Histidinuria-renal tubular defect syndrome
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Histidinuria-renal tubular defect syndrome | |
| fr | Histidinurie rénale | |
| de | Histidinurie-Nierentubulusdefekt-Syndrom | |
| es | Síndrome de histidinuria-defecto tubular renal | |
| it | Sindrome istidinuria-difetto dei tubuli renali | |
| nl | Histidinurie - defect van niertubulus-syndroom | |
| pt | Síndrome de histidinúria-defeito tubular renal | |
| pl | Histydynuria - wada kanalików nerkowych | |
| cs | Syndrom zahrnující histidinurii a renální tubulární poškození | |
| uk | Синдром гістидинурії-канальцевого дефекту нирок | |
| zh | 组氨酸尿-肾小管缺陷综合征 | |
| tr | Histidinüri-renal tübüler defekt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235830 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.2Y | NTBT | attributed | validated |
| MONDO | 0009346 | E | validated | |
| MeSH | C538321 | E | validated | |
| UMLS | C0268642 | E | validated | |
| GARD | 2708 | 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:79181Disorder of histidine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 1481808[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1481808[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:0002120 | Cerebral cortical atrophy | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002927 | Histidinuria | |
| HP:0001943 | Hypoglycemia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0008666 | Impaired histidine renal tubular absorption | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0005844 | Rounded middle phalanx of finger | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2158
- This record as JSON: /data/d/2158.json