ORPHA:238517
Hypotonia-cystinuria type 1 syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- 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 | Hypotonia-cystinuria type 1 syndrome | |
| fr | Syndrome d'hypotonie-cystinurie type 1 | |
| de | Hypotonie-Cystinurie-Syndrom Typ 1 | |
| es | Síndrome de hipotonía-cistinuria tipo 1 | |
| it | Sindrome ipotonia-cistinuria, tipo 1 | |
| nl | Hypotonie - cystinurie-syndroom type 1 | |
| pt | Hipotonia - cistinúria tipo 1 | |
| pl | Zespół hipotonii i cystynurii typu 1 | |
| cs | Syndrom zahrnující hypotonii a cystinurii, typ 1 | |
| uk | Синдром гіпотонії-цистинурії 1 типу | |
| zh | 低张力性胱氨酸尿1型综合征 | |
| tr | Hipotoni-sistinüri tip 1 sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | GB90.40 | E | specific | validated |
| MONDO | 11669 | E | validated | |
| UMLS | C5680931 | 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 (5):
- ORPHA:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:369886Homozygous 2p21 microdeletion syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238517
- This record as JSON: /data/d/238517.json