MCID: GLC006
MIFTS: 85

Galactosemia malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Galactosemia

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NIH Rare Diseases:43 Galactosemia, which means “galactose in the blood”, is a rare inherited condition. people with galactosemia have problems digesting a type of sugar called galactose from the food they eat. because they cannot break galactose down properly, it builds up in their blood. galactose is found in milk and all foods that contain milk. galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (galt), is either missing or not working properly. without enough galt enzyme activity, galactose cannot be changed to glucose so it builds up in the blood in large amounts.there are different types of galactosemia: classic galactosemia (also known as type i and is the most common and most severe form of the condition), galactosemia type ii (also called galactokinase deficiency), and type iii (also called galactose epimerase deficiency). the different types of galactosemia is caused by mutations in the galt, gale, and galk1 genes and is inherited in an autosomal recessive fashion. last updated: 6/9/2011

MalaCards based summary: Galactosemia, also known as galt deficiency, is related to galactose epimerase deficiency and galactokinase deficiency with cataracts, and has symptoms including hepatic failure, nausea and vomiting and reduced bone mineral density. An important gene associated with Galactosemia is GALT (galactose-1-phosphate uridylyltransferase), and among its related pathways are Amino sugar and nucleotide sugar metabolism and Defective BTD causes biotidinase deficiency. The drugs medium chain triglycerides and alglucerase and the compounds Galactose 1-phosphate and Uridine diphosphate glucose have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Disease Ontology:10 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

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.

Genetics Home Reference:23 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.

OMIM:47 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal... (230400) more...

Wikipedia:65 Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Aliases & Classifications for Galactosemia

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Sources:
23Genetics Home Reference, 62UMLS, 47OMIM, 10Disease Ontology, 11diseasecard, 65Wikipedia, 43NIH Rare Diseases, 22GeneTests, 12DISEASES, 24GTR, 49Orphanet, 45Novoseek, 34MedlinePlus, 57SNOMED-CT, 40NCIt, 29ICD9CM, 35MeSH, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Galactosemia, Aliases & Descriptions:

Name: Galactosemia 47 10 11 65 43 22 23 12 24
Galt Deficiency 65 43 23 49
Liver Diseases 65 45 34 62
Udpglucose Hexose-1-Phosphate Uridylyltransferase Deficiency 23 24 62
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 65 23 62
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 65 23 62
Galactose-1-Phosphate Uridyltransferase Deficiency 43 49 62
Udp-Galactose-4-Epimerase Deficiency Disease 65 23 62
Udpglucose 4-Epimerase Deficiency Disease 23 24 62
Galactokinase Deficiency Disease 65 23 62
Classic Galactosemia 65 23 49
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 43 49
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 43 49
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 43 49
Glycogen Storage Disease Type Ixb 43 49
Epimerase Deficiency Galactosemia 23 62
Glycogen Storage Disease Type 9b 43 49
Galactose Epimerase Deficiency 23 62
 
Classical Galactosemia 45 62
Galactose Intolerance 10 62
Glycogenosis Type Ixb 43 49
Glycogenosis Type 9b 43 49
Liver Dysfunction 45 62
Liver Failure 45 62
Gsd Type Ixb 43 49
Gsd Type 9b 43 49
Deficiency of Udpglucose-Hexose-1-Phosphate Uridylyltransferase 62
Udp Glucose Hexose-1-Phosphate Uridylyltransferase Deficiency 65
Udp Glucose 4-Epimerase Deficiency Disease 65
Hereditary Galactokinase Deficiency 62
Deficiency of Galactokinase 62
Galactokinase Deficiency 62
Galactosemia, Classic 43
Galactosemia Type 1 49
Galactosaemia 10
Liver Disease 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy
galt deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM47 230400
Disease Ontology10 DOID:9870
NCIt40 C84723
ICD9CM29 271.1
MeSH35 D005693
Orphanet49 79240, 79239
ICD10 via Orphanet28 E74.0, E74.2
UMLS via Orphanet63 C0268151

Related Diseases for Galactosemia

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

(show top 50)    (show all 650)
idRelated DiseaseScoreTop Affiliating Genes
1galactose epimerase deficiency30.8GALK1, GALT, GALE
2galactokinase deficiency with cataracts30.7GALK1, GALT
3cataract30.4GALK1, GALT, GALE
4fanconi-bickel syndrome30.2SLC2A2, G6PC
5hypoglycemia29.8BTD, G6PC, SLC2A2
6glycogen storage disease29.5SLC2A2, PHKB, G6PC, BTD
7fatty liver disease11.3
8polycystic liver disease11.0
9obesity10.8
10hepatitis c10.8
11hepatocellular carcinoma10.7
12hepatitis c virus10.7
13nonalcoholic steatohepatitis10.6
14phosphorylase kinase deficiency10.6
15phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.6
16epimerase deficiency galactosemia10.5
17retinitis10.5
18portal hypertension10.5
19liver cirrhosis10.4
20phenylketonuria10.4
21hepatopulmonary syndrome10.4
22alcoholic hepatitis10.4
23atherosclerosis10.4
24kidney disease10.4
25classic galactosemia and clinical variant galactosemia10.4
26duarte variant galactosemia10.4
27herpes simplex10.3
28viral hepatitis10.3
29autoimmune hepatitis10.3
30primary biliary cirrhosis10.3
31short bowel syndrome10.3
32thrombocytopenia10.3
33polycystic kidney disease10.3
34cerebritis10.3
35hypothyroidism10.3
36liver failure, transient infantile10.3
37liver failure acute infantile10.3
38intrahepatic cholestasis10.3
39hepatitis d10.3
40hepatic coma10.3
41portal vein thrombosis10.3
42hepatorenal syndrome10.3
43blindness10.3
44hepatitis10.2
45hypogonadism10.2
46alcohol dependence10.2
47wilson disease10.2
48alcohol abuse10.2
49cholangitis10.2
50peritonitis10.2

