ORPHA:1848
Renal agenesis, bilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal agenesis, bilateral | |
| fr | Agénésie rénale bilatérale | |
| de | Nierenagenesie, bilaterale | |
| es | Agenesia renal bilateral | |
| it | Agenesia renale bilaterale | |
| nl | Agenesie van nier, bilateraal | Renale agenesie, bilateraal |
| pt | Agenesia renal, bilateral | |
| pl | Agnezja nerek, obustronna | |
| cs | Oboustranná ageneze ledvin | |
| uk | Ниркова агенезія, двостороння | |
| zh | 肾缺如，双侧 | |
| tr | Renal agenezi, bilateral |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191830 | E | validated | |
| OMIM | 615721 | BTNT | validated | |
| OMIM | 617805 | NTBT | validated | |
| OMIM | 619887 | BTNT | validated | |
| ICD-10 | Q60.1 | E | specific | validated |
| ICD-11 | LB30.00 | NTBT | index | validated |
| MONDO | 0015986 | E | validated | |
| MeSH | C536482 | E | validated | |
| UMLS | C1609433 | 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 (1):
- ORPHA:411709Renal agenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF20 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3677 | ENSG00000078579 | 605558 | 8p22 | fibroblast growth factor 20 | 22698282[PMID] |
| GREB1L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:31042 | ENSG00000141449 | 617782 | 18q11.1-q11.2 | GREB1 like retinoic acid receptor coactivator | 29100090[PMID]_29100091[PMID] |
| RET | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 18252215[PMID] |
| WNT9B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12779 | ENSG00000158955 | 602864 | 17q21.32 | Wnt family member 9B | 34145744[PMID] |
| GFRA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4243 | ENSG00000151892 | 601496 | 10q25.3 | GDNF family receptor alpha 1 | 34737117[PMID] |
| ITGA8 | Disease-causing germline mutation(s) in | Assessed | HGNC:6144 | ENSG00000077943 | 604063 | 10p13 | integrin subunit alpha 8 | 24439109[PMID] |
5
Prevalence and incidence
18 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Europe | Value and class | Validated | 16053904[PMID]_EUROCAT European surveillance of congenital anomalies 2009-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.8 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.7 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.6 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.1 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet 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.
6
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000457 | Depressed nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0001958 | Nonketotic hypoglycemia | |
| HP:0001562 | Oligohydramnios | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000104 | Renal agenesis | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0001563 | Fetal polyuria | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0100589 | Urogenital fistula | |
| Occasional (29-5%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000175 | Cleft palate | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0010497 | Sirenomelia | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1848
- This record as JSON: /data/d/1848.json