eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| galactokinase deficiency | ||||
| Disease ID | 258 |
|---|---|
| Disease | galactokinase deficiency |
| Definition | An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life. |
| Synonym | defic dis galactokinase deficiencies, galactokinase deficiencies, galk deficiencies, hereditary galactokinase deficiency disease, galactokinase deficiency of galactokinase deficiency of galactokinase (disorder) deficiency, galactokinase deficiency, galk deficiency, hereditary galactokinase galactokinase defic dis galactokinase deficiencies galactokinase deficiencies, hereditary galactokinase deficiency disease galactokinase deficiency diseases galactokinase deficiency galactosaemia galactokinase deficiency galactosemia galactokinase deficiency galactosemia (disorder) galactokinase deficiency, hereditary galactosaemia - galactokinase deficiency galactosaemia ii galactosemia - galactokinase deficiency galactosemia 2 galactosemia 2s galactosemia ii galactosemia type 2 galk galk - galactokinase deficiency galk deficiencies galk deficiency hereditary galactokinase deficiencies hereditary galactokinase deficiency type ii galactosemia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268155 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | Symbol | Locus(Total Locus:1) GALK1 | 17q25.1 |
| Disease ID | 258 |
|---|---|
| Disease | galactokinase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0002516 | Intracranial pressure elevation HP:0000518 | Cataract HP:0012023 | Galactosuria HP:0006579 | Neonatal jaundice HP:0004915 | Impairment of galactose metabolism HP:0012024 | Hypergalactosemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 258 |
|---|---|
| Disease | galactokinase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 |
| rs104894572 | NA | 2584 | GALK1 | umls:C0268155 | CLINVAR | NA | 0.367448483 | NA | GALK1 | 17 | 75765055 | G | T |
| rs104894572 | 11978884 | 2584 | GALK1 | umls:C0268155 | BeFree | The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. | 0.367448483 | 2002 | GALK1 | 17 | 75765055 | G | T |
| rs104894576 | NA | 2584 | GALK1 | umls:C0268155 | CLINVAR | NA | 0.367448483 | NA | GALK1 | 17 | 75765043 | C | T |
| rs104894577 | NA | 2584 | GALK1 | umls:C0268155 | CLINVAR | NA | 0.367448483 | NA | GALK1 | 17 | 75764014 | C | A |
| rs111033608 | NA | 2584 | GALK1 | umls:C0268155 | CLINVAR | NA | 0.367448483 | NA | GALK1;ITGB4 | 17 | 75758091 | G | A |
| rs80084721 | NA | 2584 | GALK1 | umls:C0268155 | CLINVAR | NA | 0.367448483 | NA | GALK1 | 17 | 75763032 | G | A,T |
| rs80084721 | 11231902 | 2584 | GALK1 | umls:C0268155 | BeFree | Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the Osaka variant) associated with an A198V mutation in three infants with mild GALK deficiency. | 0.367448483 | 2001 | GALK1 | 17 | 75763032 | G | A,T |
| rs80084721 | 12694189 | 2584 | GALK1 | umls:C0268155 | UNIPROT | Functional analysis of disease-causing mutations in human galactokinase. | 0.367448483 | 2003 | GALK1 | 17 | 75763032 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006579 | Prolonged neonatal jaundice | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006579 | Prolonged neonatal jaundice | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0012023 | Galactosuria | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0012024 | Hypergalactosemia | MP:0004018 | abnormal galactose homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues |
| Disease ID | 258 |
|---|---|
| Disease | galactokinase deficiency |
| Case | (Waiting for update.) |