ORPHA:506213
Rare disorder potentially indicated for kidney transplant
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder potentially indicated for kidney transplant | |
| fr | Maladie rare possiblement indiquée pour la transplantation rénale | |
| de | Seltene Erkrankung zur potentiellen Nieren-Transplantation indiziert | |
| es | Trastorno raro potencialmente indicado para trasplante renal | |
| it | Malattia rara con indicazione al trapianto renale | |
| nl | Zeldzame aandoening mogelijk geïndiceerd voor niertransplantatie | |
| pt | Doença rara com potencial indicação para transplante renal | |
| pl | Choroba rzadka będąca potencjalnym wskazaniem do przeszczepu nerki | |
| cs | Vzácná porucha indikovaná k transplantaci ledvin | |
| uk | Рідкісне захворювання, яке може бути показанням для трансплантації нирки | |
| zh | 可能适用于肾脏移植的罕见疾病 | |
| tr | Böbrek nakli için potansiyel olarak endike olan nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681219 | 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):
- ORPHA:565779Rare disorder potentially indicated for transplant or complication after transplantation
Parents in the classifications (1):
- ORPHA:506207Rare disorder potentially indicated for transplant
rare transplant-related disorders
Children (92):
- ORPHA:24346,XX gonadal dysgenesis
- ORPHA:213846,XX ovotesticular difference of sex development
- ORPHA:39346,XX testicular difference of sex development
- ORPHA:24246,XY complete gonadal dysgenesis
- ORPHA:32535746,XY difference of sex development due to impaired androgen production
- ORPHA:32553746,XY difference of sex development induced by maternal exposure to endocrine disruptors
- ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- ORPHA:32534546,XY ovotesticular difference of sex development
- ORPHA:25151046,XY partial gonadal dysgenesis
- ORPHA:91136Acquired monoclonal Ig light chain-associated Fanconi syndrome
- ORPHA:976Adenine phosphoribosyltransferase deficiency
- ORPHA:2666Adult familial nephronophthisis-spastic quadriparesia syndrome
- ORPHA:64Alström syndrome
- ORPHA:320Apparent mineralocorticoid excess
- ORPHA:544628Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
- ORPHA:730Autosomal dominant polycystic kidney disease
- ORPHA:88924Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- ORPHA:88659Autosomal dominant progressive nephropathy with hypertension
- ORPHA:34149Autosomal dominant tubulointerstitial kidney disease
- ORPHA:300547Autosomal recessive infantile hypercalcemia
- ORPHA:731Autosomal recessive polycystic kidney disease
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:620217Bartter syndrome type 1
- ORPHA:620220Bartter syndrome type 2
- ORPHA:93605Bartter syndrome type 3
- ORPHA:89938Bartter syndrome type 4
- ORPHA:1276Brachydactyly-arterial hypertension syndrome
- ORPHA:1380Cataract-nephropathy-encephalopathy syndrome
- ORPHA:457246Clear cell sarcoma of kidney
- ORPHA:2665Congenital mesoblastic nephroma
- ORPHA:97598Congenital renal artery stenosis
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:214Cystinuria
- ORPHA:1652Dent disease
- ORPHA:18Distal renal tubular acidosis
- ORPHA:244305Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- ORPHA:1031Enamel-renal syndrome
- ORPHA:324Fabry disease
- ORPHA:235936Familial hyperaldosteronism
- ORPHA:424Familial hyperthyroidism due to mutations in TSH receptor
- ORPHA:84Fanconi anemia
- ORPHA:637Full NF2-related schwannomatosis
- ORPHA:93921Full schwannomatosis
- ORPHA:620371Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
- ORPHA:404476Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
- ORPHA:93548Glomerular disease
- ORPHA:544458Hemolytic uremic syndrome
- ORPHA:94088Hereditary renal hypouricemia
- ORPHA:88660Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
- ORPHA:363694Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- ORPHA:528105Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
- ORPHA:238517Hypotonia-cystinuria type 1 syndrome
- ORPHA:206428Hypoxanthine-guanine phosphoribosyltransferase deficiency
- ORPHA:2197Idiopathic hypercalciuria
- ORPHA:411629Infantile nephropathic cystinosis
- ORPHA:474Jeune syndrome
- ORPHA:2318Joubert syndrome with oculorenal defect
- ORPHA:220497Joubert syndrome with renal defect
- ORPHA:411634Juvenile nephropathic cystinosis
- ORPHA:401996Karyomegalic interstitial nephritis
- ORPHA:650LCAT deficiency
- ORPHA:526Liddle syndrome
- ORPHA:363534Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- ORPHA:97366Multiloculated renal cyst
- ORPHA:654Nephroblastoma
- ORPHA:655Nephronophthisis
- ORPHA:636Neurofibromatosis type 1
- ORPHA:93546Non-syndromic renal or urinary tract malformation
- ORPHA:165704Non-syndromic urogenital tract malformation
- ORPHA:534Oculocerebrorenal syndrome of Lowe
- ORPHA:3337Primary Fanconi renotubular syndrome
- ORPHA:416Primary hyperoxaluria
- ORPHA:306516Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- ORPHA:757Pseudohypoaldosteronism type 2
- ORPHA:758Pseudoxanthoma elasticum
- ORPHA:140976RHYNS syndrome
- ORPHA:693839Renal arteriovenous malformation
- ORPHA:217071Renal cell carcinoma
- ORPHA:294415Renal-hepatic-pancreatic dysplasia
- ORPHA:140969Saldino-Mainzer syndrome
- ORPHA:84081Senior-Boichis syndrome
- ORPHA:3156Senior-Loken syndrome
- ORPHA:93547Syndromic renal or urinary tract malformation
- ORPHA:54057Thrombotic thrombocytopenic purpura
- ORPHA:805Tuberous sclerosis complex
- ORPHA:882Tyrosinemia type 1
- ORPHA:443988Ventriculomegaly-cystic kidney disease
- ORPHA:28Vitamin B12-responsive methylmalonic acidemia
- ORPHA:27Vitamin B12-unresponsive methylmalonic acidemia
- ORPHA:904Williams syndrome
- ORPHA:1770XY type gonadal dysgenesis-associated anomalies syndrome
- ORPHA:912Zellweger syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/506213
- This record as JSON: /data/d/506213.json