Infantile nephropathic cystinosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile nephropathic cystinosis | |
| fr | Cystinose néphropathique infantile | |
| de | Infantile nephropathische Cystinose | |
| es | Cistinosis nefropática infantil | |
| it | Cistinosi nefropatica infantile | |
| nl | Infantiele nefropathische cystinose | |
| pt | Cistinose nefropática da infância | |
| pl | Niemowlęca cystynoza nefropatyczna | |
| cs | Infantilní nefropatická cystinóza | |
| uk | Інфантильний нефропатичний цистиноз | |
| zh | 肾病性婴儿胱氨酸贮积症 | |
| tr | Nefropatik infantil sistinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219800 | NTBT | validated | |
| ICD-10 | E72.0+ | NTBT | attributed | validated |
| ICD-10 | N16.3* | NTBT | attributed | validated |
| ICD-11 | 5C60.1 | NTBT | index | validated |
| MONDO | 0018467 | E | validated | |
| MeSH | C565655 | E | validated | |
| UMLS | C3537440 | 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 | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_12110740[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.
HPO phenotypes
27 annotations · validated 2017-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003111 | Abnormal blood ion concentration | |
| HP:0100511 | Abnormality of vitamin D metabolism | |
| HP:0001941 | Acidosis | |
| HP:0003355 | Aminoaciduria | |
| HP:0002019 | Constipation | |
| HP:0000531 | Corneal crystals | |
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0004918 | Hyperchloremic metabolic acidosis | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002900 | Hypokalemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0003126 | Low-molecular-weight proteinuria | |
| HP:0000613 | Photophobia | |
| HP:0001959 | Polydipsia | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0002748 | Rickets | |
| HP:0001969 | Tubulointerstitial abnormality | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0000580 | Pigmentary retinopathy | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0100543 | Cognitive impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25165189[PMID]_21980659[PMID]_18075494[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411629
- This record as JSON: /data/d/411629.json