ORPHA:88950
UMOD-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-UMOD · Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation · Familial juvenile hyperuricemic nephropathy type 1 · MCKD2 · Medullary cystic kidney disease type 2 · UAKD · UMOD kidney disease · UMOD-related ADTKD · Uromodulin-associated kidney disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to <i>UMOD</i> mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | UMOD-related autosomal dominant tubulointerstitial kidney disease | ADTKD-UMOD · Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation · Familial juvenile hyperuricemic nephropathy type 1 · MCKD2 · Medullary cystic kidney disease type 2 · UAKD · UMOD kidney disease · UMOD-related ADTKD · Uromodulin-associated kidney disease |
| fr | Néphropathie tubulo-interstitielle autosomique dominante associée à UMOD | MCKD2 · Maladie des kystes médullaires rénaux type 2 · Nephropathie hyperuricémique juvénile familiale type 1 · Néphropathie par mutation du gène de l'uromoduline |
| de | Nierenerkrankung, tubulointerstitielle, autosomal-dominante, UMOD-assoziierte | ADTKD-UMOD · MCKD2 · Nephropathie, familiäre hyperurikämische juvenile, Typ 1 · Nierenerkrankung, medulläre zystische, Typ 2 · UMOD-assoziierte ADTKD · Uromodulin-assoziierte Nierenerkrankung |
| es | Enfermedad renal tubulointersticial autosómica dominante asociada a UMOD | ADTKD-UMOD · Enfermedad renal UMOD · Enfermedad renal asociada a uromodulina · Enfermedad renal quística medular tipo 2 · Enfermedad renal tubulointersticial autosómica dominante por una mutación en el gen UMOD · MCKD2 · Nefropatía hiperuricémica juvenil familiar tipo 1 · UAKD · ADTKD asociada a UMOD |
| it | Nefropatia tubulointerstiziale autosomica dominante correlata a UMOD | ADTKD correlata a UMOD · ADTKD-UMOD · MCKD2 · Malattia cistica della midollare renale tipo 2 · Nefropatia associata all'uromodulina · Nefropatia associata alluromodulina · Nefropatia correlata a UMOD · Nefropatia iperuricemica giovanile familiare tipo 1 · Nefropatia tubulointerstiziale autosomica dominante da mutazione di UMOD · UAKD |
| nl | UMOD-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte | ADTKD-UMOD · Autosomaal dominante tubulo-interstitiële nierziekte door UMOD-mutatie · Familiale juveniele hyperurikemische nefropathie type 1 · MCKD2 · Medullaire cystische nierziekte type 2 · UAKD · UMOD-gerelateerde ADTKD · UMOD-nierziekte · Uromoduline-geassocieerde nierziekte |
| pt | Doença renal tubulo-intersticial autossómica dominante UMOD-relacionada | ADTKD UMOD-relacionada · ADTKD-UMOD · Doença renal UMOD · Doença renal medular quística tipo 2 · Doença renal tubulo-intersticial autossómica dominante por mutação em UMOD · Doença renal uromodulina-relacionada · MCKD2 · Nefropatia hiperuricémica juvenil familiar tipo 1 · UAKD |
| pl | Autosomalna dominująca torbielowatość rdzenia nerek z hiperurykemią | Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z UMOD · Związana z UMOD autosomalna dominująca choroba cewkowo-śródmiąższowa nerek |
| cs | Autozomálně dominantní tubulointersticiální onemocnění ledvin související s UMOD | Autozomálně dominantní dřeňová cystická nemoc ledvin s hyperurikémií |
| uk | UMOD-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок | ADTKD-UMOD · Аутосомно-домінантна тубулоінтерстиціальна хвороба нирок, зумовлена мутацією UMOD · Сімейна ювенільна гіперурикемічна нефропатія типу 1 · MCKD2 · Медулярно-кістозна хвороба нирок 2 типу · UAKD · Захворювання нирок UMOD · ADTKD, повязаний з UMOD · Уромодулін-асоційоване захворювання нирок |
| zh | UMOD相关常染色体显性遗传性肾小管间质肾疾病 | 常染色体显性遗传性肾髓质囊肿病2型 |
| tr | UMOD-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı | MCKD2 · ADTKD-UMOD · UMOD-ilişkili ADTKD · Uromodulin böbrek hastalığı · Uromodulin-ilişkili böbrek hastalığı · Ailesel jüvenil hiperürisemik nefropati tip 1 · Otozomal dominant medüller kistik böbrek hastalığı tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162000 | E | validated | |
| ICD-10 | Q61.5 | NTBT | attributed | validated |
| ICD-11 | GB82 | NTBT | index | validated |
| MONDO | 0008073 | E | validated | |
| MeSH | C548033 | E | validated | |
| UMLS | C1859040 | E | validated | |
| GARD | 10679 | 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 (2):
- ORPHA:34149Autosomal dominant tubulointerstitial kidney disease
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:209886OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UMOD | Disease-causing germline mutation(s) in | Assessed | HGNC:12559 | ENSG00000169344 | 191845 | 16p12.3 | uromodulin | 20301530[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 1.7 / 100 000 | Austria | Value and class | Validated | 22740033[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 9 / 100 000 | United Kingdom | Value and class | Validated | 30376835[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_21868615[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.
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/88950
- This record as JSON: /data/d/88950.json