eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glutaryl-coa dehydrogenase deficiency | ||||
| Disease ID | 1084 |
|---|---|
| Disease | glutaryl-coa dehydrogenase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:28) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434366 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896940 | T | C |
| rs121434367 | 8900227 | 2639 | GCDH | umls:C0268595 | BeFree | Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. | 0.488143256 | 1996 | GCDH;SYCE2 | 19 | 12899486 | C | T |
| rs121434368 | 15248096 | 2639 | GCDH | umls:C0268595 | BeFree | The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. | 0.488143256 | 2004 | GCDH;SYCE2 | 19 | 12899471 | C | T |
| rs121434369 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897824 | C | T |
| rs121434370 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897713 | G | A |
| rs121434371 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896934 | G | A,T |
| rs121434372 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897818 | G | A |
| rs121434373 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896249 | G | A,C |
| rs139851890 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12893564 | C | T |
| rs141437721 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897833 | A | G |
| rs142967670 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12891965 | C | T |
| rs147611168 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897860 | G | A |
| rs149120354 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896058 | T | C |
| rs150938052 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897767 | C | T |
| rs151201155 | 9711871 | 2639 | GCDH | umls:C0268595 | UNIPROT | Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. | 0.488143256 | 1998 | GCDH;SYCE2 | 19 | 12899485 | G | A |
| rs372983141 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897788 | G | C |
| rs398123194 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896028 | A | G |
| rs398123195 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896204 | G | A |
| rs755586631 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12893531 | G | A |
| rs766518430 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896338 | C | T |
| rs768925619 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897406 | G | A |
| rs776082304 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897859 | C | A,T |
| rs777201305 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12893630 | G | A |
| rs786204626 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12897825 | G | A |
| rs786204627 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896019 | G | A |
| rs786204639 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12891975 | G | A |
| rs786205861 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896913 | C | T |
| rs786205862 | NA | 2639 | GCDH | umls:C0268595 | CLINVAR | NA | 0.488143256 | NA | GCDH | 19 | 12896244 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| 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:0008046 | Abnormality of the retinal vasculature | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| HP:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
| HP:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| 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:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0002047 | Malignant hyperthermia | 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 |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| 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:0008046 | Abnormality of the retinal vasculature | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0001250 | Seizures | 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:0001259 | Coma | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001298 | Encephalopathy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002301 | Hemiplegia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002047 | Malignant hyperthermia | 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:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001266 | Choreoathetosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002376 | Developmental regression | 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:0008872 | Feeding difficulties in infancy | 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:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000496 | Abnormality of eye movement | 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:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100660 | Dyskinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1084 |
|---|---|
| Disease | glutaryl-coa dehydrogenase deficiency |
| Case | (Waiting for update.) |