Renal tubular dysgenesis
Synonyms: Primitive renal tubule syndrome · Renotubular dysgenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal tubular dysgenesis | Primitive renal tubule syndrome · Renotubular dysgenesis |
| fr | Dysgénésie tubulaire rénale | |
| de | Dysgenesie, renale tubuläre | Dysgenesie der Nierentubuli · Primitives renal-tubuläres Syndrom · Renal-tubuläre Dysgenesie |
| es | Disgenesia tubular renal | Disgenesia renotubular · Síndrome tubulorrenal primitivo |
| it | Disgenesia dei tubuli renali | Disgenesia tubulare renale · Sindrome primitiva dei tubuli renali |
| nl | Renale tubulaire dysgenesie | Dysgenesie van niertubuli · Primitieve niertubuli-syndroom · Renotubulaire dysgenesie |
| pt | Disgenesia tubular renal | Disgenesia renotubular · Síndrome tubulo-renal primitivo |
| pl | Dysgenezja kanalików nerkowych | Dysgenezja nerkowo-kanalikowa · Zespół niezróżnicowanych kanalików nerkowych |
| cs | Renální tubulární dysgeneze | Primitivní renální tubulární syndrom · Renotubulární dysgeneze |
| uk | Дисгенезія ниркових канальців | Синдром примітивних ниркових канальців · Ренотубулярна дисгенезія |
| zh | 肾小管发育不全 | 原发性肾小管综合征 |
| tr | Renal tübüler disgenezi | Renotübüler disgenezi · Primitif renal tübül sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267430 | BTNT | validated | |
| ICD-10 | Q63.8 | NTBT | attributed | validated |
| ICD-11 | LB30.3 | E | specific | validated |
| MONDO | 0017609 | E | validated | |
| UMLS | C0266313 | E | validated | |
| GARD | 379 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
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 |
|---|---|---|---|---|---|---|---|---|---|
| ACE | ORPHA:97369Renal tubular dysgenesis of genetic origin | Disease-causing germline mutation(s) in | Assessed | HGNC:2707 | ENSG00000159640 | 106180 | 17q23.3 | angiotensin I converting enzyme | 16116425[PMID]_22095942[PMID] |
| AGT | ORPHA:97369Renal tubular dysgenesis of genetic origin | Disease-causing germline mutation(s) in | Assessed | HGNC:333 | ENSG00000135744 | 106150 | 1q42.2 | angiotensinogen | 16116425[PMID]_22095942[PMID] |
| AGTR1 | ORPHA:97369Renal tubular dysgenesis of genetic origin | Disease-causing germline mutation(s) in | Assessed | HGNC:336 | ENSG00000144891 | 106165 | 3q24 | angiotensin II receptor type 1 | 16116425[PMID]_22095942[PMID] |
| REN | ORPHA:97369Renal tubular dysgenesis of genetic origin | Disease-causing germline mutation(s) in | Assessed | HGNC:9958 | ENSG00000143839 | 179820 | 1q32.1 | renin | 16116425[PMID]_22095942[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | 16790508[PMID]_19344005[PMID]_ 33163725[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.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0005562 | Multiple renal cysts | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0000114 | Proximal tubulopathy | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008660 | Renotubular dysgenesis | |
| Occasional (29-5%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000252 | Microcephaly | |
| HP:0000112 | Nephropathy | |
| HP:0001562 | Oligohydramnios | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3033
- This record as JSON: /data/d/3033.json