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to galactosemia

Symptoms for Galactosemia

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Symptoms by clinical synopsis from OMIM:

230400

Clinical features from OMIM:

230400

Symptoms:

 49 (show all 22)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatitis/icterus/cholestasis
  • hepatocellular liver disease/hepatic failure
  • chronic hepatic failure
  • functional anomalies of the genital system
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • cataract/lens opacification
  • abnormal cry/voice/phonation disorder/nasal speech
  • sterility/hypofertility
  • motor deficit/trouble
  • tremor
  • sepsis severe/septicemia
  • hypoglycemia
  • ataxia/incoordination/trouble of the equilibrium
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • stillbirth/neonatal death

HPO human phenotypes related to Galactosemia:

(show all 46)
id Description Frequency HPO Source Accession
1 hepatic failure hallmark (90%) HP:0001399
2 nausea and vomiting hallmark (90%) HP:0002017
3 reduced bone mineral density hallmark (90%) HP:0004349
4 reduced consciousness/confusion hallmark (90%) HP:0004372
5 cognitive impairment hallmark (90%) HP:0100543
6 weight loss hallmark (90%) HP:0001824
7 feeding difficulties in infancy hallmark (90%) HP:0008872
8 chronic hepatic failure hallmark (90%) HP:0100626
9 cataract typical (50%) HP:0000518
10 muscular hypotonia typical (50%) HP:0001252
11 tremor typical (50%) HP:0001337
12 ascites typical (50%) HP:0001541
13 abnormality of the voice typical (50%) HP:0001608
14 weight loss typical (50%) HP:0001824
15 abnormality of coagulation typical (50%) HP:0001928
16 neurological speech impairment typical (50%) HP:0002167
17 hepatomegaly typical (50%) HP:0002240
18 edema of the lower limbs typical (50%) HP:0010741
19 sepsis typical (50%) HP:0100806
20 decreased fertility typical (50%) HP:0000144
21 abnormality of the genital system occasional (7.5%) HP:0000078
22 renal insufficiency occasional (7.5%) HP:0000083
23 microcephaly occasional (7.5%) HP:0000252
24 visual impairment occasional (7.5%) HP:0000505
25 seizures occasional (7.5%) HP:0001250
26 hemolytic anemia occasional (7.5%) HP:0001878
27 hypoglycemia occasional (7.5%) HP:0001943
28 neurological speech impairment occasional (7.5%) HP:0002167
29 incoordination occasional (7.5%) HP:0002311
30 autosomal recessive inheritance HP:0000007
31 cataract HP:0000518
32 hypergonadotropic hypogonadism HP:0000815
33 intellectual disability HP:0001249
34 cirrhosis HP:0001394
35 decreased liver function HP:0001410
36 failure to thrive HP:0001508
37 hemolytic anemia HP:0001878
38 metabolic acidosis HP:0001942
39 vomiting HP:0002013
40 diarrhea HP:0002014
41 hepatomegaly HP:0002240
42 aminoaciduria HP:0003355
43 hyperchloremic metabolic acidosis HP:0004918
44 premature ovarian failure HP:0008209
45 galactosuria HP:0012023
46 hypergalactosemia HP:0012024

Drugs & Therapeutics for Galactosemia

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Drug clinical trials:

Search ClinicalTrials for Galactosemia

Search NIH Clinical Center for Galactosemia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Galactosemia

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Genetic tests related to Galactosemia:

id Genetic test Affiliating Genes
1 Galactosemia22 24 GALT
2 Deficiency of Udpglucose-Hexose-1-Phosphate Uridylyltransferase24
3 Udpglucose-4-Epimerase Deficiency24

Anatomical Context for Galactosemia

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MalaCards organs/tissues related to Galactosemia:

33
Liver, Skin, Testes, Bone, Brain, Eye, Cortex, Retina, Endothelial, Whole blood, Kidney, Thyroid, Ovary

Animal Models for Galactosemia or affiliated genes

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MGI Mouse Phenotypes related to Galactosemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.2AGA, SLC2A2, BTD, GIF, G6PC, UGT8
2MP:00053766.3AGA, UGT8, G6PC, FSHB, BTD, GALK1

