ORPHA:213
Cystinosis
Synonyms: Protein defect of cystin transport
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystinosis | Protein defect of cystin transport |
| fr | Cystinose | Déficit en transporteur de la cystine |
| de | Cystinose | Zystinose |
| es | Cistinosis | Deficiencia de transportador de cistina |
| it | Cistinosi | Deficit del trasportatore della cistina |
| nl | Cystinose | Eiwitdefect van cystinetransport |
| pt | Cistinose | Defeito proteico no transporte de cistina |
| pl | Cystynoza | Białkowy defekt transportu cystyny |
| cs | Cystinóza | Porucha transportu cystinu způsobená poruchou membránového proteinu |
| uk | Цистиноз | Дефект білка транспорту цистину |
| zh | 胱氨酸贮积症 | 胱氨酸转运蛋白缺陷症 |
| tr | Sistinoz | Sistin taşınmasının protein defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219800 | BTNT | validated | |
| OMIM | 219900 | BTNT | validated | |
| ICD-10 | E72.0 | NTBT | inclusion | validated |
| ICD-11 | 5C60.1 | E | specific | validated |
| MONDO | 0016239 | E | validated | |
| MeSH | D003554 | E | validated | |
| UMLS | C4316899 | E | validated | |
| GARD | 6236 | E | validated | |
| MedDRA | 10011777 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79207Disorder of lysosomal amino acid transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:437Hypophosphatemic rickets
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases
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Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| CTNS | ORPHA:411629Infantile nephropathic cystinosis | Disease-causing germline mutation(s) in | Assessed | HGNC:2518 | ENSG00000040531 | 606272 | 17p13.2 | cystinosin, lysosomal cystine transporter | 20301574[PMID] |
| CTNS | ORPHA:411634Juvenile nephropathic cystinosis | Disease-causing germline mutation(s) in | Assessed | HGNC:2518 | ENSG00000040531 | 606272 | 17p13.2 | cystinosin, lysosomal cystine transporter | 20301574[PMID] |
| CTNS | ORPHA:411641Ocular cystinosis | Disease-causing germline mutation(s) in | Assessed | HGNC:2518 | ENSG00000040531 | 606272 | 17p13.2 | cystinosin, lysosomal cystine transporter | 20301574[PMID] |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Worldwide | Value and class | Validated | 12110740[PMID]_18008091[PMID]_11562417[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 / 100 000 | France | Value and class | Validated | 1018302[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.59 / 100 000 | Germany | Value and class | Validated | 3921756[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.1 / 100 000 | United Kingdom | Value and class | Validated | 9610798[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.52 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Specific population | Value and class | Validated | 1937486[PMID]_25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 / 100 000 | Denmark | Value and class | Validated | 975942[PMID]_27102039[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID]_27102039[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.
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HPO phenotypes
56 annotations · validated 2024-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0007957 | Corneal opacity | |
| HP:0001944 | Dehydration | |
| HP:0000823 | Delayed puberty | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0002900 | Hypokalemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0009806 | Nephrogenic diabetes insipidus | |
| HP:0000112 | Nephropathy | |
| HP:0000613 | Photophobia | |
| HP:0001959 | Polydipsia | |
| HP:0000093 | Proteinuria | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0004322 | Short stature | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0012072 | Aciduria | |
| HP:0000585 | Band keratopathy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0011968 | Feeding difficulties | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002901 | Hypocalcemia | |
| HP:0000135 | Hypogonadism | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002749 | Osteomalacia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000488 | Retinopathy | |
| HP:0002748 | Rickets | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0012093 | Abnormality of endocrine pancreas physiology | |
| HP:0002381 | Aphasia | |
| HP:0000027 | Azoospermia | |
| HP:0002019 | Constipation | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0003234 | Decreased circulating carnitine concentration | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0001945 | Fever | |
| HP:0001288 | Gait disturbance | |
| HP:0001952 | Glucose intolerance | |
| HP:0002902 | Hyponatremia | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002024 | Malabsorption | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001409 | Portal hypertension | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 27102039[PMID]_20301574[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/213
- This record as JSON: /data/d/213.json