eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| galactose epimerase deficiency | ||||
| Disease ID | 1938 |
|---|---|
| Disease | galactose epimerase deficiency |
| Definition | Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III[1] and UDP-galactose-4-epimerase deficiency,[2] is a rare, autosomal recessive form of galactosemia associated with a deficiency of the enzyme galactose epimerase. - Wikipedia Reference: https://en.wikipedia.org/wiki/galactose epimerase deficiency |
| Synonym | defic dis udp galactose 4 epimerase defic dis udpglucose 4 epimerase deficiencies, galactose epimerase deficiencies, gale deficiencies, udp-galactose-4-epimerase deficiency disease, udp galactose 4 epimerase deficiency disease, udp-galactose-4-epimerase deficiency disease, udpglucose 4 epimerase deficiency disease, udpglucose 4-epimerase deficiency diseases, udp-galactose-4-epimerase deficiency of udpgalactose 4-epimerase deficiency of udpglucose 4-epimerase deficiency of udpglucose 4-epimerase (disorder) deficiency, galactose epimerase deficiency, gale deficiency, udp-galactose-4-epimerase epimerase deficiency galactosaemia - epimerase deficiency galactosaemia iii galactose epimerase deficiencies galactosemia - epimerase deficiency galactosemia 3 galactosemia 3s galactosemia iii galactosemia iiis gale gale deficiencies gale deficiency udp galactose 4 epimerase defic dis udp galactose 4 epimerase deficiency udp galactose 4 epimerase deficiency disease udp-galactose-4-epimerase deficiencies udp-galactose-4-epimerase deficiency udp-galactose-4-epimerase deficiency disease udp-galactose-4-epimerase deficiency diseases udpgalactose-4-epimerase deficiency udpglucose 4 epimerase defic dis udpglucose 4 epimerase deficiency disease udpglucose 4-epimerase deficiency disease udpglucose epimerase 04 deficiency disease udpglucose-4-epimerase deficiency udpglucose-4-epimerase deficiency (disorder) uridine diphosphate (udp) glucose-4-epimerase deficiency uridine diphosphate (udp) glucose-4-epimerase deficiency (disorder) uridine diphosphate galactose-4 epimerase deficiency uridine diphosphate galactose-4-epimerase deficiency uridine diphosphate glucose-4-epimerase deficiency uridine diphosphate glucose-4-epimerase deficiency (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0751161 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1938 |
|---|---|
| Disease | galactose epimerase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0001263 | Global developmental delay HP:0001744 | Splenomegaly HP:0000518 | Cataract HP:0003355 | Aminoaciduria HP:0001824 | Weight loss HP:0002017 | Nausea and vomiting HP:0004915 | Impairment of galactose metabolism HP:0001252 | Muscular hypotonia HP:0000952 | Jaundice HP:0002240 | Hepatomegaly HP:0011968 | Feeding difficulties HP:0001510 | Growth delay HP:0001249 | Intellectual disability |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1938 |
|---|---|
| Disease | galactose epimerase deficiency |
| Manually Symptom | (Waiting for update.) |
| 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:22) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908045 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23797128 | A | G |
| rs121908046 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23798907 | T | C |
| rs121908047 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23798188 | C | T |
| rs137853859 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23797718 | G | T,A |
| rs137853860 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23796777 | G | A |
| rs137853861 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23796234 | C | T |
| rs144492228 | 16301867 | 2582 | GALE | umls:C0751161 | UNIPROT | The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. | 0.241085767 | 2005 | GALE | 1 | 23798890 | G | A,T |
| rs28940882 | 16302980 | 2582 | GALE | umls:C0751161 | UNIPROT | UDP-galactose 4-epimerase (GALE, EC 5.1.3.2) catalyses the interconversion of UDP-glucose and UDP-galactose. | 0.241085767 | 2005 | GALE | 1 | 23798199 | C | T |
| rs28940882 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23798199 | C | T |
| rs28940882 | 9973283 | 2582 | GALE | umls:C0751161 | BeFree | In contrast, two GALE-variant proteins associated with peripheral epimerase deficiency, L313M-hGALE and D103G-hGALE, demonstrated near-normal levels of activity with regard to both substrates, but a third allele, G90E-hGALE, demonstrated little, if any, detectable activity, despite near-normal abundance. | 0.241085767 | 1999 | GALE | 1 | 23798199 | C | T |
| rs28940883 | 9973283 | 2582 | GALE | umls:C0751161 | BeFree | In contrast, two GALE-variant proteins associated with peripheral epimerase deficiency, L313M-hGALE and D103G-hGALE, demonstrated near-normal levels of activity with regard to both substrates, but a third allele, G90E-hGALE, demonstrated little, if any, detectable activity, despite near-normal abundance. | 0.241085767 | 1999 | GALE | 1 | 23798160 | T | C |
| rs28940883 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23798160 | T | C |
| rs28940883 | 16302980 | 2582 | GALE | umls:C0751161 | UNIPROT | UDP-galactose 4-epimerase (GALE, EC 5.1.3.2) catalyses the interconversion of UDP-glucose and UDP-galactose. | 0.241085767 | 2005 | GALE | 1 | 23798160 | T | C |
| rs28940884 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23796722 | T | C |
| rs28940884 | 15639193 | 2582 | GALE | umls:C0751161 | UNIPROT | These results are consistent with the apparently benign status of peripheral epimerase deficiency galactosemia, but leave open the question of why patients with these substitutions demonstrate GALE deficiency in their red blood cells. | 0.241085767 | 2005 | GALE | 1 | 23796722 | T | C |
| rs28940885 | 15639193 | 2582 | GALE | umls:C0751161 | UNIPROT | These results are consistent with the apparently benign status of peripheral epimerase deficiency galactosemia, but leave open the question of why patients with these substitutions demonstrate GALE deficiency in their red blood cells. | 0.241085767 | 2005 | GALE | 1 | 23796183 | C | T |
| rs28940885 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23796183 | C | T |
| rs3180383 | 16302980 | 2582 | GALE | umls:C0751161 | UNIPROT | UDP-galactose 4-epimerase (GALE, EC 5.1.3.2) catalyses the interconversion of UDP-glucose and UDP-galactose. | 0.241085767 | 2005 | GALE | 1 | 23796202 | G | A,T |
| rs3180383 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23796202 | G | A,T |
| rs3180383 | 9973283 | 2582 | GALE | umls:C0751161 | BeFree | In contrast, two GALE-variant proteins associated with peripheral epimerase deficiency, L313M-hGALE and D103G-hGALE, demonstrated near-normal levels of activity with regard to both substrates, but a third allele, G90E-hGALE, demonstrated little, if any, detectable activity, despite near-normal abundance. | 0.241085767 | 1999 | GALE | 1 | 23796202 | G | A,T |
| rs727503943 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23797815 | G | T,A |
| rs794727702 | NA | 2582 | GALE | umls:C0751161 | CLINVAR | NA | 0.241085767 | NA | GALE | 1 | 23798196 | A | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| 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:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001263 | Global developmental delay | 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:0000518 | Cataract | 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:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0011968 | Feeding difficulties | 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:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004915 | Impairment of galactose metabolism | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 1938 |
|---|---|
| Disease | galactose epimerase deficiency |
| Case | (Waiting for update.) |