ORPHA:34149
Autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD · Familial juvenile hyperuricemic nephropathy · MCKD · Medullary cystic kidney disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant tubulointerstitial kidney disease | ADTKD · Familial juvenile hyperuricemic nephropathy · MCKD · Medullary cystic kidney disease |
| fr | Néphropathie tubulo-interstitielle autosomique dominante | MCKD · Maladie des kystes médullaires rénaux · Nephropathie hyperuricémique juvénile familiale |
| de | Nierenkrankheit, tubulointerstitielle, autosomal-dominante | ADTKD · MCKD · Nephropathie, familiäre hyperurikämische juvenile · Nierenkrankheit, medulläre zystische, autosomal-dominante |
| es | Enfermedad renal tubulointersticial autosómica dominante | ADTKD · Enfermedad renal quística medular · MCKD · Nefropatía hiperuricémica juvenil familiar |
| it | Malattia renale tubulointerstiziale autosomica dominante | ADTKD · MCKD · Malattia cistica della midollare renale · Nefropatia iperuricemica giovanile familiare |
| nl | Autosomaal dominante tubulo-interstitiële nierziekte | ADTKD · Familiale juveniele hyperurikemische nefropathie · MCKD · Medullaire cystische nierziekte |
| pt | Doença renal tubulointersticial autossómica dominante | Doença renal quística medular · Nefropatia hiperuricémica juvenil familiar |
| pl | Autosomalna dominująca torbielowatość rdzenia nerek z lub bez hiperurykemii | Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek |
| cs | Autozomálně dominantně tubulointersticiální onemocnění ledvin | Autozomálně dominantně dědičná medulární cystická choroba ledvin s nebo bez hyperurikémie |
| uk | Аутосомно-домінантне тубулоінтерстиціальне захворювання нирок | ADTKD · Сімейна ювенільна гіперурикемічна нефропатія · MCKD · Медулярно-кістозна хвороба нирок |
| zh | 常染色体显性遗传性肾小管间质性肾病 | 常染色体显性遗传髓质囊性肾病 |
| tr | Otozomal dominant tubulointerstisyel böbrek hastalığı | MCKD · ADTKD · Otozomal dominant medüller kistik böbrek hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137920 | BTNT | validated | |
| OMIM | 162000 | BTNT | validated | |
| OMIM | 174000 | BTNT | validated | |
| ICD-10 | Q61.5 | E | specific | validated |
| ICD-11 | GB82 | E | specific | validated |
| MONDO | 0008264 | E | validated | |
| MONDO | 8264 | E | validated | |
| UMLS | C4511620 | E | validated | |
| GARD | 10801 | 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 (3):
- ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
Children (4):
- ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:88949MUC1-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:217330REN-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:88950UMOD-related autosomal dominant tubulointerstitial kidney disease
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HNF1B | ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney disease | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 21844708[PMID]_22498247[PMID] |
| MUC1 | ORPHA:88949MUC1-related autosomal dominant tubulointerstitial kidney disease | Disease-causing germline mutation(s) in | Assessed | HGNC:7508 | ENSG00000185499 | 158340 | 1q22 | mucin 1, cell surface associated | 23396133[PMID]_24509297[PMID] |
| REN | ORPHA:217330REN-related autosomal dominant tubulointerstitial kidney disease | Disease-causing germline mutation(s) in | Assessed | HGNC:9958 | ENSG00000143839 | 179820 | 1q32.1 | renin | 21473025[PMID] |
| UMOD | ORPHA:88950UMOD-related autosomal dominant tubulointerstitial kidney disease | Disease-causing germline mutation(s) in | Assessed | HGNC:12559 | ENSG00000169344 | 191845 | 16p12.3 | uromodulin | 20301530[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 121 families | Worldwide | Family(ies) | Validated | 12234310[PMID]_23396133[PMID]_29784615[PMID]_32450155[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11241491[PMID]_15384011[PMID]_29784615[PMID]_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
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/34149
- This record as JSON: /data/d/34149.json