eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple acyl-coa dehydrogenase deficiency | ||||
| Disease ID | 455 |
|---|---|
| Disease | multiple acyl-coa dehydrogenase deficiency |
| Definition | An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). |
| Synonym | aciduria, ethylmalonic-adipic acidurias, ethylmalonic-adipic electron transfer flavoprotein deficiency ethylmalonic adipic aciduria ethylmalonic adipicaciduria ethylmalonic-adipic aciduria ethylmalonic-adipic acidurias ethylmalonic-adipicaciduria ga ii glutaric acidaemia, type 2 glutaric acidemia ii glutaric acidemia type 2 glutaric acidemia type ii glutaric acidemia, type 2 glutaric aciduria ii glutaric aciduria type 2 glutaric aciduria type ii glutaric aciduria, type 2 glutaric aciduria, type 2 (disorder) mad - multiple acyl-coa dehydrogenase deficiency madd madd (multiple acyl coa dehydrogenase deficiency) madd (multiple acyl-coa dehydrogenase deficiency) madds (multiple acyl-coa dehydrogenase deficiency) multiple acyl coa dehydrogenase deficiency multiple acyl coenzyme a dehydrogenase deficiency multiple acyl coenzyme a dehydrogenase deficiency [disease/finding] multiple acyl-coa dehydrogenase deficiencies multiple fad dehydrogenase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0268596 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C1145670 | respiratory failure | 1 C0026848 | myopathy | 1 C0020598 | hypoglycemia | 1 C0442874 | neuropathy | 1 C0151313 | sensory neuropathy | 1 C0796274 | brown-vialetto-van laere syndrome | 1 C0152013 | lung adenocarcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 34 | ACADM | 2.628 | DISEASES 36 | ACADSB | 3.579 | DISEASES 37 | ACADVL | 3.193 | DISEASES 501 | ALDH7A1 | 1.391 | DISEASES 51004 | COQ6 | 4.392 | DISEASES 1376 | CPT2 | 4.165 | DISEASES 1798 | DPAGT1 | 1.991 | DISEASES 2108 | ETFA | 5.622 | DISEASES 2109 | ETFB | 6.432 | DISEASES 2110 | ETFDH | 7.57 | DISEASES 2593 | GAMT | 2.504 | DISEASES 2762 | GMDS | 3.018 | DISEASES 3033 | HADH | 2.2 | DISEASES 3032 | HADHB | 2.657 | DISEASES 3155 | HMGCL | 2.873 | DISEASES 3712 | IVD | 1.76 | DISEASES 3939 | LDHA | 1.484 | DISEASES 3980 | LIG3 | 1.784 | DISEASES 5091 | PC | 2.134 | DISEASES 23590 | PDSS1 | 4.154 | DISEASES 57107 | PDSS2 | 4.199 | DISEASES 57104 | PNPLA2 | 2.711 | DISEASES 55312 | RFK | 3.742 | DISEASES 387700 | SLC16A12 | 3.807 | DISEASES 10165 | SLC25A13 | 3.079 | DISEASES 788 | SLC25A20 | 3.557 | DISEASES 8878 | SQSTM1 | 1.558 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 455 |
|---|---|
| Disease | multiple acyl-coa dehydrogenase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0002240 | Enlarged liver HP:0002089 | Hypoplastic lungs HP:0001325 | Coma caused by low blood sugar HP:0000256 | Macrocrania HP:0003490 | Defective dehydrogenation of isovaleryl CoA and butyryl CoA HP:0002098 | Respiratory distress HP:0002018 | Nausea HP:0000506 | Telecanthus HP:0000377 | Malformation of auricle HP:0002614 | Hepatic periportal necrosis HP:0001302 | Cerebral pachygyria HP:0001943 | Hypoglycemia HP:0000519 | Cataracts, lenticular, bilateral HP:0000803 | Cortical cysts HP:0001252 | Hypotonia HP:0001999 | Facial dysmorphism HP:0003219 | Ethylmalonic aciduria HP:0005280 | Flat, nasal bridge HP:0000260 | Wide anterior fontanel HP:0002909 | Generalized nonspecific aminoaciduria HP:0001324 | Muscular weakness HP:0000078 | Genital abnormalities HP:0001397 | Hepatic steatosis HP:0002171 | Cerebral gliosis HP:0003150 | Glutaric aciduria HP:0000114 | Proximal tubular defect HP:0000952 | Yellow skin HP:0003530 | Glutaric acidemia HP:0000348 | High forehead HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003076 | Glucosuria HP:0000113 | Polycystic kidney dysplasia HP:0002013 | Emesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0003198 | Myopathic changes | 1 HP:0000763 | Sensory neuropathy | 1 HP:0002878 | Respiratory failure | 1 HP:0001943 | Hypoglycemia | 1 HP:0100843 | Glioblastoma | 1 HP:0001622 | Premature delivery | 1 HP:0030078 | Lung adenocarcinoma | 1 |
| Disease ID | 455 |
|---|---|
| Disease | multiple acyl-coa dehydrogenase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894677 | 7912128 | 2109 | ETFB | umls:C0268596 | UNIPROT | Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. | 0.241085767 | 1994 | ETFB | 19 | 51347006 | C | T |
| rs121964954 | 22013910 | 2110 | ETFDH | umls:C0268596 | BeFree | High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr) from a patient with MADD. | 0.246981544 | 2011 | ETFDH | 4 | 158682269 | G | A |
| rs377686388 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158699015 | T | C |
| rs398124151 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158703540 | G | T |
| rs398124152 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158706270 | C | T |
| rs398124153 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158708496 | G | - |
| rs727503919 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158706730 | CT | - |
| rs796051964 | NA | 2110 | ETFDH | umls:C0268596 | CLINVAR | NA | 0.246981544 | NA | ETFDH | 4 | 158680483 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003219 | Ethylmalonic aciduria | MP:0010028 | aciduria | excretion of an acid urine |
| HP:0000803 | Renal cortical cysts | MP:0011682 | renal glomerulus cysts | abnormal membranous sacs in any portion of the renal glomerulus |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0000519 | Congenital cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| HP:0000078 | Abnormality of the genital system | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0002098 | Respiratory distress | MP:0001954 | respiratory distress | physical difficulty or inability to breathe; shortness of breath |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000260 | Wide anterior fontanel | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0002089 | Pulmonary hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0000377 | Abnormality of the pinna | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003219 | Ethylmalonic aciduria | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0003150 | Glutaric aciduria | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0001302 | Pachygyria | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002098 | Respiratory distress | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000506 | Telecanthus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002171 | Gliosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003076 | Glycosuria | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000114 | Proximal tubulopathy | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002909 | Generalized aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002018 | Nausea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000078 | Abnormality of the genital system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000377 | Abnormality of the pinna | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000803 | Renal cortical cysts | MP:0013214 | decreased embryonic neuroepithelium primary cilium number | reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and n |
| HP:0000260 | Wide anterior fontanel | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000519 | Congenital cataract | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003530 | Glutaric acidemia | MP:0003068 | enlarged kidney | larger than average size of the kidney |
| HP:0001325 | Hypoglycemic coma | MP:0011940 | decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| Disease ID | 455 |
|---|---|
| Disease | multiple acyl-coa dehydrogenase deficiency |
| Case | (Waiting for update.) |