| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
24613099 |
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations. Polinati PP, Valanne L, Tyni T. Brain Dev. 2015;37(1):107-13. |
| Rheumatoid arthritis | ||
| MLYCD | ||
| c|SUB|C|454|A c|SUB|T|22|A p|SUB|M|1|K | ||
| Age of Onset Base Sequence Carboxy-Lyases Child Child, Preschool DNA Mutational Analysis Females Homo sapiens Immunohistochemistry Inborn Errors of Metabolism Infant Malonyl Coenzyme A Methylmalonic Acid Molecular Sequence Data Mutation Polymerase Chain Reaction Western Blotting | ||
| 2 (4.0%) |
26858006 |
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features. Liu H, Tan D, Han L, Ye J, Qiu W, Gu X, Zhang H. Am J Med Genet A. 2016;170A(5):1347-51. |
| Cardiomyopathy | ||
| MLYCD | ||
| c|SUB|G|911|A p|SUB|G|304|E | ||
| Acidosis Base Sequence Carboxy-Lyases Cardiomyopathies Child Chromosomes Exons Females Homo sapiens Inborn Errors of Metabolism Malonates Malonyl Coenzyme A Methylmalonic Acid Microarray Analysis Sequence Deletion | ||
| 2 (4.0%) |
26664991 (4672276) |
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog. Biegen VR, McCue JP, Donovan TA, Shelton GD. Front Vet Sci. 2015;2:64. |
| Encephalopathy | ||
| 2 (4.0%) |
26167218 (4489058) |
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria. Murgai A, Deshmukh A, Puri V, Chaudhry N, Kapoor S. J Pediatr Neurosci. 2015;10(2):140-2. |
| Myoclonus | ||
| 2 (4.0%) |
25233985 |
Malonic aciduria: long-term follow-up of new patients detected by newborn screening. Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T. Eur J Pediatr. 2014;173(12):1719-22. |
| Cardiomyopathy | ||
| Carboxy-Lyases Child Differential Diagnosis Females Follow-Up Studies Homo sapiens Inborn Errors of Metabolism Infant Infant, Newborn Male Malonyl Coenzyme A Methylmalonic Acid Neonatal Screening Sibling Time Factors | ||
| 2 (4.0%) |
22104738 |
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L. Mol Genet Metab. 2012;105(1):79-83. |
| Short stature | ||
| MLYCD | ||
| c|SUB|T|920|G p|SUB|L|307|R rs77493891 | ||
| Asians Base Sequence Carboxy-Lyases Child, Preschool China DNA Mutational Analysis Heterozygote Homo sapiens Inborn Errors of Metabolism Infant Infant, Newborn Male Malonyl Coenzyme A Metabolic Networks and Pathways Methylmalonic Acid Molecular Sequence Data Mutation | ||
| 2 (4.0%) |
20549361 |
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA. J Inherit Metab Dis. 2010;33 Suppl 3:S253-6. |
| Seizure | ||
| ACE MLYCD | ||
| Angiotensin-Converting Enzyme Inhibitors Carboxy-Lyases Cardiomyopathies Child, Preschool Combined Modality Therapy Dietary Supplements Females Genetic Predisposition to Disease Homo sapiens Inborn Errors of Metabolism Infant Infant, Newborn Malonyl Coenzyme A Methylmalonic Acid Mutation Phenotype Triglycerides | ||
| 2 (4.0%) |
17186413 |
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. J Inherit Metab Dis. 2007;30(1):23-8. |
| Seizure | ||
| c|DEL|481|C c|DEL|799-1683_949-1293|3128 c|SUB|A|1367|C c|SUB|C|1430|T c|SUB|C|796|T c|SUB|G|1319|T c|SUB|G|899|T;RS#:768932836 p|SUB|G|300|V;RS#:768932836 p|SUB|Q|266|X p|SUB|S|440|I p|SUB|S|477|F p|SUB|Y|456|S | ||
| Biological Models Carboxy-Lyases Child Child, Preschool Exons Females Gene Deletion Homo sapiens Inborn Errors of Metabolism Infant Male Malonates Models, Genetic Mutation Phenotype Polymerase Chain Reaction | ||
| 2 (4.0%) |
16275149 |
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. Mol Genet Metab. 2006;87(2):102-6. |
| Pachygyria | ||
| MLYCD | ||
| Brain Brain Diseases, Metabolic Brain Stem Carboxy-Lyases Cerebellum Child, Preschool Cultured Cells DNA Mutational Analysis Eating Females Fibroblasts Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Middle Aged Skin | ||
| 2 (4.0%) |
16078122 |
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. Ficicioglu C, Chrisant MR, Payan I, Chace DH. Pediatr Cardiol. 2005;26(6):881-3. |
| Cardiomyopathy | ||
| MLYCD | ||
| Angiotensin-Converting Enzyme Inhibitors Carboxy-Lyases Cardiomyopathies Cardiotonic Agents Homo sapiens Inborn Errors of Metabolism Infant Infant, Newborn Male Neonatal Screening |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001638 | Cardiomyopathy | 5 |
| HP:0001250 | Seizures | 2 |
| HP:0001336 | Myoclonus | 1 |
| HP:0001941 | Acidosis | 1 |
| HP:0001942 | Metabolic acidosis | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002069 | Generalized tonic-clonic seizures | 1 |
| HP:0002919 | Ketonuria | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0012072 | Aciduria | 1 |