MCID: GLC006
MIFTS: 74

Galactosemia malady

Gastrointestinal, Eye, Liver, Nephrological, Reproductive, Metabolic, Endocrine categories

Summaries for Galactosemia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 Galactokinase deficiency, or galactosemia type 2, is a type of galactosemia that affects how the body processes a simple sugar called galactose.  a small amount of galactose is present in many foods. it is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. the signs and symptoms of galactosemia result from an inability to use galactose to produce energy. galactokinase deficiency causes fewer medical problems than the classic type. affected infants usually develop cataracts, but otherwise experience few long-term complications. this condition is caused by mutations in the galk1 gene and is inherited in an autosomal recessive fashion. last updated: 6/9/2011

MalaCards: Galactosemia, also known as galactokinase deficiency disease, is related to epimerase deficiency galactosemia and phenylketonuria, and has symptoms including autosomal recessive inheritance, nausea/vomiting/regurgitation/merycism/hyperemesis and motor deficit/trouble. An important gene associated with Galactosemia is GALT (galactose-1-phosphate uridylyltransferase), and among its related pathways are galactose degradation I (Leloir pathway) and FOXA2 and FOXA3 transcription factor networks. The drugs medium chain triglycerides and alglucerase and the compounds gluconate and uridine diphosphate have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and behavior/neurological.

Disease Ontology:8 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

Genetics Home Reference:21 Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

MedlinePlus:34 Your liver is the largest organ inside your body. it helps your body digest food, store energy, and remove poisons. there are many kinds of liver diseases. viruses cause some of them, like hepatitis a, hepatitis b and hepatitis c. others can be the result of drugs, poisons or drinking too much alcohol. if the liver forms scar tissue because of an illness, it's called cirrhosis. jaundice, or yellowing of the skin, can be one sign of liver disease. cancer can affect the liver. you could also inherit a liver disease such as hemochromatosis.

Wikipedia:64 Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Description from OMIM:47 230400,230350,230200

GeneReviews summary for galactosemia

Aliases & Classifications for Galactosemia

Sources:
43NIH Rare Diseases, 10DISEASES, 45Novoseek, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 34MedlinePlus, 57SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
galactosemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
galt deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

galactosemia 8 9 64 19 43 20 22 21 47 10 49
galactokinase deficiency disease 64 20 22 21 61
galt deficiency 64 19 43 21 49
classic galactosemia 64 19 21 49
liver diseases 64 45 34 61
galactose-1-phosphate uridyltransferase deficiency 19 43 49
galactokinase deficiency 43 10 45
galactose-1-phosphate uridyl-transferase deficiency disease 64 21
utp hexose-1-phosphate uridylyltransferase deficiency 64 21
udp-galactose-4-epimerase deficiency disease 64 21
udpglucose 4-epimerase deficiency disease 21 61
classical galactosemia 45 61
liver dysfunction 45 61
liver failure 45 61
deficiency of udpglucose-hexose-1-phosphate uridylyltransferase 22
udp glucose hexose-1-phosphate uridylyltransferase deficiency 64
udpglucose hexose-1-phosphate uridylyltransferase deficiency 21
udp glucose 4-epimerase deficiency disease 64
hereditary galactokinase deficiency 43
epimerase deficiency galactosemia 21
udpglucose-4-epimerase deficiency 22
galactose epimerase deficiency 21
deficiency of galactokinase 61
galactose intolerance 8
galactosemia, classic 43
galactosemia type 1 49
galk deficiency 43
galactosemia 2 43
galactosaemia 8
liver disease 10


External Ids:

Disease Ontology8 DOID:9870
ICD9CM27 271.1
MeSH35 D005693
NCIt40 C84723
MESH via Orphanet36 D005693
ICD10 via Orphanet26 E74.2
SNOMED-CT via Orphanet58 190745006
UMLS via Orphanet62 C0016952

Related Diseases for Galactosemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Galactosemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 564)
idRelated DiseaseScoreTop Affiliating Genes
1epimerase deficiency galactosemia30.9GALT, GALK1, GALE
2phenylketonuria30.5G6PD, BTD, OTC, ACADM
3wilson disease30.3OTC, G6PD, G6PC
4fanconi bickel syndrome30.3G6PC, SLC2A2
5brain disease30.3BTD, SLC25A13, OTC, ACADM
6galactokinase deficiency30.2GALK1, GALT
7premature ovarian failure30.2GDF9, GALT
8mental retardation30.1AGA, BTD, OTC
9biliary atresia30.1SLC25A13, OTC
10homocystinuria30.1OTC, BTD, G6PD
11congenital hypothyroidism30.1G6PD, BTD, ACADM
12citrin deficiency29.8SLC25A13
13hypoglycemia29.8G6PC, AKR1B1, BTD, SLC25A13, SLC2A2, ACADM
14blindness29.7AKR1B1
15citrullinemia29.7SLC25A13, OTC
16reye syndrome29.7ACADM, OTC
17fatty liver disease11.3
18polycystic liver disease11.0
19hepatitis d11.0
20hepatitis c10.9
21hepatitis a10.9
22insulin resistance10.8
23hepatitis c virus10.8
24lip disease10.7
25hepatitis e10.7
26nonalcoholic steatohepatitis10.7
27nutrition disease10.6
28alcoholic hepatitis10.6
29hepatitis b10.5
30portal hypertension10.5
31duarte variant galactosemia10.5
32hepatopulmonary syndrome10.4
33alcoholic liver cirrhosis10.4
34vascular disease10.4
35autosomal dominant disease10.4
36viral hepatitis10.4
37atherosclerosis10.4
38acute liver failure10.4
39primary biliary cirrhosis10.4
40thrombocytopenia10.4
41short syndrome10.4
42short bowel syndrome10.4
43autoimmune hepatitis10.4
44erythropoietic protoporphyria10.4
45alcohol abuse10.3
46polycystic kidney disease10.3
47hepatic coma10.3
48hepatorenal syndrome10.3
49liver failure acute infantile10.3
50cryoglobulinemia10.3

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to galactosemia

Clinical Features for Galactosemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

230400,230350,230200

Clinical synopsis from OMIM:

230400

Symptoms:

49 (show all 36)
  • autosomal recessive inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • motor deficit/trouble
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cataract/lens opacification
  • hepatomegaly/liver enlargement (excluding storage disease)
  • metabolic anomalies
  • mild visual loss/impaired visual acuity
  • microcephaly
  • obnubilation/coma/lethargia/desorientation
  • late puberty/hypogonadism/hypogenitalism
  • renal failure
  • abnormal cry/voice/phonation disorder/nasal speech
  • hypoglycemia
  • ascitis
  • hepatitis/icterus/cholestasis
  • hepatocellular liver disease/hepatic failure
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • hemolytic anemia
  • stillbirth/neonatal death
  • sterility/hypofertility
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • sepsis severe/septicemia
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • edema of the legs/lower limbs
  • functional anomalies of the genital system
  • chronic hepatic failure

Drugs & Therapeutics for Galactosemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Galactosemia

Drug clinical trials:

Search ClinicalTrials for Galactosemia

Search NIH Clinical Center for Galactosemia

Search CenterWatch for Galactosemia

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Galactosemia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Galactosemia:

id Genetic test Affiliating Genes
1 Galactosemia20 22 GALT
2 Galactokinase Deficiency20 GALK1
3 Deficiency Of Galactokinase22
4 Deficiency Of Udpglucose-hexose-1-phosphate Uridylyltransferase22
5 Udpglucose-4-epimerase Deficiency22

Anatomical Context for Galactosemia

Animal Models for Galactosemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Galactosemia

Sources:
51PubMed
See all sources

Articles related to Galactosemia:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion. (22729817)
2013
2
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia. (23583749)
2013
3
Galactosemia screening with low false-positive recall rate: the Swedish experience. (23430863)
2012
4
Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia. (22087537)
2012
5
Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. (22798028)
2012
6
Galactosemia presenting as recurrent sepsis. (21321007)
2011
7
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. (21116719)
2011
8
Generalized epimerase deficiency galactosemia. (20725869)
2010
9
Gonadal function in male and female patients with classic galactosemia. (19793842)
2010
10
Untreated classical galactosemia patient with mild phenotype. (16621642)
2006
11
The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro. (15918554)
2005
12
Identification of novel mutations in classical galactosemia. (15841485)
2005
13
Diagnosis and management of galactosemia: an Egyptian experience. (15633891)
2004
14
Living with classical galactosemia: health-related quality of life consequences. (15121984)
2004
15
Crohn disease in an adolescent with galactosemia. (11840043)
2002
16
Abnormalities of retinal metabolism in diabetes and experimental galactosemia. VII. Effect of long-term administration of antioxidants on the development of retinopathy. (11473058)
2001
17
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia. (11053301)
2000
18
The molecular biology of galactosemia. (11261429)
1998
19
Galactosemia: promise, frustration and challenge. (9176823)
1997
20
Introduction of newborn screening for galactosemia to Arkansas. (8867237)
1996
21
Galactose-1-phosphate in the pathophysiology of galactosemia. (7671964)
1995
22
Newborn mass screening for galactosemia. (7671962)
1995
23
Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy. (8229508)
1993
24
Results of a survey of carrier women for the galactosemia gene. (8405535)
1993
25
Minimizing false positive diagnoses in newborn screening for galactosemia. (1476788)
1992
26
Fulminant hepatitis B and neonatal hepatitis with galactosemia-like presentation. (2009726)
1991
27
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. (2011574)
1991
28
Screening checks newborns for galactosemia, hemoglobinopathy. (2030463)
1991
29
Gonadal function and ovarian galactose metabolism in classic galactosemia. (2492704)
1989
30
Ophthalmic findings in classical galactosemia--a screened population. (2760788)
1989
31
Ovarian androgen secretion in patients with galactosemia and premature ovarian failure. (2954857)
1987
32
Cerebral edema and galactosemia. (3658581)
1987
33
Blood-brain transfer of galactose in experimental galactosemia, with special reference to the competitive interaction between galactose and glucose. (6491672)
1984
34
Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. (6276048)
1982
35
Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia. (7069531)
1982
36
A new method of blood galactose estimation for mass screening of galactosemia. (7256730)
1981
37
Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance. (7324920)
1981
38
Borderline galactosemia. (7211358)
1980
39
Enamel hypoplasia in children with galactosemia associated with periods of poor control. (344360)
1978
40
Escherichia coli septicemia in neonates with galactosemia. (337139)
1977
41
Letter: Unconjugated hyperbilirubinemia in galactosemia. (1117919)
1975
42
The genetic defect in galactosemia. (46587)
1975
43
Mannitol excretion in galactosemia patients. (1183024)
1975
44
Detection of inborn errors of metabolism: galactosemia. (4689218)
1973
45
Septicemia in galactosemia. (5107922)
1971
46
The neuropathology of galactosemia. A histopathological and biochemical study. (4105426)
1971
47
Fluorometric screening procedure for galactosemia utilizing the autoanalyzer. (5348510)
1969
48
A case of galactosemia. (5590716)
1967
49
Observations on the influence of orotic acid on galactose metabolism in congenital galactosemia. (5901339)
1966
50
SCREENING FOR GALACTOSEMIA AMONG MENTALLY RETARDED PATIENTS. (14293784)
1965

Genetic Variations for Galactosemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Galactosemia:

63 (show all 124)
id Symbol AA change Variation SNP ID
1GALTp.Asp28TyrVAR_002548
2GALTp.Ile32AsnVAR_002549
3GALTp.Gln38ProVAR_002550
4GALTp.Val44LeuVAR_002551
5GALTp.Val44MetVAR_002552
6GALTp.Arg51LeuVAR_002553
7GALTp.Gly55CysVAR_002554
8GALTp.Arg67CysVAR_002556
9GALTp.Leu74ProVAR_002557
10GALTp.Ala81ThrVAR_002558
11GALTp.Asn97SerVAR_002559
12GALTp.Asp98AsnVAR_002560
13GALTp.Asp113AsnVAR_002561
14GALTp.His114LeuVAR_002562
15GALTp.Phe117SerVAR_002563
16GALTp.Gln118HisVAR_002564
17GALTp.Arg123GlyVAR_002565
18GALTp.Arg123GlnVAR_002566
19GALTp.Val125AlaVAR_002567
20GALTp.Lys127GluVAR_002568
21GALTp.Cys130TyrVAR_002569
22GALTp.His132TyrVAR_002570
23GALTp.Ser135LeuVAR_002571rs111033690
24GALTp.Thr138MetVAR_002572
25GALTp.Leu139ProVAR_002573
26GALTp.Met142LysVAR_002574
27GALTp.Met142ValVAR_002575
28GALTp.Ser143LeuVAR_002576
29GALTp.Arg148GlyVAR_002577
30GALTp.Arg148GlnVAR_002578
31GALTp.Arg148TrpVAR_002579
32GALTp.Val150LeuVAR_002580
33GALTp.Val151AlaVAR_002581
34GALTp.Trp154GlyVAR_002582
35GALTp.Phe171SerVAR_002583
36GALTp.Gly179AspVAR_002584
37GALTp.Pro183ThrVAR_002585
38GALTp.His184GlnVAR_002586
39GALTp.Gln188ArgVAR_002587rs75391579
40GALTp.Ser192AsnVAR_002588
41GALTp.Phe194LeuVAR_002589
42GALTp.Leu195ProVAR_002590
43GALTp.Ile198MetVAR_002591
44GALTp.Ile198ThrVAR_002592
45GALTp.Ala199ThrVAR_002593
46GALTp.Arg201HisVAR_002594
47GALTp.Glu203LysVAR_002595
48GALTp.Tyr209CysVAR_002596
49GALTp.Tyr209SerVAR_002597
50GALTp.Gln212HisVAR_002598
51GALTp.Leu217ProVAR_002599
52GALTp.Leu226ProVAR_002600
53GALTp.Arg231HisVAR_002601
54GALTp.Trp249ArgVAR_002602
55GALTp.Tyr251CysVAR_002603
56GALTp.Tyr251SerVAR_002604
57GALTp.Arg258CysVAR_002605
58GALTp.Arg259TrpVAR_002606
59GALTp.Arg262ProVAR_002607
60GALTp.Leu282ValVAR_002608
61GALTp.Lys285AsnVAR_002609
62GALTp.Leu289ArgVAR_002610
63GALTp.Glu291LysVAR_002611
64GALTp.Glu308LysVAR_002612
65GALTp.Gln317HisVAR_002614
66GALTp.Gln317ArgVAR_002615
67GALTp.His319GlnVAR_002616
68GALTp.Ala320ThrVAR_002617
69GALTp.Tyr323AspVAR_002618
70GALTp.Tyr323HisVAR_002619
71GALTp.Pro324SerVAR_002620
72GALTp.Pro325LeuVAR_002621
73GALTp.Arg328HisVAR_002622
74GALTp.Ser329PheVAR_002623
75GALTp.Ala330ValVAR_002624
76GALTp.Arg333GlyVAR_002625
77GALTp.Arg333GlnVAR_002626
78GALTp.Arg333TrpVAR_002627
79GALTp.Lys334ArgVAR_002628
80GALTp.Met336LeuVAR_002629
81GALTp.Gln344LysVAR_002630
82GALTp.Thr350AlaVAR_002631
83GALTp.Ser45LeuVAR_008042
84GALTp.Met129ThrVAR_008043
85GALTp.Trp167ArgVAR_008044
86GALTp.Arg204ProVAR_008045
87GALTp.Arg272GlyVAR_008047
88GALTp.Phe294TyrVAR_008048
89GALTp.Arg51GlnVAR_023328
90GALTp.Ser135TrpVAR_023329rs111033690
91GALTp.Lys229AsnVAR_023330
92GALTp.Gln252HisVAR_023331
93GALTp.Gln9HisVAR_068531
94GALTp.Thr23AlaVAR_068532
95GALTp.Asp28HisVAR_068533
96GALTp.Arg33HisVAR_068534
97GALTp.Tyr34AsnVAR_068535
98GALTp.Ser112ArgVAR_068536
99GALTp.His132GlnVAR_068537
100GALTp.Val168LeuVAR_068538
101GALTp.Ile170ThrVAR_068539
102GALTp.Ser181AlaVAR_068540
103GALTp.Pro185HisVAR_068541
104GALTp.Pro185SerVAR_068542
105GALTp.Ser192GlyVAR_068543
106GALTp.Arg201CysVAR_068544
107GALTp.Glu220LysVAR_068545
108GALTp.Arg223SerVAR_068546
109GALTp.Leu227ProVAR_068547
110GALTp.Arg259GlnVAR_068548
111GALTp.Pro265AlaVAR_068549
112GALTp.Ile278AsnVAR_068550
113GALTp.Leu289PheVAR_068551
114GALTp.Glu291ValVAR_068552
115GALTp.Leu327ProVAR_068553
116GALTp.Leu342IleVAR_068554
117GALTp.Ala345AspVAR_068555
118GALTp.Tyr89HisVAR_068824
119GALTp.Gln103ArgVAR_068825
120GALTp.Pro166AlaVAR_068826
121GALTp.Ser181PheVAR_068827
122GALTp.Pro185LeuVAR_068828
123GALTp.Lys285ArgVAR_068829
124GALTp.Arg333LeuVAR_068830

Expression for genes affiliated with Galactosemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for genes affiliated with Galactosemia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Galactosemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Galactosemia according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1gluconate4510.5AKR1B1, GALT
2uridine diphosphate4510.4AKR1B1, GALK1, GALE
33-methylcrotonyl-coa45 2411.3ACADM, BTD
4alpha lipoic acid4510.3G6PD, AKR1B1, BTD
5lactose45 1111.3G6PD, GALK1, GALT
6phenylacetic acid50 45 2412.3OTC, AKR1B1
7streptozotocin4510.3G6PC, AKR1B1, SLC2A2
8phosphoenolpyruvate45 1111.2OTC, SLC2A2, G6PC
9carbon4510.2G6PD, GALE, GALT, AKR1B1
10vitamin b124510.2G6PD, AKR1B1, GIF
11carnitine4510.2ACADM, OTC, G6PD
12acetyl-l-carnitine4510.2ACADM, OTC
13nad+4510.2G6PD, GALE, AKR1B1, SLC25A13
14phenobarbital45 29 1112.2G6PC, G6PD, AKR1B1
15valproate4510.2OTC, IMPA1, AKR1B1
16acyl-coa4510.2BTD, OTC, ACADM
17glucose 6-phosphate45 2411.1SLC2A2, GALT, G6PD, G6PC
182-deoxyglucose45 1111.1G6PC, G6PD, GALK1, SLC2A2
194-hydroxynonenal45 2411.1CASP1, G6PD, AKR1B1
20glycerol 3-phosphate45 2411.1GK2, G6PC, G6PD
21valproic acid45 50 11 2413.1BTD, OTC, ACADM
22pyruvate4510.1G6PC, G6PD, SLC2A2, OTC
23uric acid45 2411.1CASP1, G6PC, G6PD
24pentamidine45 1111.0G6PD, G6PC
25asparagine4510.0AGA, GALT, G6PC
26mannitol45 1111.0G6PC, GALE, GALT, AKR1B1, SLC2A2
27udpglucose4510.0G6PC, GALE, GALK1, GALT, SLC25A13
283alpha-hydroxysteroid4510.0AKR1B1, G6PD
29histidine459.9OTC, GALT, G6PC, CASP1
30nadh45 11 2411.9G6PC, G6PD, GALE, AKR1B1, SLC25A13
31fatty acid459.9G6PC, BTD, SLC25A13, OTC, ACADM
32hydrogen45 2410.8ACADM, SLC2A2, AGA, AKR1B1, CASP1
33fructose45 1110.8G6PC, GALK1, AKR1B1, IMPA1, SLC2A2
34oligonucleotide459.7CASP1, GALT, FSHB, SLC2A2, OTC, ACADM
35galactose-1-phosphate459.7IMPA1, PMM2, G6PD, GALE, GALK1, GALT
36h2o2459.6CASP1, G6PC, G6PD, AKR1B1, SLC2A2
37arginine459.6G6PC, GALT, AKR1B1, BTD, SLC2A2, OTC
38actinomycin d459.6FSHB, AKR1B1, G6PD, CASP1
39glycerol45 11 2411.6GK2, G6PC, G6PD, AKR1B1, SLC25A13, OTC
40threonine459.6CASP1, GALK1, AGA, GDF9, SLC25A13, OTC
41adenylate459.6G6PC, G6PD, GALT, AKR1B1, IMPA1, FSHB
42atp45 2910.5CASP1, G6PC, G6PD, GALK1, SLC2A2, OTC
43glycogen45 2410.5CASP1, G6PC, IMPA1, BTD, SLC2A2, OTC
44lactate459.5CASP1, G6PC, G6PD, AKR1B1, BTD, OTC
45aspartate459.5CASP1, G6PC, G6PD, GALT, AGA, SLC25A13
46cysteine459.4CASP1, AKR1B1, AGA, BTD, GDF9, FSHB
47mannose 6-phosphate45 2410.4PMM2, G6PC, AGA
48glutamine459.3CASP1, G6PC, G6PD, GALK1, GALT, AKR1B1
49galactose459.3G6PC, GALE, GALK1, GALT, AKR1B1, IMPA1
50glucose459.0CASP1, G6PC, G6PD, GALK1, GALT, AKR1B1

GO Terms for genes affiliated with Galactosemia

Sources:
16Gene Ontology
See all sources

Biological processes related to Galactosemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactose metabolic processGO:00601210.1GALT, GALK1
2galactose catabolic processGO:01938810.0GALE, GALT, GALK1
3female gamete generationGO:00729210.0FSHB, GDF9
4glucose 6-phosphate metabolic processGO:0511569.7G6PD, G6PC
5carbohydrate metabolic processGO:0059759.1SLC2A2, G6PD, SLC25A13, AKR1B1, GALT, GALK1
6small molecule metabolic processGO:0442818.0ACADM, OTC, SLC2A2, SLC25A13, BTD, IMPA1

Molecular functions related to Galactosemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphate ion bindingGO:04230110.0OTC, G6PC

Products for genes affiliated with Galactosemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Galactosemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet