ORPHA:2224
Hypertryptophanemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertryptophanemia | |
| fr | Hypertryptophanémie familiale | |
| de | Hypertryptophanämie, familiäre | |
| es | Hipertriptofanemia familiar | |
| it | Ipertriptofanemia | |
| nl | Hypertryptofanemie | |
| pt | Hipertriptofanemia | |
| pl | Hipertrypofanemia | |
| cs | Hypertryptofanemie | |
| uk | Гіпертриптофанемія | |
| zh | 高色氨酸血症 | |
| tr | Hipertriptofanemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600627 | E | validated | |
| ICD-10 | E70.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.3 | NTBT | index | validated |
| MONDO | 0010907 | E | validated | |
| MeSH | C563467 | E | validated | |
| UMLS | C2931837 | E | validated | |
| GARD | 2871 | 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:289829Disorder of tryptophan metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TDO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11708 | ENSG00000151790 | 191070 | 4q32.1 | tryptophan 2,3-dioxygenase | 28285122[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
3 annotations · validated 2025-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0500134 | Hypertryptophanemia | |
| HP:0003144 | Increased serum serotonin | |
| HP:0003361 | Tryptophanuria | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28285122[PMID]_36188218[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2224
- This record as JSON: /data/d/2224.json