Publications for Galactosemia

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Articles related to Galactosemia:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge. (25680784)
2015
2
A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. (24857409)
2014
3
Functional and structural impact of the most prevalent missense mutations in classic galactosemia. (25614870)
2014
4
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. (23319291)
2013
5
Motor and speech disorders in classic galactosemia. (23546812)
2013
6
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities. (24002815)
2013
7
Cell-based galactosemia diagnosis system based on a galactose assay using a bioluminescent Escherichia coli array. (24143930)
2013
8
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. (23924834)
2013
9
Purple sweet potato colour - a potential therapy for galactosemia? (24279733)
2013
10
Modifiers of ovarian function in girls and women with classic galactosemia. (23690308)
2013
11
Galactosemia screening with low false-positive recall rate: the Swedish experience. (23430863)
2012
12
Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection. (21951896)
2012
13
Low prevalence of classical galactosemia in Korean population. (21150919)
2011
14
Classic galactosemia presenting with unilateral Peters' anomaly. (20516712)
2010
15
Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. (20351709)
2010
16
Measures of ovarian function in galactosemia. (19646597)
2009
17
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. (18976948)
2008
18
Issues on universal screening for galactosemia. (19904445)
2008
19
Serum markers of bone turnover in children and adolescents with classic galactosemia. (18650146)
2008
20
The endocrine system in treated patients with classical galactosemia. (16935538)
2006
21
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
22
Molecular detection of galactosemia mutations by PCR-ELISA. (12491926)
2003
23
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. (12350230)
2002
24
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. (11174626)
2001
25
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. (11092512)
2000
26
Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. (10839768)
2000
27
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia. (11053301)
2000
28
Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. (9973283)
1999
29
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. (9766850)
1998
30
Galactosemia: promise, frustration and challenge. (9176823)
1997
31
Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. (9326324)
1997
32
Galactosemia in infancy: diagnosis, management, and prognosis. (9429512)
1997
33
Molecular characterization of the H319Q galactosemia mutation. (8499924)
1993
34
Epimerase Deficiency Galactosemia (21290786)
1993
35
Galactosemia: evaluation with MR imaging. (1319076)
1992
36
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. (1897530)
1991
37
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
38
Curious neurologic sequelae in galactosemia. (6701054)
1984
39
Blood-brain transfer of galactose in experimental galactosemia, with special reference to the competitive interaction between galactose and glucose. (6491672)
1984
40
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
41
Normal initial blood galactose levels in a newborn with galactosemia. (7102629)
1982
42
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. (6247691)
1980
43
Borderline galactosemia. (7211358)
1980
44
An unusual form of galactosemia: studies on erythrocytes and hair roots. (203421)
1978
45
The lens, cataracts, and galactosemia. (4700558)
1973
46
Serum hyperosmolality in experimental galactosemia. (5066777)
1972
47
Clinical and biochemical aspects of galactosemia. (5334998)
1966
48
Nutritional therapy of galactosemia. Management success depends on rigid exclusion of all galactose-containing foods. (5826643)
1965
49
THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE BRAINS OF GALACTOSEMIA PATIENTS. (14284692)
1965
50
Oxidation of Carbon-14 Labeled Galactose by Subjects with Congenital Galactosemia. (17775883)
1962

Variations for Galactosemia

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UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

64 (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

Clinvar genetic disease variations for Galactosemia:

7 (show all 253)
id Gene Variation Type Significance SNP ID Assembly Location
1GALTNC_000009.12deletionPathogenicGRCh38Chr 9, 34644530: 34653250
2GALTNM_000155.2: c.-1039_753deldeletionPathogenicGRCh37Chr 9, 34645663: 34648824
3PHKBPHKB, 1-BP INSinsertionPathogenic
4PHKBNM_000293.2(PHKB): c.1969C> T (p.Gln657Ter)single nucleotide variantPathogenicrs34667348GRCh37Chr 16, 47684830: 47684830
5PHKBPHKB, IVS4AS, A-G, -2single nucleotide variantPathogenic
6PHKBNM_000293.2(PHKB): c.1257T> A (p.Tyr419Ter)single nucleotide variantPathogenicrs121918021GRCh37Chr 16, 47630336: 47630336
7PHKBNM_000293.2(PHKB): c.2923T> C (p.Tyr975His)single nucleotide variantPathogenicrs111734407GRCh37Chr 16, 47730319: 47730319
8PHKBNM_000293.2(PHKB): c.352G> C (p.Ala118Pro)single nucleotide variantPathogenicrs121918022GRCh37Chr 16, 47536948: 47536948
9GALTNM_000155.3(GALT): c.-119_-116delGTCAdeletionPathogenicrs111033640GRCh37Chr 9, 34646583: 34646586
10GALENM_001008216.1(GALE): c.505C> T (p.Arg169Trp)single nucleotide variantPathogenicrs137853859GRCh37Chr 1, 24124208: 24124208
11GALENM_001008216.1(GALE): c.715C> T (p.Arg239Trp)single nucleotide variantPathogenicrs137853860GRCh37Chr 1, 24123267: 24123267
12GALENM_001008216.1(GALE): c.905G> A (p.Gly302Asp)single nucleotide variantPathogenicrs137853861GRCh37Chr 1, 24122724: 24122724
13GALTNG_009029.1: g.(?_4752)_(?_9014)deletionPathogenic
14GALTNG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]indelPathogenic
15GALTNM_000155.3(GALT): c.-119_-116delGTCAdeletionPathogenicrs111033640GRCh37Chr 9, 34646583: 34646586
16GALTNM_000155.3(GALT): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs111033639GRCh37Chr 9, 34646702: 34646702
17GALTNM_000155.3(GALT): c.18delC (p.Asp7Ilefs)deletionPathogenicrs111033638GRCh37Chr 9, 34646719: 34646719
18GALTNM_000155.3(GALT): c.25C> T (p.Gln9Ter)single nucleotide variantPathogenicrs111033848GRCh37Chr 9, 34646726: 34646726
19GALTNM_000155.3(GALT): c.27G> C (p.Gln9His)single nucleotide variantPathogenicrs111033637GRCh37Chr 9, 34646728: 34646728
20GALTNM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs)indelPathogenicrs111033634GRCh37Chr 9, 34646742: 34646742
21GALTNM_000155.3(GALT): c.67A> G (p.Thr23Ala)single nucleotide variantPathogenicrs111033635GRCh37Chr 9, 34646768: 34646768
22GALTNM_000155.3(GALT): c.82G> T (p.Asp28Tyr)single nucleotide variantPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
23GALTNM_000155.3(GALT): c.82G> C (p.Asp28His)single nucleotide variantPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
24GALTNM_000155.3(GALT): c.90G> C (p.Gln30His)single nucleotide variantPathogenicrs111033834GRCh37Chr 9, 34647093: 34647093
25GALTNM_000155.3(GALT): c.91C> A (p.His31Asn)single nucleotide variantPathogenicrs111033643GRCh37Chr 9, 34647094: 34647094
26GALTNM_000155.3(GALT): c.95T> A (p.Ile32Asn)single nucleotide variantPathogenicrs111033644GRCh37Chr 9, 34647098: 34647098
27GALTNM_000155.3(GALT): c.98G> A (p.Arg33His)single nucleotide variantPathogenicrs111033829GRCh37Chr 9, 34647101: 34647101
28GALTNM_000155.3(GALT): c.100T> A (p.Tyr34Asn)single nucleotide variantPathogenicrs111033836GRCh37Chr 9, 34647103: 34647103
29GALTNM_000155.3(GALT): c.107C> T (p.Pro36Leu)single nucleotide variantPathogenicrs111033645GRCh37Chr 9, 34647110: 34647110
30GALTNM_000155.3(GALT): c.113A> C (p.Gln38Pro)single nucleotide variantPathogenicrs111033646GRCh37Chr 9, 34647116: 34647116
31GALTNM_000155.3(GALT): c.130G> T (p.Val44Leu)single nucleotide variantPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
32GALTNM_000155.3(GALT): c.134_138delCAGCT (p.Ala46Profs)deletionPathogenicrs111033651GRCh37Chr 9, 34647137: 34647141
33GALTNM_000155.3(GALT): c.134C> T (p.Ser45Leu)single nucleotide variantPathogenicrs111033652GRCh37Chr 9, 34647137: 34647137
34GALTNM_000155.3(GALT): c.152G> T (p.Arg51Leu)single nucleotide variantPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
35GALTNM_000155.3(GALT): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs111033649GRCh37Chr 9, 34647163: 34647163
