loading...| Preferred Name |
Galactokinase Deficiency |
|
| Synonyms |
Galactokinase Deficiency GALK Deficiency Galactosemia Type 2 |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114767 |
|
| code |
C114767 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| 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. |
|
| FULL_SYN |
Galactokinase Deficiency GALK Deficiency Galactosemia Type 2 |
|
| label |
Galactokinase Deficiency |
|
| Preferred_Name |
Galactokinase Deficiency |
|
| prefixIRI |
Thesaurus:C114767 |
|
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268155 |
|
| subClassOf |