loading...| Preferred Name |
Galactokinase deficiency |
|
| Synonyms |
Galactokinase deficiency galactosemia |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_79237 |
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| alternative_term |
Galactokinase deficiency galactosemia GALK deficiency GALK-D Galactosemia type 2 |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0268155 ICD-11:5C51.41 ICD-10:E74.2 OMIM:230200 |
|
| label |
Galactokinase deficiency |
|
| notation |
ORPHA:79237 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_79237 |
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| prefLabel |
Galactokinase deficiency |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |