Hypotonia-cystinuria syndrome
Synonyms: HCS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotonia-cystinuria syndrome | HCS |
| fr | Syndrome d'hypotonie-cystinurie | |
| de | Hypotonie-Cystinurie-Syndrom | |
| es | Síndrome de hipotonía-cistinuria | = en |
| it | Sindrome ipotonia-cistinuria | = en |
| nl | Hypotonie - cystinurie-syndroom | = en |
| pt | Síndrome hipotonia - cistinúria | |
| pl | Zespół hipotonia - cystynuria | = en |
| cs | Syndrom zahrnující hypotonii a cystinurii | = en |
| uk | Синдром гіпотонії-цистинурії | = en |
| zh | 肌张力低下-胱氨酸尿症综合征 | = en |
| tr | Hipotoni-sistinüri sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606407 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0011669 | E | validated | |
| MeSH | C564710 | E | validated | |
| UMLS | C1848030 | E | validated | |
| MedDRA | 10083099 | 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 (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.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PREPL | Role in the phenotype of | Assessed | HGNC:30228 | ENSG00000138078 | 609557 | 2p21 | prolyl endopeptidase like | 16385448[PMID] |
| SLC3A1 | Role in the phenotype of | Assessed | HGNC:11025 | ENSG00000138079 | 104614 | 2p21 | solute carrier family 3 member 1 | 16385448[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 23794250[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003131 | Cystinuria | |
| HP:0001558 | Decreased fetal movement | |
| HP:0000268 | Dolichocephaly | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0001611 | Hypernasal speech | |
| HP:0001252 | Hypotonia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002591 | Polyphagia | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0000286 | Epicanthus | |
| HP:0012378 | Fatigue | |
| HP:0002007 | Frontal bossing | |
| HP:0000278 | Retrognathia | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163690
- This record as JSON: /data/d/163690.json