Details of PDHA1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PDHA1 | PHE1A | P08559 | ODPA_HUMAN | 5160
| B7Z3X5
| Q53H41 | Q9UBU0 |
Disease |
|---|
| Disease |
OMIM id |
| Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry. |
312170 |
X-linked Leigh syndrome (X-LS) [MIM:308930]: Early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal |
including the brainstem |
Phenotypes
"Apneic episodes precipitated by illness, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormal muscle tone, Abnormal shape of the frontal region, Abnormality of acid-base homeostasis, Abnormality of alanine metabolism, Abnormality of amino acid metabolism, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of carboxylic acid metabolism, Abnormality of cell physiology, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of pyruvate family amino acid metabolism, Abnormality of serum amino acid levels, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the basal ganglia, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebral white matter, Abnormality of the cerebrospinal fluid, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the glial cells, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the mitochondrion, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nasal alae, Abnormality of the nasal bridge, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the philtrum, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Acidosis, Age of onset, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Apnea, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Basal ganglia cysts, Cerebral atrophy, Chorea, Choreoathetosis, Chronic lactic acidosis, Cognitive impairment, Decreased activity of the pyruvate dehydrogenase (PDH) complex, Decreased body weight, Diminished movement, Dysplastic corpus callosum, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Functional respiratory abnormality, Gliosis, Global developmental delay, Gonosomal inheritance, Growth abnormality, Hyperalaninemia, Hypertonia, Hypokinesia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Intracranial cystic lesion, Involuntary movements, Lactic acidosis, Lethargy, Long philtrum, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Neurodegeneration, Nystagmus, Onset, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Ptosis, Reduced consciousness/confusion, Respiratory difficulties, Seizures, Severe lactic acidosis, Small for gestational age, Spasticity, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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