MCID: GLC006
MIFTS: 93

Galactosemia malady

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

Summaries for Galactosemia

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hepatocellular carcinoma and epimerase deficiency galactosemia, and has symptoms including ascitis, stillbirth/neonatal death and hemolytic anemia. 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 alglucerase and imiglucerase and the compounds gluconate and uridine diphosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and 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.

MedlinePlus:33 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.

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.

Wikipedia:63 Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Description from OMIM:46 230400,230350,230200

Aliases & Classifications for Galactosemia

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
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 63 42 20 22 21 46 10 48
galactokinase deficiency disease 63 20 22 21 60
galt deficiency 63 42 21 48
liver diseases 63 44 33 60
galactokinase deficiency 42 10 44
classic galactosemia 63 21 48
galactose-1-phosphate uridyl-transferase deficiency disease 63 21
utp hexose-1-phosphate uridylyltransferase deficiency 63 21
galactose-1-phosphate uridyltransferase deficiency 42 48
udp-galactose-4-epimerase deficiency disease 63 21
udpglucose 4-epimerase deficiency disease 21 60
classical galactosemia 44 60
liver dysfunction 44 60
liver failure 44 60
deficiency of udpglucose-hexose-1-phosphate uridylyltransferase 22
udp glucose hexose-1-phosphate uridylyltransferase deficiency 63
udpglucose hexose-1-phosphate uridylyltransferase deficiency 21
udp glucose 4-epimerase deficiency disease 63
hereditary galactokinase deficiency 42
epimerase deficiency galactosemia 21
udpglucose-4-epimerase deficiency 22
galactose epimerase deficiency 21
deficiency of galactokinase 60
galactosemia, classic 42
galactose intolerance 8
galactosemia type 1 48
galk deficiency 42
galactosemia 2 42
liver disease 10
galactosaemia 8


External Ids:

Disease Ontology8 DOID:9870
ICD9CM27 271.1
MeSH34 D005693
NCIt39 C84723
MESH via Orphanet35 D005693
ICD10 via Orphanet26 E74.2
SNOMED-CT via Orphanet57 190745006, 398664009, 124354006
UMLS via Orphanet61 C0016952

Related Diseases for Galactosemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Galactosemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 595)
idRelated DiseaseScoreTop Affiliating Genes
1hepatocellular carcinoma31.1OTC, CASP1, G6PC, SLC25A13, SLC2A2
2epimerase deficiency galactosemia30.8GALE, GALT, GALK1
3phenylketonuria30.5G6PD, OTC, ACADM, BTD
4cataract30.3G6PD, GALE, GALT, AKR1B1, GALK1
5hypothyroidism30.2BTD
6galactokinase deficiency30.2GALT, GALK1
7wilson disease30.2G6PC, G6PD, OTC
8brain disease30.2BTD, SLC25A13, OTC, ACADM
9hepatitis30.1OTC
10premature ovarian failure30.1GALT, GDF9
11fanconi bickel syndrome30.1SLC2A2, G6PC
12pancreatitis30.1CASP1
13biliary atresia30.0SLC25A13, OTC
14homocystinuria30.0OTC, BTD, G6PD
15congenital hypothyroidism30.0BTD, G6PD, ACADM
16ovarian disease30.0GDF9, GALT
17citrin deficiency29.8SLC25A13
18hemoglobinopathy29.8BTD, G6PD
19neuropathy29.8AKR1B1
20hypoglycemia29.8BTD, G6PC, AKR1B1, SLC25A13, SLC2A2, ACADM
21hepatoblastoma29.7OTC
22citrullinemia29.6OTC, SLC25A13
23reye syndrome29.6OTC, ACADM
24familial hyperlipidemia29.6AKR1B1, G6PC, SLC25A13
25glycogen storage disease29.6OTC, SLC2A2, BTD, G6PC
26fatty liver disease11.3
27polycystic liver disease11.0
28hepatitis c10.8
29obesity10.8
30alcoholic hepatitis10.7
31hepatitis a10.7
32liver cirrhosis10.7
33hypertension10.6
34portal hypertension10.5
35kidney disease10.4
36viral hepatitis10.4
37alcoholic liver cirrhosis10.4
38hepatopulmonary syndrome10.4
39peroxisomal disease10.4
40vascular disease10.4
41retinitis10.4
42autosomal dominant disease10.4
43atherosclerosis10.4
44acute liver failure10.4
45intestinal disease10.4
46autoimmune hepatitis10.3
47primary biliary cirrhosis10.3
48hepatitis d10.3
49thrombocytopenia10.3
50short bowel syndrome10.3

