loading...| Preferred Name |
Deficiency of galactokinase |
|
| Synonyms |
Galactokinase deficiency galactosemia |
|
| Definitions |
A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/124302001 |
|
| Active |
1 |
|
| altLabel |
Galactokinase deficiency galactosemia Galactosaemia II Galactokinase deficiency GALK (galactokinase) deficiency Galactosemia II Deficiency of galactokinase (disorder) Galactokinase deficiency galactosaemia Galactosemia - galactokinase deficiency Galactosaemia - galactokinase deficiency |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
C3111 |
|
| cui |
C0268155 |
|
| definition |
A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| INACTIVATION INDICATOR |
723277005 |
|
| notation |
124302001 |
|
| prefLabel |
Deficiency of galactokinase |
|
| Subset member |
6011000124106~MAPTARGET~E74.29 6011000124106~MAPADVICE~ALWAYS E74.29 447562003~MAPRULE~TRUE 900000000000490003~VALUEID~723277005 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS E74.2 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~C3111 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~E74.2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/190745006 |