loading...| Preferred Name |
Galactosemias |
|
| Synonyms |
Epimerase Deficiency Galactosemias |
|
| Definitions |
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005693 |
|
| altLabel |
Epimerase Deficiency Galactosemias Epimerase Deficiency Galactosemia Galactokinase Deficiency Deficiency Disease, UDPglucose 4-Epimerase Galactose Epimerase Deficiencies Deficiencies, GALK Uridylyltransferase Deficiencies, Galactose-1-Phosphate Classic Galactosemias Galactosemia 2 Galactose-1-Phosphate Uridyltransferase Deficiencies Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency, GALK Deficiencies, Galactose Epimerase Deficiency, Hereditary Galactokinase Deficiency Galactosemias, Epimerase Deficiencies, Galactose-1-Phosphate Uridylyltransferase Deficiency, Galactose-1-Phosphate Uridyltransferase Deficiencies, Hereditary Galactokinase Deficiency, GALE Deficiency Galactosemia, Epimerase Deficiencies, GALT Galactosemia III Deficiency Diseases, UDP-Galactose-4-Epimerase Galactosemia 3 Deficiency, GALT Galactose 1 Phosphate Uridyltransferase Deficiency Deficiency Disease, Galactokinase UDP-Galactose-4-Epimerase Deficiency Deficiency Disease, UDP Galactose 4 Epimerase Galactose-1-Phosphate Uridylyltransferase Deficiencies UDP Galactose 4 Epimerase Deficiency UDPglucose 4 Epimerase Deficiency Disease Galactosemias, Classic UDP-Galactose-4-Epimerase Deficiency Diseases Deficiencies, Galactokinase Galactose-1-Phosphate Uridyltransferase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactosemia, Classic Galactosemia 3s Galactose 1 Phosphate Uridyl Transferase Deficiency Disease Deficiency, UDP-Galactose-4-Epimerase Deficiency, Galactokinase Deficiencies, Galactose-1-Phosphate Uridyltransferase Galactokinase Deficiency Disease Galactosemia, Epimerase Deficiency Galactosemias, Epimerase Deficiency Hereditary Galactokinase Deficiencies Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase Hereditary Galactokinase Deficiency GALK Deficiency GALE Deficiency Galactosemia 2s Galactosemia IIIs GALK Deficiencies UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency Uridylyltransferase Deficiency, Galactose-1-Phosphate Deficiency Disease, UDP-Galactose-4-Epimerase UDP-Galactose-4-Epimerase Deficiency Disease Galactokinase Deficiencies, Hereditary UTP Hexose-1-Phosphate Uridylyltransferase Deficiency Deficiency, Galactose-1-Phosphate Uridylyltransferase UDP Galactose 4 Epimerase Deficiency Disease Galactokinase Deficiency Diseases Uridyltransferase Deficiency, Galactose-1-Phosphate Classic Galactosemia UTP Hexose 1 Phosphate Uridylyltransferase Deficiency UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease Deficiency, Galactose Epimerase Uridyltransferase Deficiencies, Galactose-1-Phosphate Deficiencies, GALE GALE Deficiencies Deficiencies, UDP-Galactose-4-Epimerase Galactose 1 Phosphate Uridylyltransferase Deficiency GALT Deficiency Deficiency Disease, UDPglucose 4 Epimerase Galactokinase Deficiency, Hereditary UDPglucose 4-Epimerase Deficiency Disease Galactose Epimerase Deficiency Galactosemia GALT Deficiencies Galactokinase Deficiencies UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridylyltransferase Deficiency UDP-Galactose-4-Epimerase Deficiencies UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268151 C0016952 C0751161 C0268155 |
|
| DC |
1 |
|
| definition |
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) |
|
| DX |
20000101 |
|
| FX |
D005694 D006599 D014534 D005686 D005690 |
|
| HN |
2000(1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D006599 http://purl.bioontology.org/ontology/MESH/D014534 http://purl.bioontology.org/ontology/MESH/D005690 |
|
| Machine permutation |
2000; see GALACTOSEMIA 1966-1999 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C16.320.565.189.320 C18.452.132.100.320 C18.452.648.202.355 C10.228.140.163.100.320 C16.320.565.202.355 C18.452.648.189.320 |
|
| notation |
D005693 |
|
| prefLabel |
Galactosemias |
|
| TERMUI |
T841473 T368276 T364725 T843908 T368277 T737923 T817365 T368282 T817364 T368279 T753218 T735943 T817363 T817368 T368281 T769838 T812174 T368280 T769837 T841472 T368273 T368278 T368275 T812173 T817366 T817367 T752827 T368272 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2010) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |