ORPHA:93623
Dent disease type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dent disease type 2 | |
| fr | Maladie de Dent type 2 | |
| de | Dent-Krankheit Typ 2 | |
| es | Enfermedad de Dent tipo 2 | |
| it | Malattia di Dent tipo 2 | |
| nl | Ziekte van Dent type 2 | |
| pt | Doença Dent tipo 2 | |
| pl | Choroba Denta typu 2 | Kamica nerkowa typu 2 |
| cs | Nefrolitiáza, typ 2 | Dentova choroba, typ 2 |
| uk | Хвороба Дента, тип 2 | |
| zh | Dent病2型 | 肾结石2型 |
| tr | Dent hastalığı tip 2 | Nefrolitiyazis tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300555 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.42 | NTBT | index | validated |
| MONDO | 0010359 | E | validated | |
| MeSH | C564487 | E | validated | |
| UMLS | C1845167 | 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:1652Dent disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OCRL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8108 | ENSG00000122126 | 300535 | Xq26.1 | OCRL inositol polyphosphate-5-phosphatase | 22876375[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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/93623
- This record as JSON: /data/d/93623.json