ORPHA:238523
Atypical hypotonia-cystinuria syndrome
Synonyms: Atypical HCS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical hypotonia-cystinuria syndrome | Atypical HCS |
| fr | Syndrome d'hypotonie-cystinurie atypique | HCS atypique |
| de | Atypische Hypotonie-Cystinurie-Syndrom | HCS, atypisch |
| es | Síndrome de hipotonía-cistinuria atípico | HCS atípico |
| it | Sindrome ipotomia e cistinuria atipica | HCS atipica |
| nl | Atypisch hypotonie - cystinurie-syndroom | Atypisch HCS |
| pt | Hipotonia atípica - síndrome de cistinúria | |
| pl | Atypowy zespół hipotonia - cystynuria | Atypowy HCS |
| cs | Atypický syndrom hypotonie a cystinurie | Atypický HCS |
| uk | Синдром атипової гіпотонії-цистинурії | Атиповий HCS |
| zh | 非典型肌张力低下-胱氨酸尿症综合征 | 非典型HCS |
| tr | Atipik hipotoni-sistinüri sendromu | Atipik HCS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606407 | NTBT | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | GB90.40 | NTBT | index | validated |
| MONDO | 0016539 | E | validated | |
| UMLS | C4755274 | 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 (1):
- ORPHA:238517Hypotonia-cystinuria type 1 syndrome
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAMKMT | Role in the phenotype of | Assessed | HGNC:26276 | ENSG00000143919 | 609559 | 2p21 | calmodulin-lysine N-methyltransferase | 18234729[PMID] |
| PREPL | Role in the phenotype of | Assessed | HGNC:30228 | ENSG00000138078 | 609557 | 2p21 | prolyl endopeptidase like | 18234729[PMID] |
| SLC3A1 | Role in the phenotype of | Assessed | HGNC:11025 | ENSG00000138079 | 104614 | 2p21 | solute carrier family 3 member 1 | 18234729[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 18234729[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18234729[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
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/238523
- This record as JSON: /data/d/238523.json