36GALTNM_000155.3(GALT): c.197C> A (p.Pro66His)single nucleotide variantPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
37GALTNM_000155.3(GALT): c.197C> T (p.Pro66Leu)single nucleotide variantPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
38GALTNM_000155.3(GALT): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs111033658GRCh37Chr 9, 34647202: 34647202
39GALTNM_000155.3(GALT): c.207_214delCCCTCTCA (p.Asp69Glufs)deletionPathogenicrs111033655GRCh37Chr 9, 34647210: 34647217
40GALTNM_000155.3(GALT): c.220_221insG (p.Leu74Argfs)insertionPathogenicrs111033659GRCh37Chr 9, 34647223: 34647224
41GALTNM_000155.3(GALT): c.238C> T (p.Arg80Ter)single nucleotide variantPathogenicrs111033664GRCh37Chr 9, 34647241: 34647241
42GALTNM_000155.3(GALT): c.241G> A (p.Ala81Thr)single nucleotide variantPathogenicrs111033665GRCh37Chr 9, 34647244: 34647244
43GALTNM_000155.3(GALT): c.253-2A> Gsingle nucleotide variantPathogenicrs111033661GRCh37Chr 9, 34647487: 34647487
44GALTNM_000155.3(GALT): c.265T> G (p.Tyr89Asp)single nucleotide variantPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
45GALTNM_000155.3(GALT): c.265T> C (p.Tyr89His)single nucleotide variantPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
46GALTNM_000155.3(GALT): c.285T> G (p.Phe95Leu)single nucleotide variantPathogenicrs111033668GRCh37Chr 9, 34647521: 34647521
47GALTNM_000155.3(GALT): c.290A> G (p.Asn97Ser)single nucleotide variantPathogenicrs111033669GRCh37Chr 9, 34647526: 34647526
48GALTNM_000155.3(GALT): c.367C> G (p.Arg123Gly)single nucleotide variantPathogenicrs111033674GRCh37Chr 9, 34647692: 34647692
49GALTNM_000155.3(GALT): c.292G> A (p.Asp98Asn)single nucleotide variantPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
50GALTNM_000155.3(GALT): c.292G> C (p.Asp98His)single nucleotide variantPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
51GALTNM_000155.3(GALT): c.328+2T> Csingle nucleotide variantPathogenicrs111033849GRCh37Chr 9, 34647566: 34647566
52GALTNM_000155.3(GALT): c.308A> G (p.Gln103Arg)single nucleotide variantPathogenicrs367543252GRCh37Chr 9, 34647544: 34647544
53GALTNM_000155.3(GALT): c.329-2A> Csingle nucleotide variantPathogenicrs111033667GRCh37Chr 9, 34647652: 34647652
54GALTNM_000155.3(GALT): c.334dupA (p.Ser112Lysfs)duplicationPathogenicrs111033676GRCh37Chr 9, 34647658: 34647659
55GALTNM_000155.3(GALT): c.336T> C (p.Ser112=)single nucleotide variantPathogenicrs367543254GRCh37Chr 9, 34647661: 34647661
56GALTNM_000155.3(GALT): c.337G> A (p.Asp113Asn)single nucleotide variantPathogenicrs111033677GRCh37Chr 9, 34647662: 34647662
57GALTNM_000155.3(GALT): c.341A> T (p.His114Leu)single nucleotide variantPathogenicrs111033678GRCh37Chr 9, 34647666: 34647666
58GALTNM_000155.3(GALT): c.350T> C (p.Phe117Ser)single nucleotide variantPathogenicrs111033679GRCh37Chr 9, 34647675: 34647675
59GALTNM_000155.3(GALT): c.354A> C (p.Gln118His)single nucleotide variantPathogenicrs111033673GRCh37Chr 9, 34647679: 34647679
60GALTNM_000155.3(GALT): c.368G> A (p.Arg123Gln)single nucleotide variantPathogenicrs111033675GRCh37Chr 9, 34647693: 34647693
61GALTNM_000155.3(GALT): c.374T> C (p.Val125Ala)single nucleotide variantPathogenicrs111033680GRCh37Chr 9, 34647699: 34647699
62GALTNM_000155.3(GALT): c.377+1G> Tsingle nucleotide variantPathogenicrs111033681GRCh37Chr 9, 34647703: 34647703
63GALTNM_000155.3: c.377+53_1059+87deldeletionPathogenicGRCh37Chr 9, 34647755: 34649648
64GALTNM_000155.3(GALT): c.379A> G (p.Lys127Glu)single nucleotide variantPathogenicrs111033682GRCh37Chr 9, 34647830: 34647830
65GALTNM_000155.3(GALT): c.389G> A (p.Cys130Tyr)single nucleotide variantPathogenicrs367543255GRCh37Chr 9, 34647840: 34647840
66GALTNM_000155.3(GALT): c.392T> G (p.Phe131Cys)single nucleotide variantPathogenicrs111033684GRCh37Chr 9, 34647843: 34647843
67GALTNM_000155.3(GALT): c.396C> A (p.His132Gln)single nucleotide variantPathogenicrs367543256GRCh37Chr 9, 34647847: 34647847
68GALTNM_000155.3(GALT): c.400delT (p.Trp134Glyfs)deletionPathogenicrs111033689GRCh37Chr 9, 34647851: 34647851
