ORPHA:868
Triose phosphate-isomerase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Triose phosphate-isomerase deficiency | |
| fr | Déficit en triose-phosphate isomérase | |
| de | Triosephosphat-Isomerase-Mangel | |
| es | Deficiencia de triosa fosfato-isomerasa | |
| it | Deficit di trioso fosfato-isomerasi | |
| nl | Triosefosfaatisomerasedeficiëntie | |
| pt | Deficiência de triose-fosfato isomerase | |
| pl | Niedobór izomerazy triozofosforanowej | |
| cs | Deficit triozy fosfát-izomerázy | |
| uk | Дефіцит тріозафосфат-ізомерази | |
| zh | 磷酸丙糖异构酶缺乏症 | |
| tr | Trioz fosfat izomeraz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615512 | E | validated | |
| ICD-10 | D55.2 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0014221 | E | validated | |
| UMLS | C0398562 | E | validated | |
| GARD | 5287 | 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 (4):
- ORPHA:308459Disorder of glycolysis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225696Energy metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TPI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12009 | ENSG00000111669 | 190450 | 12p13.31 | triosephosphate isomerase 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 10916682[PMID]_[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0007009 | Central nervous system degeneration | |
| HP:0001252 | Hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0006597 | Diaphragmatic paralysis | |
| Occasional (29-5%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/868
- This record as JSON: /data/d/868.json