ORPHA:411709
Renal agenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal agenesis | |
| fr | Agénésie rénale | |
| de | Nierenagenesie | |
| es | Agenesia renal | |
| it | Agenesia renale | |
| nl | Renale agenesie | Agenesie van nier |
| pt | Agenesia renal | |
| pl | Agnezja nerki | |
| cs | Ageneze ledviny | Ageneze ledvin |
| uk | Ниркова агенезія | |
| zh | 肾发育不全 | |
| tr | Böbrek agenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191830 | BTNT | validated | |
| OMIM | 615721 | BTNT | validated | |
| ICD-10 | Q60.0 | BTNT | specific | validated |
| ICD-10 | Q60.1 | BTNT | specific | validated |
| ICD-10 | Q60.2 | BTNT | specific | validated |
| ICD-11 | LB30.00 | E | specific | validated |
| MONDO | 0018470 | E | validated | |
| UMLS | C0542519 | E | validated | |
| GARD | 9228 | E | validated | |
| MedDRA | 10064655 | 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:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
4
Genes
0 direct · 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| FGF20 | ORPHA:1848Renal agenesis, bilateral | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3677 | ENSG00000078579 | 605558 | 8p22 | fibroblast growth factor 20 | 22698282[PMID] |
| GREB1L | ORPHA:1848Renal agenesis, bilateral | 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] |
| GREB1L | ORPHA:93100Renal agenesis, unilateral | 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 | ORPHA:1848Renal agenesis, bilateral | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 18252215[PMID] |
| WNT9B | ORPHA:1848Renal agenesis, bilateral | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12779 | ENSG00000158955 | 602864 | 17q21.32 | Wnt family member 9B | 34145744[PMID] |
| BMP4 | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:1071 | ENSG00000125378 | 112262 | 14q22.2 | bone morphogenetic protein 4 | 21900877[PMID] |
| DSTYK | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:29043 | ENSG00000133059 | 612666 | 1q32.1 | dual serine/threonine and tyrosine protein kinase | 23862974[PMID]_17273976[PMID] |
| FRAS1 | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:19185 | ENSG00000138759 | 607830 | 4q21.21 | Fraser extracellular matrix complex subunit 1 | 21900877[PMID]_24700879[PMID] |
| FREM1 | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:23399 | ENSG00000164946 | 608944 | 9p22.3 | FRAS1 related extracellular matrix 1 | 24370773[PMID]_20807610[PMID] |
| FREM2 | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:25396 | ENSG00000150893 | 608945 | 13q13.3 | FRAS1 related extracellular matrix 2 | 21900877[PMID]_24700879[PMID] |
| GFRA1 | ORPHA:1848Renal agenesis, bilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:4243 | ENSG00000151892 | 601496 | 10q25.3 | GDNF family receptor alpha 1 | 34737117[PMID] |
| ITGA8 | ORPHA:1848Renal agenesis, bilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:6144 | ENSG00000077943 | 604063 | 10p13 | integrin subunit alpha 8 | 24439109[PMID] |
| RET | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 21900877[PMID]_24429398[PMID] |
| UPK3A | ORPHA:93100Renal agenesis, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:12580 | ENSG00000100373 | 611559 | 22q13.31 | uroplakin 3A | 15888565[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24370773[PMID] |
| Prevalence at birth | 1-5 / 10 000 | — | Worldwide | Class only | Validated | 24370773[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
16 annotations · validated 2019-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000104 | Renal agenesis | |
| Frequent (79-30%) | ||
| HP:0000122 | Unilateral renal agenesis | |
| HP:0012300 | Ureteral agenesis | |
| Occasional (29-5%) | ||
| HP:0012873 | Absent vas deferens | |
| HP:0002023 | Anal atresia | |
| HP:0010476 | Aplasia/Hypoplasia of the bladder | |
| HP:0008684 | Aplasia/hypoplasia of the uterus | |
| HP:0010958 | Bilateral renal agenesis | |
| HP:0000822 | Hypertension | |
| HP:0001562 | Oligohydramnios | |
| HP:0002009 | Potter facies | |
| HP:0000093 | Proteinuria | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20984673[PMID]_22698282[PMID]_22698282[PMID]_25053522[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411709
- This record as JSON: /data/d/411709.json