69GALTNM_000155.3(GALT): c.404C> G (p.Ser135Trp)single nucleotide variantPathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
70GALTNM_000155.3(GALT): c.410dupT (p.Thr138Asnfs)duplicationPathogenicrs397515628GRCh37Chr 9, 34647861: 34647861
71GALTNM_000155.3(GALT): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs111033686GRCh37Chr 9, 34647864: 34647864
72GALTNM_000155.3(GALT): c.424A> G (p.Met142Val)single nucleotide variantPathogenicrs111033692GRCh37Chr 9, 34647875: 34647875
73GALTNM_000155.3(GALT): c.425T> C (p.Met142Thr)single nucleotide variantPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
74GALTNM_000155.3(GALT): c.442C> G (p.Arg148Gly)single nucleotide variantPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
75GALTNM_000155.3(GALT): c.443G> A (p.Arg148Gln)single nucleotide variantPathogenicrs111033694GRCh37Chr 9, 34647894: 34647894
76GALTNM_000155.3(GALT): c.448G> C (p.Val150Leu)single nucleotide variantPathogenicrs111033699GRCh37Chr 9, 34647899: 34647899
77GALTNM_000155.3(GALT): c.452T> C (p.Val151Ala)single nucleotide variantPathogenicrs111033701GRCh37Chr 9, 34647903: 34647903
78GALTNM_000155.3(GALT): c.460T> G (p.Trp154Gly)single nucleotide variantPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
79GALTNM_000155.3(GALT): c.460T> C (p.Trp154Arg)single nucleotide variantPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
80GALTNM_000155.3(GALT): c.462G> A (p.Trp154Ter)single nucleotide variantPathogenicrs111033704GRCh37Chr 9, 34647913: 34647913
81GALTNM_000155.3(GALT): c.482T> C (p.Leu161Pro)single nucleotide variantPathogenicrs111033700GRCh37Chr 9, 34647933: 34647933
82GALTNM_000155.3(GALT): c.490C> T (p.Gln164Ter)single nucleotide variantPathogenicrs111033705GRCh37Chr 9, 34647941: 34647941
83GALTNM_000155.3(GALT): c.496C> G (p.Pro166Ala)single nucleotide variantPathogenicrs367543257GRCh37Chr 9, 34647947: 34647947
84GALTNM_000155.3(GALT): c.499T> C (p.Trp167Arg)single nucleotide variantPathogenicrs111033708GRCh37Chr 9, 34647950: 34647950
85GALTNM_000155.3(GALT): c.502G> T (p.Val168Leu)single nucleotide variantPathogenicrs367543258GRCh37Chr 9, 34647953: 34647953
86GALTNM_000155.3(GALT): c.505C> A (p.Gln169Lys)single nucleotide variantPathogenicrs111033709GRCh37Chr 9, 34647956: 34647956
87GALTNM_000155.3(GALT): c.507+2T> Csingle nucleotide variantPathogenicrs111033710GRCh37Chr 9, 34647960: 34647960
88GALTNM_000155.3(GALT): c.508-5G> Csingle nucleotide variantPathogenicrs111033714GRCh37Chr 9, 34648107: 34648107
89GALTNM_000155.3(GALT): c.509T> C (p.Ile170Thr)single nucleotide variantPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
90GALTNM_000155.3(GALT): c.509T> A (p.Ile170Asn)single nucleotide variantPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
91GALTNM_000155.3(GALT): c.524G> A (p.Gly175Asp)single nucleotide variantPathogenicrs111033718GRCh37Chr 9, 34648128: 34648128
92GALTNM_000155.3(GALT): c.528_529insG (p.Met177Aspfs)insertionPathogenicrs111033719GRCh37Chr 9, 34648132: 34648133
93GALTNM_000155.3(GALT): c.536G> A (p.Gly179Asp)single nucleotide variantPathogenicrs111033720GRCh37Chr 9, 34648140: 34648140
94GALTNM_000155.3(GALT): c.539G> T (p.Cys180Phe)single nucleotide variantPathogenicrs111033844GRCh37Chr 9, 34648143: 34648143
95GALTNM_000155.3(GALT): c.541T> G (p.Ser181Ala)single nucleotide variantPathogenicrs111033828GRCh37Chr 9, 34648145: 34648145
96GALTNM_000155.3(GALT): c.542C> T (p.Ser181Phe)single nucleotide variantPathogenicrs367543259GRCh37Chr 9, 34648146: 34648146
97GALTNM_000155.3(GALT): c.550C> G (p.His184Asp)single nucleotide variantPathogenicrs111033716GRCh37Chr 9, 34648154: 34648154
98GALTNM_000155.3(GALT): c.552C> A (p.His184Gln)single nucleotide variantPathogenicrs111033717GRCh37Chr 9, 34648156: 34648156
99GALTNM_000155.3(GALT): c.553C> T (p.Pro185Ser)single nucleotide variantPathogenicrs111033826GRCh37Chr 9, 34648157: 34648157
100GALTNM_000155.3(GALT): c.554C> A (p.Pro185His)single nucleotide variantPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
101GALTNM_000155.3(GALT): c.554C> T (p.Pro185Leu)single nucleotide variantPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