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to galactosemia

Clinical Features for Galactosemia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

230400,230350,230200

Clinical synopsis from OMIM:

230400

Symptoms:

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

Drugs & Therapeutics for Galactosemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

Genetic Tests for Galactosemia

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Galactosemia:

32
Liver, Skin, Testes, Brain, Bone, Eye, Cortex, Endothelial, Retina, Ovary, Kidney, Whole blood, Thyroid

Animal Models for Galactosemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Galactosemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9CASP1, G6PC, AKR1B1, AGA, BTD, SLC25A13
2MP:00053868.5UGT8, AKR1B1, AGA, GIF, IMPA1, BTD
3MP:00053788.1PMM2, G6PC, G6PD, UGT8, AKR1B1, AGA
4MP:00107687.7PMM2, CASP1, G6PC, G6PD, UGT8, AKR1B1
5MP:00053767.5ACADM, CASP1, G6PC, G6PD, GALK1, GALT

Publications for Galactosemia

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50PubMed
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Articles related to Galactosemia:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Liver Failure, Hepatic Siderosis, And Membrane Attack Complexes: Neonatal Hemochromatosis And/Or Galactosemia? (23783020)
2013
2
Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia. (24251189)
2013
3
A case of galactosemia misdiagnosed as cow's milk intolerance. (22992216)
2012
4
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. (21347587)
2011
5
Voice disorders in children with classic galactosemia. (20882349)
2011
6
Association of fungal sepsis and galactosemia. (20532692)
2010
7
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants. (19591794)
2009
8
Issues on universal screening for galactosemia. (19904445)
2008
9
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia. (17554561)
2008
10
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. (15694176)
2005
11
An updated review of the long-term neurological effects of galactosemia. (16087312)
2005
12
Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia]. (16219275)
2005
13
Galactokinase: structure, function and role in type II galactosemia. (15526155)
2004
14
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. (12350230)
2002
15
Molecular analysis in newborns from Texas affected with galactosemia. (11754113)
2002
16
Selective screening for neonatal galactosemia: an alternative approach. (11529548)
2001
17
Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. (11506413)
2001
18
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. (11092512)
2000
19
Screening for galactosemia: Philippines experience. Newborn Screening Study Group. (11405207)
1999
20
Abnormalities of retinal metabolism in diabetes or experimental galactosemia. VI. Comparison of retinal and cerebral cortex metabolism, and effects of antioxidant therapy. (9895229)
1999
21
Abnormalities of retinal metabolism in diabetes or experimental galactosemia: V. Relationship between protein kinase C and ATPases. (9519755)
1998
22
Molecular and biochemical basis of galactosemia. (9635294)
1998
23
Pregnancy-exaggerated galactosemia and congenital cataracts. (10773961)
1998
24
Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia. (9538513)
1998
25
Abnormalities of retinal metabolism in diabetes or experimental galactosemia. IV. Antioxidant defense system. (9013121)
1997
26
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. (9396569)
1997
27
Neonatal cholestasis syndrome due to galactosemia. (8840625)
1996
28
Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. (7554267)
1995
29
Galactosemia: clinical and pathologic features, tissue staining patterns with labeled galactose- and galactosamine-binding lectins, and possible loci of nonenzymatic galactosylation. (7686293)
1993
30
Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. (1619998)
1992
31
Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia. (2037114)
1991
32
Galactosemia: screening and diagnosis. (1959220)
1991
33
Effect of lactation in a mother with galactosemia. (2754558)
1989
34
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. (2834527)
1988
35
Interference by third-generation cephalosporins with neonatal screening for galactosemia. (3283316)
1988
36
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
37
Interference by antibiotics with neonatal screening for galactosemia. (3761092)
1986
38
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. (3783336)
1986
39
Curious neurologic sequelae in galactosemia. (6701054)
1984
40
Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. (6321325)
1984
41
Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs. (6303628)
1983
42
Speech and language deficits in early-treated children with galactosemia. (6848731)
1983
43
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. (7318169)
1981
44
Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy. (939702)
1976
45
Incidence of galactosemia at birth in New York State. (4811177)
1974
46
Screening of galactosemia. (5055427)
1972
47
Cystathioninuria in galactosemia and certain types of liver disease. (6075655)
1967
48
CASE REPORT: CONGENITAL GALACTOSEMIA IN A PUERTO RICAN INFANT. (14308872)
1965
49
THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE URINE OF PATIENTS WITH GALACTOSEMIA. (14245360)
1964
50
Galactosemia. (13967974)
1963

Genetic Variations for Galactosemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Galactosemia:

