ORPHA:101028
Transaldolase deficiency
Synonyms: TALDO deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transaldolase deficiency | TALDO deficiency |
| fr | Déficit en transaldolase | Déficit en TALDO |
| de | Transaldolase-Mangel | TALDO-Mangel |
| es | Deficiencia de transaldolasa | Deficiencia de TALDO |
| it | Deficit di transaldolasi | TALDO |
| nl | Transaldolasedeficiëntie | TALDO-deficiëntie |
| pt | Deficiência de transaldolase | |
| pl | Niedobór transaldolazy | Niedobór TALDO |
| cs | Deficit transaldolázy | TALDO |
| uk | Дефіцит трансальдолази | Дефіцит TALDO |
| zh | 转醛醇酶缺乏症 | 转醛醇酶缺缺陷病 |
| tr | Transaldolaz eksikliği | TALDO eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606003 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.0 | NTBT | index | validated |
| MONDO | 0011624 | E | validated | |
| MeSH | C563207 | E | validated | |
| UMLS | C1291329 | E | validated | |
| GARD | 10445 | 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:79186Disorder of pentose phosphate metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TALDO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11559 | ENSG00000177156 | 602063 | 11p15.5 | transaldolase 1 | 23315216[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 23315216[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23315216[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
18 annotations · validated 2016-12-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010903 | Abnormality of glutamine metabolism | |
| HP:0001903 | Anemia | |
| HP:0001394 | Cirrhosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0012202 | Increased serum bile acid concentration | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000056 | Abnormality of the clitoris | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000969 | Edema | |
| HP:0001789 | Hydrops fetalis | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0001009 | Telangiectasia | |
| Occasional (29-5%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0001631 | Atrial septal defect | |
| HP:0200128 | Biventricular hypertrophy | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001263 | Global developmental delay | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 11283793[PMID]_23315216[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101028
- This record as JSON: /data/d/101028.json