102GALTNM_000155.3(GALT): c.556C> T (p.His186Tyr)single nucleotide variantPathogenicrs111033725GRCh37Chr 9, 34648160: 34648160
103GALTNM_000155.3(GALT): c.564+1G> Asingle nucleotide variantPathogenicrs111033723GRCh37Chr 9, 34648169: 34648169
104GALTNM_000155.3(GALT): c.565-2A> Gsingle nucleotide variantPathogenicrs111033731GRCh37Chr 9, 34648329: 34648329
105GALTNM_000155.3(GALT): c.574A> G (p.Ser192Gly)single nucleotide variantPathogenicrs111033830GRCh37Chr 9, 34648340: 34648340
106GALTNM_000155.3(GALT): c.575G> A (p.Ser192Asn)single nucleotide variantPathogenicrs111033734GRCh37Chr 9, 34648341: 34648341
107GALTNM_000155.3(GALT): c.584T> C (p.Leu195Pro)single nucleotide variantPathogenicrs111033728GRCh37Chr 9, 34648350: 34648350
108GALTNM_000155.3(GALT): c.594T> G (p.Ile198Met)single nucleotide variantPathogenicrs111033729GRCh37Chr 9, 34648360: 34648360
109GALTNM_000155.3(GALT): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs111033730GRCh37Chr 9, 34648361: 34648361
110GALTNM_000155.3(GALT): c.598delC (p.Gln200Serfs)deletionPathogenicrs111033738GRCh37Chr 9, 34648364: 34648364
111GALTNM_000155.3(GALT): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs111033739GRCh37Chr 9, 34648367: 34648367
112GALTNM_000155.3(GALT): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs111033735GRCh37Chr 9, 34648368: 34648368
113GALTNM_000155.3(GALT): c.610C> T (p.Arg204Ter)single nucleotide variantPathogenicrs111033737GRCh37Chr 9, 34648376: 34648376
114GALTNM_000155.3(GALT): c.611G> C (p.Arg204Pro)single nucleotide variantPathogenicrs111033740GRCh37Chr 9, 34648377: 34648377
115GALTNM_000155.3(GALT): c.619C> T (p.Gln207Ter)single nucleotide variantPathogenicrs111033743GRCh37Chr 9, 34648385: 34648385
116GALTNM_000155.3(GALT): c.626A> G (p.Tyr209Cys)single nucleotide variantPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
117GALTNM_000155.3(GALT): c.626A> C (p.Tyr209Ser)single nucleotide variantPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
118GALTNM_000155.3(GALT): c.634C> T (p.Gln212Ter)single nucleotide variantPathogenicrs111033746GRCh37Chr 9, 34648400: 34648400
119GALTNM_000155.3(GALT): c.635A> C (p.Gln212Pro)single nucleotide variantPathogenicrs111033833GRCh37Chr 9, 34648401: 34648401
120GALTNM_000155.3(GALT): c.650T> C (p.Leu217Pro)single nucleotide variantPathogenicrs111033741GRCh37Chr 9, 34648416: 34648416
121GALTNM_000155.3(GALT): c.652delC (p.Leu218Terfs)deletionPathogenicrs111033742GRCh37Chr 9, 34648418: 34648418
122GALTNM_000155.3(GALT): c.652C> G (p.Leu218Val)single nucleotide variantPathogenicrs2070075GRCh37Chr 9, 34648418: 34648418
123GALTNM_000155.3(GALT): c.658G> A (p.Glu220Lys)single nucleotide variantPathogenicrs111033747GRCh37Chr 9, 34648424: 34648424
124GALTNM_000155.3(GALT): c.658dupG (p.Glu220Glyfs)duplicationPathogenicrs111033825GRCh37Chr 9, 34648424: 34648425
125GALTNM_000155.3(GALT): c.667C> A (p.Arg223Ser)single nucleotide variantPathogenicrs111033750GRCh37Chr 9, 34648433: 34648433
126GALTNM_000155.3(GALT): c.677T> C (p.Leu226Pro)single nucleotide variantPathogenicrs111033752GRCh37Chr 9, 34648443: 34648443
127GALTNM_000155.3(GALT): c.687G> T (p.Lys229Asn)single nucleotide variantPathogenicrs111033753GRCh37Chr 9, 34648453: 34648453
128GALTNM_000155.3(GALT): c.687+2T> Csingle nucleotide variantPathogenicrs111033748GRCh37Chr 9, 34648455: 34648455
129GALTNM_000155.3(GALT): c.691C> T (p.Arg231Cys)single nucleotide variantPathogenicrs111033749GRCh37Chr 9, 34648762: 34648762
130GALTNM_000155.3(GALT): c.692G> A (p.Arg231His)single nucleotide variantPathogenicrs111033754GRCh37Chr 9, 34648763: 34648763
131GALTNM_000155.3(GALT): c.697G> C (p.Val233Leu)single nucleotide variantPathogenicrs111033843GRCh37Chr 9, 34648768: 34648768
132GALTNM_000155.3(GALT): c.719_728delTAGTACTGGT (p.Leu240Serfs)deletionPathogenicrs111033838GRCh37Chr 9, 34648790: 34648799
133GALTNM_000155.3(GALT): c.745T> C (p.Trp249Arg)single nucleotide variantPathogenicrs111033757GRCh37Chr 9, 34648816: 34648816
