ORPHA:93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Synonyms: ADTKD-HNF1B · HNF1B-MODY · HNF1B-related nephropathy · MODY5 · Maturity-onset diabetes of the young type 5 · RCAD syndrome · Renal cysts and diabetes syndrome · Renal dysfunction-early-onset diabetes syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of <i>HNF1B</i>, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HNF1B-related autosomal dominant tubulointerstitial kidney disease | ADTKD-HNF1B · HNF1B-MODY · HNF1B-related nephropathy · MODY5 · Maturity-onset diabetes of the young type 5 · RCAD syndrome · Renal cysts and diabetes syndrome · Renal dysfunction-early-onset diabetes syndrome |
| fr | Néphropathie tubulo-interstitielle autosomique dominante associée à HNF1B | ADTKD-HNF1B · Diabète juvénile type 5 · HNF1B-MODY · MODY5 · Néphropathie associée à HNF1B · Syndrome RCAD · Syndrome kystes rénaux-diabète juvénile |
| de | HNF1B-assoziierte autosomal-dominante tubulointerstitielle Nierenerkrankung | HNF1B-MODY · HNF1B-assoziierte Nephropathie · MODY5 · Nierendysfunktion-früh einsetzender Diabetes-Syndrom · Nierenzysten und Diabetes-Syndrom · Nierenzysten und Diabetes-Syndrom, HNF1B-assoziiertes · RCAD-Syndrom |
| es | Enfermedad renal tubulointersticial autosómica dominante asociada a HNF1B | ADTKD-HNF1B · Diabetes del adulto de inicio juvenil tipo 5 · HNF1B-MODY · MODY5 · Nefropatía asociada a HNF1B · Síndrome RCAD · Síndrome de disfunción renal y diabetes de inicio precoz · Síndrome de quistes renales y diabetes |
| it | Nefropatia tubulo-interstiziale autosomica dominante correlata a HNF1B | ADTKD-HNF1B · Diabete giovanile a esordio nella maturità tipo 5 · HNF1B-MODY · MODY5 · Nefropatia correlata a HNF1B · Sindrome RCAD · Sindrome da cisti renali e diabete · Sindrome da disfunzione renale e diabete a esordio precoce |
| nl | HNF1B-gerelateerde autosomaal dominante tubulo-interstitiële nierziekte | ADTKD-HNF1B · HNF1B-MODY · HNF1B-gerelateerde nefropathie · MODY5 · Nierdisfunctie - vroeg optredende diabetes-syndroom · Ouderdomsdiabetes bij jongeren type 5 · RCAD-syndroom · Syndroom van niercysten en diabetes |
| pt | Doença tubulo-intersticial renal autossómica dominante HNF1B-relacionada | MODY5 · Nefropatia HNF1B-relacionada · Síndrome de disfunção renal-diabetes de início precoce · Síndrome de quistos renais-diabetes |
| pl | Zespół torbiele nerek i cukrzyca | Dysfunkcja nerek - cukrzyca o wczesnym poczatku · MODY5 · Torbiele nerek - MODY · Zespół RCAD · Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek związana z HNF1B |
| cs | Autozomálně dominantní tubulointersticiální onemocnění ledvin související s HNF1B | HNF1B-MODY · MODY5 · RCAD syndrom · Syndrom zahrnující renální cysty a MODY diabetes · Syndrom zahrnující renální dysfunkci a diabetes s časným nástupem · Syndrom renálních cyst a diabetes |
| uk | HNF1B-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок | ADTKD-HNF1B · HNF1B-MODY · Нефропатія, повязана з HNF1B · Цукровий діабет молодого віку 5 типу, що починається в зрілому віці · MODY5 · Синдром RCAD · Кісти нирок і діабетичний синдром · Синдром ниркової дисфункції - раннього діабету |
| zh | HNF1B相关常染色体显性肾小管间质性肾病 | 肾功能不全-早发型糖尿病综合征 |
| tr | HNF1B-ilişkili otozomal dominant tubulointerstisyel böbrek hastalığı | MODY5 · HNF1B-MODY · ADTKD-HNF1B · RCAD sendromu · Böbrek kistleri ve diyabet sendromu · Erişkin-başlangıçlı diyabet tip 5 · Böbrek disfonksiyonu-erken başlangıçlı diyabet sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137920 | E | validated | |
| ICD-10 | N11.8 | NTBT | attributed | validated |
| ICD-11 | 5A13.6 | NTBT | index | validated |
| MONDO | 0007669 | E | validated | |
| MeSH | C535520 | E | validated | |
| UMLS | C0431693 | 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 (4):
- ORPHA:34149Autosomal dominant tubulointerstitial kidney disease
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:181376Rare diabetes mellitus type 2
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1B | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 21844708[PMID]_22498247[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | 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.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000083 | Renal insufficiency | |
| Frequent (79-30%) | ||
| HP:0000819 | Diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0012093 | Abnormality of endocrine pancreas physiology | |
| HP:0012092 | Abnormality of exocrine pancreas physiology | |
| HP:0012873 | Absent vas deferens | |
| HP:0001919 | Acute kidney injury | |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas | |
| HP:0001369 | Arthritis | |
| HP:0000813 | Bicornuate uterus | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0100820 | Glomerulopathy | |
| HP:0000365 | Hearing impairment | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000085 | Horseshoe kidney | |
| HP:0002149 | Hyperuricemia | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0001382 | Joint hypermobility | |
| HP:0000303 | Mandibular prognathia | |
| HP:0009715 | Papillary cystadenoma of the epididymis | |
| HP:0001959 | Polydipsia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000104 | Renal agenesis | |
| HP:0005584 | Renal cell carcinoma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16249435[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93111
- This record as JSON: /data/d/93111.json