62 (show all 124)
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Galactosemia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Galactosemia according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1gluconate4410.5AKR1B1, GALT
2uridine diphosphate4410.4AKR1B1, GALK1, GALE
33-methylcrotonyl-coa44 2411.3ACADM, BTD
4alpha lipoic acid4410.3AKR1B1, BTD, G6PD
5lactose44 1111.3GALK1, GALT, G6PD
6phenylacetic acid49 44 2412.3AKR1B1, OTC
7streptozotocin4410.3SLC2A2, G6PC, AKR1B1
8phosphoenolpyruvate44 1111.2G6PC, OTC, SLC2A2
9carbon4410.2AKR1B1, GALT, GALE, G6PD
10vitamin b124410.2GIF, AKR1B1, G6PD
11carnitine4410.2OTC, ACADM, G6PD
12acetyl-l-carnitine4410.2ACADM, OTC
13nad+4410.2AKR1B1, SLC25A13, GALE, G6PD
14valproate4410.2OTC, AKR1B1, IMPA1
15acyl-coa4410.2BTD, OTC, ACADM
16phenobarbital44 28 1112.1G6PC, AKR1B1, G6PD
17glucose 6-phosphate44 2411.1G6PD, GALT, SLC2A2, G6PC
182-deoxyglucose44 1111.1SLC2A2, G6PD, GALK1, G6PC
194-hydroxynonenal44 2411.1CASP1, G6PD, AKR1B1
20glycerol 3-phosphate44 2411.1G6PD, G6PC, GK2
21uric acid44 2411.1CASP1, G6PC, G6PD
22valproic acid44 49 11 2413.1BTD, OTC, ACADM
23pyruvate4410.1G6PD, SLC2A2, G6PC, OTC
24pentamidine44 1111.0G6PD, G6PC
25asparagine4410.0G6PC, GALT, AGA
26mannitol44 1111.0AKR1B1, SLC2A2, G6PC, GALT, GALE
27udpglucose4410.0GALK1, G6PC, GALE, SLC25A13, GALT
283alpha-hydroxysteroid4410.0G6PD, AKR1B1
29histidine449.9CASP1, OTC, G6PC, GALT
30nadh44 11 2411.9G6PD, SLC25A13, AKR1B1, GALE, G6PC
31fatty acid449.9BTD, G6PC, SLC25A13, OTC, ACADM
32hydrogen44 2410.8ACADM, CASP1, AKR1B1, SLC2A2, AGA
33fructose44 1110.8SLC2A2, IMPA1, G6PC, AKR1B1, GALK1
34oligonucleotide449.7ACADM, OTC, FSHB, GALT, CASP1, SLC2A2
35galactose-1-phosphate449.7IMPA1, GALK1, GALT, GALE, G6PD, PMM2
36h2o2449.6SLC2A2, AKR1B1, G6PD, G6PC, CASP1
37arginine449.6BTD, AKR1B1, SLC2A2, OTC, G6PC, ACADM
38actinomycin d449.6CASP1, G6PD, AKR1B1, FSHB
39glycerol44 11 2411.6GK2, G6PD, AKR1B1, SLC25A13, G6PC, OTC
40threonine449.6GALK1, OTC, SLC25A13, GDF9, CASP1, AGA
41adenylate449.6GALT, FSHB, G6PC, G6PD, AKR1B1, IMPA1
42atp44 2810.5GALK1, OTC, SLC2A2, G6PD, CASP1, G6PC
43glycogen44 2410.5G6PC, BTD, SLC2A2, OTC, CASP1, IMPA1
44lactate449.5CASP1, G6PC, OTC, ACADM, BTD, AKR1B1
45aspartate449.5G6PD, GALT, AGA, G6PC, CASP1, OTC
46cysteine449.4GDF9, FSHB, CASP1, BTD, AKR1B1, AGA
47mannose 6-phosphate44 2410.4AGA, G6PC, PMM2
48glutamine449.3G6PD, GALT, ACADM, OTC, AKR1B1, GALK1
49galactose449.3AKR1B1, GALT, GALK1, G6PC, GALE, IMPA1
50glucose449.0CASP1, G6PC, G6PD, GALK1, GALT, OTC

GO Terms for genes affiliated with Galactosemia

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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, GALK1, GALT
3female gamete generationGO:00729210.0FSHB, GDF9
4glucose 6-phosphate metabolic processGO:0511569.7G6PD, G6PC
5carbohydrate metabolic processGO:0059759.1G6PC, G6PD, GALE, GALK1, GALT, AKR1B1
6small molecule metabolic processGO:0442818.0ACADM, G6PC, G6PD, GALE, GALK1, GALT

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Galactosemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet