptidase-allo-immunisatie | Allo-immune neonatale nierziekte · FMAIG · Foetomaternale allo-immunisatie met prenatale glomerulopathieën · Neonatale glomerulopathie door neprilysine-allo-immunisatie · Neonatale membraneuze glomerulopathie met maternale NEP-deficiëntie · Neonatale membraneuze glomerulopathie met maternale neutrale endopeptidasedeficiëntie |
| pt | Glomerulonefrite membranosa congénita por aloimunização anti-endopeptidase neutra materna | |
| pl | Wrodzona nefropatia błoniasta związana z matczyną alloimmunizacją przeciwko neutralnej endopeptydazie | Alloimmunizacja matczyno-płodowa z glomerulopatią prenatalną · Alloimmunizacyjna choroba nerek noworodków · FMAIG · Noworodkowa błonaista glomerulopatia z deficytem matczynego NEP · Noworodkowa glomerulopatia błoniasta z deficytem matczynej endopeptydazy |
| cs | Vrozená membranózní nefropatie způsobená aloimunizací maternální anti-neutrální endopeptidázou | FMAIG · Fetomaternální aloimunizace s antenatálními glomerulopatiemi · Neonatální membranózní glomerulopatie s maternálním deficitem NEP · Neonatální membranózní glomerulopatie s deficitem maternální neutrální endopeptidázy · Aloimunitní neonatální renální onemocnění |
| uk | Вроджена мембранозна нефропатія внаслідок фето-материнської алоімунізації антинейтральною ендопептидазою | Алоімунна неонатальна хвороба нирок · Алоімунізація плода та матері при антенатальних гломерулопатіях · FMAIG · Неонатальна гломерулопатія внаслідок алоімунізації неприлізином · Неонатальна мембранозна гломерулопатія з дефіцитом NEP у матері · Неонатальна мембранозна гломерулопатія з дефіцитом нейтральної ендопептидази у матері |
| zh | 母体抗中性肽链内切酶同种免疫所致先天性膜性肾病 | 同种免疫性新生儿肾脏疾病 |
| tr | Fetomaternal anti-nötr endopeptidaz alloimmünizasyonuna bağlı doğumsal membranöz nefropati | Neprilisin alloimmünizasyonuna bağlı yenidoğan glomerülopati · Antenatal glomerülopatilerde fetomaternal alloimmünizasyon · Maternal NEP eksikliği olan yenidoğan membranöz glomerülopati · Maternal nötr endopeptidaz eksikliği olan yenidoğan membranöz glomerülopati · FMAIG · Alloimmün yenidoğan böbrek hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P96.0 | NTBT | attributed | validated |
| ICD-11 | GB41 | NTBT | index | validated |
| MONDO | 0019068 | E | validated | |
| UMLS | C4511239 | 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 (1):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:97668OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MME | Disease-causing germline mutation(s) in | Assessed | HGNC:7154 | ENSG00000196549 | 120520 | 3q25.2 | membrane metalloendopeptidase | 15464186[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 19154696[PMID]_15464186[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
5 annotations · validated 2019-07-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030949 | Glomerular deposits | |
| HP:0000099 | Glomerulonephritis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0031437 | Pregnancy exposure | |
| Frequent (79-30%) | ||
| HP:0000083 | Renal insufficiency | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 16609292[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69063
- This record as JSON: /data/d/69063.json