Pyruvate Dehydrogenase E1-alpha Deficiency(Pyruvate decarboxylase deficiency) Explore Disorder's Alias
An X-linked recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PDHA1/5160 | pyruvate dehydrogenase E1 subunit alpha 1 | Xp22.12 | ChrX, NC_000023.11 (19343927..19361718) |
17792 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PDHX/8050 | pyruvate dehydrogenase complex component X | 11p13 | Chr11, NC_000011.10 (34915920..34996128) |
80209 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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