ORPHA:79246
Pyruvate dehydrogenase phosphatase deficiency
Synonyms: PDH phosphatase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase phosphatase deficiency | PDH phosphatase deficiency |
| fr | Déficit en phosphatase du complexe pyruvate déshydrogénase | Déficit en PDH phosphatase |
| de | Pyruvat-Dehydrogenase-Phosphatase-Mangel | PDH Phosphatase-Mangel |
| es | Deficiencia de piruvato deshidrogenasa fosfatasa | Deficiencia de PDH fosfatasa |
| it | Deficit della piruvato deidrogenasi fosfatasi | Deficit della PDH fosfatasi |
| nl | Pyruvaatdehydrogenasefosfatasedeficiëntie | PDH-fosfatasedeficiëntie · PDHPD |
| pt | Deficiência de piruvato desidrogenase fosfatase | |
| pl | Niedobór fosfatazy dehydrogenazy pirogronianowej | Niedobór fosfatazy PDH |
| cs | Deficit pyruvátdehydrogenáza-fosfatázy | Deficit PDH-fosfatázy |
| uk | Дефіцит фосфатази піруватдегідрогенази | Дефіцит PDH фосфатази |
| zh | 丙酮酸脱氢酶磷酸酶缺陷症 | PDH磷酸酶缺乏 |
| tr | Pirüvat dehidrojenaz fosfataz eksikliği | PDH fosfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608782 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0012120 | E | validated | |
| MeSH | C536258 | E | validated | |
| UMLS | C1837429 | E | validated | |
| GARD | 9888 | 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:765Pyruvate dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9279 | ENSG00000164951 | 605993 | 8q22.1 | pyruvate dehydrogenase phosphatase catalytic subunit 1 | 15855260[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
11 annotations · validated 2020-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0040328 | Focal hyperintensity of cerebral white matter on MRI | |
| HP:0003348 | Hyperalaninemia | |
| HP:0008358 | Hyperprolinemia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0003648 | Lacticaciduria | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001319 | Neonatal hypotonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15855260[PMID]_ 19184109[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79246
- This record as JSON: /data/d/79246.json