Juvenile nephropathic cystinosis
Synonyms: Intermediate cystinosis · Juvenile cystinosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile nephropathic cystinosis | Intermediate cystinosis · Juvenile cystinosis |
| fr | Cystinose néphropathique juvénile | Cystinose intermédiaire · Cystinose juvénile |
| de | Juvenile nephropathische Cystinose | |
| es | Cistinosis nefropática juvenil | Cistinosis intermedia · Cistinosis juvenil |
| it | Cistinosi nefropatica giovanile | Cistinosi giovanile · Cistinosi intermedia |
| nl | Juveniele nefropathische cystinose | Intermediaire cystinose · Juveniele cystinose |
| pt | Cistinose nefropática juvenil | |
| pl | Młodzieńcza cystynoza nefropatyczna | Cystynoza młodzieńcza · Cystynoza pośrednia |
| cs | Juvenilní nefropatická cystinóza | Intermediární cystinóza · Juvenilní cystinóza |
| uk | Ювенільний нефропатичний цистиноз | Проміжний цистиноз · Ювенільний цистиноз |
| zh | 幼年型肾病性胱氨酸贮积症 | 中间型胱氨酸病 |
| tr | Jüvenil nefropatik sistinoz | Jüvenil sistinoz · Orta düzey sistinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219900 | E | validated | |
| ICD-10 | E72.0+ | NTBT | attributed | validated |
| ICD-10 | N16.3* | NTBT | attributed | validated |
| ICD-11 | 5C60.1 | NTBT | index | validated |
| MONDO | 0009066 | E | validated | |
| MeSH | C562683 | E | validated | |
| UMLS | C0268626 | 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 (3):
- ORPHA:213Cystinosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNS | Disease-causing germline mutation(s) in | Assessed | HGNC:2518 | ENSG00000040531 | 606272 | 17p13.2 | cystinosin, lysosomal cystine transporter | 20301574[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
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
39 annotations · validated 2020-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| Frequent (79-30%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0000531 | Corneal crystals | |
| HP:0003076 | Glycosuria | |
| HP:0003126 | Low-molecular-weight proteinuria | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
| HP:0000093 | Proteinuria | |
| HP:0000114 | Proximal tubulopathy | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000083 | Renal insufficiency | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0012598 | Abnormal urine potassium concentration | |
| HP:0012622 | Chronic kidney disease | |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0032639 | Elevated leukocyte cystine | |
| HP:0001510 | Growth delay | |
| HP:0002901 | Hypocalcemia | |
| HP:0002900 | Hypokalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0003537 | Hypouricemia | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0002907 | Microscopic hematuria | |
| HP:0001959 | Polydipsia | |
| HP:0004396 | Poor appetite | |
| HP:0000117 | Renal phosphate wasting | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| Very rare (<4-1%) | ||
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0001944 | Dehydration | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0011106 | Hypovolemia | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18178779[PMID]_20301574[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411634
- This record as JSON: /data/d/411634.json