ORPHA:88949
MUC1-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-MUC1 · MCKD1 · MUC1-related medullary cystic kidney disease · MUCI-related ADTKD · Medullary cystic kidney disease type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to <i>MUC1</i> mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MUC1-related autosomal dominant tubulointerstitial kidney disease | ADTKD-MUC1 · MCKD1 · MUC1-related medullary cystic kidney disease · MUCI-related ADTKD · Medullary cystic kidney disease type 1 |
| fr | Néphropathie tubulo-intersitielle autosomique dominante associée à MUC1 | MCKD1 · Maladie des kystes médullaires rénaux associée à MUC1 · Maladie des kystes médullaires rénaux type 1 |
| de | Nierenerkrankung, tubulointerstitielle, autosomal-dominante, MUC1-assoziierte | ADTKD-MUC1 · MCKD1 · MUCI-assoziierte ADTKD · Nierenerkrankung, medulläre zystische, Typ 1 · Nierenerkrankung, medulläre zystische, autosomal-dominante, MUC1-assoziiert |
| es | Enfermedad renal tubulointersticial autosómica dominante asociada a MUC1 | MCKD1 · Nefropatía quística medular tipo 1 · ADTKD asociada a MUC1 · ADTKD-MUC1 · Enfermedad renal quística medular asociada a MUC1 · Enfermedad renal quística medular tipo 1 |
| it | Nefropatia tubulo-interstiziale autosomica dominante correlata a MUC1 | ADTKD correlata a MUCI · ADTKD-MUC1 · MCKD1 · Malattia cistica della midollare renale correlata a MUC1 · Malattia cistica della midollare renale tipo 1 |
| nl | MUC1-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte | ADTKD-MUC1 · MCKD1 · MUC1-gerelateerde medullaire cystische nierziekte · MUCI-gerelateerde ADTKD · Medullaire cystische nierziekte type 1 |
| pt | Doença tubulo-intersticial renal autossómica dominante MUC1-relacionada | ADTKD-MUC1 · Doença medular renal quística MUC1-relacionada · Doença medular renal quística medular tipo 1 |
| pl | Autosomalna dominująca torbielowatość rdzenia nerek bez hiperurykemii | Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z MUC1 |
| cs | Autozomálně dominantní tubulointersticiální onemocnění ledvin související s MUC1 | Autozomálně dominantní dřeňová cystická nemoc ledvin bez hyperurikémie |
| uk | MUC1-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок | ADTKD-MUC1 · MCKD1 · Медулярно-кістозна хвороба нирок типу 1 · MUC1-асоційована медулярна кістозна хвороба нирок · АДТКЗ, повязана з MUCI |
| zh | MUC1相关常染色体显性遗传性肾小管间质肾疾病 | 肾髓质囊肿病1型 |
| tr | MUC1-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı | MUC1-ilişkili otozomal baskın medüller kistik böbrek hastalığı · MCKD1 · ADTKD-MUC1 · MUCI-ilişkili ADTKD · Medüller kistik böbrek hastalığı tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174000 | E | validated | |
| ICD-10 | Q61.5 | NTBT | attributed | validated |
| ICD-11 | GB82 | NTBT | index | validated |
| MONDO | 0020726 | E | validated | |
| MeSH | C536137 | E | validated | |
| UMLS | C1868139 | E | validated | |
| GARD | 7002 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MUC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7508 | ENSG00000185499 | 158340 | 1q22 | mucin 1, cell surface associated | 23396133[PMID]_24509297[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United States | Value and class | Validated | 31488840[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Ireland | Value and class | Validated | 31488840[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
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/88949
- This record as JSON: /data/d/88949.json