| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (75.3%) |
9141261 |
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies. Saijo H, Tanaka H, Ito J, Tasaki T, Cho K, Tokumitsu A, Takahashi S, Miyamoto A, Oki J. Acta Paediatr Jpn. 1997;39(2):230-2. |
| Long philtrum Upslanted palpebral fissure Small hand | ||
| PDP1 | ||
| Females Homo sapiens Infant Pyruvate Dehydrogenase Complex Deficiency Disease | ||
| 2 (39.0%) |
27896109 (5121365) |
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Mol Genet Metab Rep. 2014;1:362-367. |
| Congenital microcephaly | ||
| PDHA1 | ||
| rs137853252 rs1555934336 rs1555934376 rs1555934843 rs606231189 rs863224148 | ||
| 2 (39.0%) |
26865159 |
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerriere A. J Neuropathol Exp Neurol. 2016;75(3):227-38. |
| Microcephaly | ||
| PDHA1 PDHB PDP1 | ||
| rs137853252 | ||
| Adult Females Fetal Diseases Fetus Homo sapiens Magnetic Resonance Imaging Mutation Phenotype Pregnancy Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex Deficiency Disease Ultrasonography, Prenatal | ||
| 2 (39.0%) |
15944905 |
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. van Straaten HL, van Tintelen JP, Trijbels JM, van den Heuvel LP, Troost D, Rozemuller JM, Duran M, de Vries LS, Schuelke M, Barth PG. Neuropediatrics. 2005;36(3):193-9. |
| Microcephaly | ||
| Acidosis, Lactic Brain Cytochrome-c Oxidase Deficiency Electron Transport Complex I Fatal Outcome Females Homo sapiens Infant, Newborn Male | ||
| 2 (39.0%) |
10486093 |
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L. Eur J Pediatr. 1999;158(10):853-7. |
| Microcephaly | ||
| p|SUB|R|288|H rs137853258 rs1555935690 | ||
| Acidosis, Lactic Cerebral Palsy DNA Mutational Analysis Differential Diagnosis Females Homo sapiens Hypocalcemia Microcephaly Mutation Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex Pyruvate Dehydrogenase Complex Deficiency Disease Quadriplegia Western Blotting X Chromosome | ||
| 2 (39.0%) |
8983728 |
[Pyruvate dehydrogenase deficiency and cerebral malformations]. Eiris J, Alvarez-Moreno A, Briones P, Alonso-Alonso C, Castro-Gago M. Rev Neurol. 1996;24(134):1272-5. |
| Microcephaly | ||
| PDP1 | ||
| Brain Child, Preschool Exons Females Fibroblasts Homo sapiens Infant Magnetic Resonance Imaging Pyruvate Dehydrogenase Complex Pyruvate Dehydrogenase Complex Deficiency Disease | ||
| 7 (26.3%) |
8352855 |
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, Vamos E, Gerlo E, Liebaers I. Pediatr Neurol. 1993;9(3):216-20. |
| High forehead | ||
| PDP1 | ||
| Brain Chromosome Mapping Electron Microscopy Females Homo sapiens Infant, Newborn Lactates Liver Magnetic Resonance Imaging Muscle Tissue Neurologic Examination Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex Pyruvate Dehydrogenase Complex Deficiency Disease Pyruvates | ||
| 8 (17.5%) |
30304514 |
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Hum Mol Genet. 2019;28(2):290-306. |
| Intellectual disability Muscle weakness | ||
| c|SUB|C|2282|T;RS#:373182816 p|SUB|P|761|L;RS#:373182816 | ||
| ATP-Dependent Proteases Alleles Cerebellar Diseases DNA, Mitochondrial Homo sapiens Homozygote Infant, Newborn Lactates Male Mitochondrial Proteins Mutation Neurodegenerative Disorders Phosphorylation Protein Subunits Proteolysis Pyruvate Dehydrogenase Complex Deficiency Disease | ||
| 8 (17.5%) |
30098254 |
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency]. Zhang K, Li H, Li X, Liu Y, Gai Z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(4):548-552. |
| Muscle weakness | ||
| c|SUB|G|1133|A;RS#:137853250(Expired) p|SUB|R|378|H;RS#:137853250(Expired) | ||
| Brain Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Missense Mutation Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex Deficiency Disease | ||
| 8 (17.5%) |
28262162 |
Schizophrenia-like symptoms in a patient with Leigh syndrome. Satogami K, Takahashi S, Kose A, Shinosaki K. Asian J Psychiatr. 2017;25:249-250. |
| Delusions Progressive muscle weakness | ||
| Homo sapiens Leigh Disease Male Psychotic Disorders Schizophrenia |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001254 | Lethargy | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000496 | Abnormality of eye movement | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001266 | Choreoathetosis | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002789 | Tachypnea | Frequent (79-30%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0100453 | Osteolytic defects of the middle phalanx of the 4th toe | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000243 | Trigonocephaly | Occasional (29-5%) |
| HP:0000275 | Narrow face | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0001012 | Multiple lipomas | Occasional (29-5%) |
| HP:0001332 | Dystonia | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002094 | Dyspnea | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0100021 | Cerebral palsy | Occasional (29-5%) |
Total: 26
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003128 | Lactic acidosis | 9 |
| HP:0001332 | Dystonia | 4 |
| HP:0001251 | Ataxia | 3 |
| HP:0004902 | Congenital lactic acidosis | 3 |
| HP:0001138 | Optic neuropathy | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001290 | Generalized hypotonia | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001941 | Acidosis | 1 |
| HP:0001953 | Diabetic ketoacidosis | 1 |
| HP:0001987 | Hyperammonemia | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002180 | Neurodegeneration | 1 |
| HP:0002304 | Akinesia | 1 |
| HP:0002329 | Drowsiness | 1 |
| HP:0002578 | Gastroparesis | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0004900 | Severe lactic acidosis | 1 |
| HP:0006976 | Necrotizing encephalopathy | 1 |
| HP:0007110 | Central hypoventilation | 1 |
| HP:0008288 | Nonketotic hyperglycinemia | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0031273 | Shock | 1 |
| HP:0100021 | Cerebral palsy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|