ORPHA:93592
Juvenile nephronophthisis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Nephronophthisis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile nephronophthisis | |
| fr | Néphronophtise juvénile | |
| de | Nephronophthise, juvenile Form | |
| es | Nefronoptisis juvenil | |
| it | Nefronoftisi giovanile | |
| nl | Juveniele nefronoftise | |
| pt | Doença renal quística medular, autossómica recessiva, juvenil | |
| pl | Nefronoftyza młodzieńcza | |
| cs | Juvenilní forma nefronoftízy | |
| uk | Ювенільний нефронофтіз | |
| zh | 少年型肾结核 | |
| tr | Juvenil nefronoftiz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256100 | NTBT | validated | |
| OMIM | 615382 | BTNT | validated | |
| ICD-10 | Q61.5 | NTBT | attributed | validated |
| ICD-11 | GB83 | NTBT | index | validated |
| MONDO | 0009728 | E | validated | |
| MeSH | C537699 | E | validated | |
| UMLS | C1855681 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:655Nephronophthisis
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLIS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29450 | ENSG00000126603 | 608539 | 16p13.3 | GLIS family zinc finger 2 | 17618285[PMID] |
| MAPKBP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29536 | ENSG00000137802 | 616786 | 15q15.1 | mitogen-activated protein kinase binding protein 1 | 28089251[PMID] |
| ADAMTS9 | Disease-causing germline mutation(s) in | Assessed | HGNC:13202 | ENSG00000163638 | 605421 | 3p14.1 | ADAM metallopeptidase with thrombospondin type 1 motif 9 | 30609407[PMID] |
| ANKS6 | Disease-causing germline mutation(s) in | Assessed | HGNC:26724 | ENSG00000165138 | 615370 | 9q22.33 | ankyrin repeat and sterile alpha motif domain containing 6 | 23793029[PMID] |
| NPHP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7905 | ENSG00000144061 | 607100 | 2q13 | nephrocystin 1 | |
| NPHP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:19104 | ENSG00000131697 | 607215 | 1p36.31 | nephrocystin 4 | |
| WDR19 | Disease-causing germline mutation(s) in | Assessed | HGNC:18340 | ENSG00000157796 | 608151 | 4p14 | WD repeat domain 19 | 22019273[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93592
- This record as JSON: /data/d/93592.json