ORPHA:255138
Pyruvate dehydrogenase E1-beta deficiency
Synonyms: PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate dehydrogenase E1-beta deficiency | PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency |
| fr | Déficit en pyruvate déshydrogénase E1-bêta | Déficit en sous-unité E1 bêta du complexe pyruvate déshydrogénase · PDHBD |
| de | Pyruvat-Dehydrogenase E1-beta-Mangel | PDHBD |
| es | Deficiencia de piruvato deshidrogenasa E1-beta | Deficiencia de subunidad E1 beta del complejo piruvato deshidrogenasa · PDHBD |
| it | Deficit di E1-beta della piruvato deidrogenasi | Deficit della subunità beta della componente E1 del complesso della piruvato deidrogenasi · PDHBD |
| nl | Pyruvaatdehydrogenase E1-bèta-deficiëntie | Deficiëntie van component E1-bèta van het pyruvaatdehydrogenasecomplex · PDHBD |
| pt | Deficiência da subunidade beta do componente E1 do complexo piruvato desidrogenase | |
| pl | Niedobór dehydrogenazy pirogronianowej E1-beta | Niedobór składnika podjednostki beta kompleksu E1 dehydrogenzay pirogronianowej · PDHBD |
| cs | Deficit E1-beta pyruvát dehydrogenázy | PDHBD · Deficit beta podjednotky E1 komponenty pyruvátdehydrogenázového komplexu |
| uk | Дефіцит піруватдегідрогенази Е1-бета | PDHBD · Дефіцит бета-субодиниці комплексу піруватдегідрогенази Е1 |
| zh | 丙酮酸脱氢酶E1-β缺乏症 | 丙酮酸脱氢酶复合物E1-β亚单位缺乏症 |
| tr | Piruvat dehidrojenaz E1-beta eksikliği | PDHBD · Piruvat dehidrojenaz kompleksi E1 bileşeni alt birim beta eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614111 | E | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.02 | NTBT | index | validated |
| MONDO | 0013580 | E | validated | |
| MeSH | C566729 | E | validated | |
| UMLS | C3279841 | 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 |
|---|---|---|---|---|---|---|---|---|
| PDHB | Disease-causing germline mutation(s) in | Assessed | HGNC:8808 | ENSG00000168291 | 179060 | 3p14.3 | pyruvate dehydrogenase E1 subunit beta | 15138885[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
23 annotations · validated 2020-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0004325 | Decreased body weight | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0012758 | Neurodevelopmental delay | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007016 | Corticospinal tract hypoplasia | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001302 | Pachygyria | |
| HP:0007109 | Periventricular cysts | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001250 | Seizure | |
| HP:0200012 | Short corpus callosum | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 26865159[PMID]_18164639[PMID]_15138885[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/255138
- This record as JSON: /data/d/255138.json