ORPHA:839
Congenital nephrotic syndrome, Finnish type
Synonyms: Finnish congenital nephrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting <i>in utero</i> or during the first 3 months of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital nephrotic syndrome, Finnish type | Finnish congenital nephrosis |
| fr | Syndrome néphrotique congénital type finlandais | Néphrose congénitale finlandaise |
| de | Nephrotisches Syndrom, kongenitales, finnischer Typ | Nephrose, kongenitale, finnischer Typ |
| es | Síndrome nefrótico congénito tipo finlandés | Nefrosis congénita finlandesa |
| it | Sindrome nefrosica congenita tipo finlandese | Nefrosi congenita finlandese |
| nl | Finse congenitale nefrose | Finnish congenitale nefrose |
| pt | Síndrome nefrótico congénito, tipo finlandês | Nefrose congénita finlandesa |
| pl | Wrodzony zespół nefrotyczny typu fińskiego | Fińska wrodzona nefroza |
| cs | Vrozený nefrotický syndrom finského typu | Finská vrozená nefróza |
| uk | Вроджений нефротичний синдром, фінський тип | Фінський вроджений нефроз |
| zh | 先天性肾脏综合征，Finnish型 | Finnish先天性肾脏病 |
| tr | Doğumsal nefrotik sendrom, Fin tipi | Fin Doğumsal nefrozu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256300 | E | validated | |
| ICD-10 | N04.8 | NTBT | attributed | validated |
| ICD-11 | GB4Z | NTBT | index | validated |
| MONDO | 0009732 | E | validated | |
| MeSH | C535761 | E | validated | |
| UMLS | C0403399 | E | validated | |
| GARD | 1500 | E | validated | |
| MedDRA | 10060740 | 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:564127Genetic nephrotic syndrome
rare genetic diseases; rare renal 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 |
|---|---|---|---|---|---|---|---|---|
| NPHS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7908 | ENSG00000161270 | 602716 | 19q13.12 | NPHS1 adhesion molecule, nephrin | 9660941[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.2 / 100 000 | Finland | Value and class | Validated | 4127143[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/839
- This record as JSON: /data/d/839.json