134GALTNM_000155.3(GALT): c.747G> A (p.Trp249Ter)single nucleotide variantPathogenicrs111033758GRCh37Chr 9, 34648818: 34648818
135GALTNM_000155.3(GALT): c.752A> G (p.Tyr251Cys)single nucleotide variantPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
136GALTNM_000155.3(GALT): c.752A> C (p.Tyr251Ser)single nucleotide variantPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
137GALTNM_000155.3(GALT): c.756G> T (p.Gln252His)single nucleotide variantPathogenicrs111033769GRCh37Chr 9, 34648827: 34648827
138GALTL255AfsX12insertionPathogenic
139GALTNM_000155.3(GALT): c.768_770delGCC (p.Pro257del)deletionPathogenicrs111033770GRCh37Chr 9, 34648839: 34648841
140GALTNM_000155.3(GALT): c.770C> T (p.Pro257Leu)single nucleotide variantPathogenicrs111033845GRCh37Chr 9, 34648841: 34648841
141GALTM60091.1: c.775C> T?undetermined variantPathogenic
142GALTNM_000155.3(GALT): c.779_790delATGTGCGGCGGC (p.His260_Arg263del)deletionPathogenicrs111033762GRCh37Chr 9, 34648849: 34648860
143GALTNM_000155.3(GALT): c.785G> C (p.Arg262Pro)single nucleotide variantPathogenicrs111033763GRCh37Chr 9, 34648856: 34648856
144GALTNM_000155.3(GALT): c.790_792delCTAinsTAG (p.Leu264Ter)indelPathogenicrs367543270GRCh37Chr 9, 34648861: 34648863
145GALTNM_000155.3(GALT): c.793C> G (p.Pro265Ala)single nucleotide variantPathogenicrs111033764GRCh37Chr 9, 34648864: 34648864
146GALTNM_000155.3(GALT): c.812A> G (p.Glu271Gly)single nucleotide variantPathogenicrs111033765GRCh37Chr 9, 34648883: 34648883
147GALTNM_000155.3(GALT): c.814C> G (p.Arg272Gly)single nucleotide variantPathogenicrs111033766GRCh37Chr 9, 34648885: 34648885
148GALTNM_000155.3(GALT): c.821-2A> Gsingle nucleotide variantPathogenicrs111033767GRCh37Chr 9, 34648993: 34648993
149GALTNM_000155.3(GALT): c.824delT (p.Leu275Glnfs)deletionPathogenicrs111033777GRCh37Chr 9, 34648998: 34648998
150GALTNM_000155.3(GALT): c.833T> A (p.Ile278Asn)single nucleotide variantPathogenicrs111033778GRCh37Chr 9, 34649007: 34649007
151GALTNM_000155.3(GALT): c.836T> G (p.Met279Arg)single nucleotide variantPathogenicrs111033779GRCh37Chr 9, 34649010: 34649010
152GALTNM_000155.3(GALT): c.844C> G (p.Leu282Val)single nucleotide variantLikely pathogenic, Pathogenicrs111033772GRCh37Chr 9, 34649018: 34649018
153GALTNM_000155.3(GALT): c.854A> G (p.Lys285Arg)single nucleotide variantPathogenicrs367543263GRCh37Chr 9, 34649028: 34649028
154GALTNM_000155.3(GALT): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs111033774GRCh37Chr 9, 34649039: 34649039
155GALTNM_000155.3(GALT): c.866T> G (p.Leu289Arg)single nucleotide variantPathogenicrs111033775GRCh37Chr 9, 34649040: 34649040
156GALTNM_000155.3(GALT): c.871G> A (p.Glu291Lys)single nucleotide variantPathogenicrs111033780GRCh37Chr 9, 34649045: 34649045
157GALTNM_000155.3(GALT): c.872A> T (p.Glu291Val)single nucleotide variantPathogenicrs111033841GRCh37Chr 9, 34649046: 34649046
158GALTNM_000155.3(GALT): c.881T> A (p.Phe294Tyr)single nucleotide variantPathogenicrs111033781GRCh37Chr 9, 34649055: 34649055
159GALTNM_000155.3(GALT): c.882delT (p.Tyr296Thrfs)deletionPathogenicrs111033782GRCh37Chr 9, 34649056: 34649056
160GALTNM_000155.3(GALT): c.883C> A (p.Pro295Thr)single nucleotide variantPathogenicrs111033783GRCh37Chr 9, 34649057: 34649057
161GALTNM_000155.3(GALT): c.904+5G> Asingle nucleotide variantPathogenicrs367543264GRCh37Chr 9, 34649083: 34649083
162GALTNM_000155.3(GALT): c.920C> A (p.Ser307Ter)single nucleotide variantPathogenicrs367543265GRCh37Chr 9, 34649422: 34649422
163GALTNM_000155.3(GALT): c.922G> A (p.Glu308Lys)single nucleotide variantPathogenicrs111033784GRCh37Chr 9, 34649424: 34649424
164GALTNM_000155.3(GALT): c.947G> A (p.Trp316Ter)single nucleotide variantPathogenicrs111033790GRCh37Chr 9, 34649449: 34649449
165GALTNM_000155.3(GALT): c.948G> A (p.Trp316Ter)single nucleotide variantPathogenicrs111033791GRCh37Chr 9, 34649450: 34649450
166GALTNM_000155.3(GALT): c.949delC (p.Gln317Serfs)deletionPathogenicrs111033785GRCh37Chr 9, 34649451: 34649451
167GALTNM_000155.3(GALT): c.951G> T (p.Gln317His)single nucleotide variantPathogenicrs111033787GRCh37Chr 9, 34649453: 34649453
168GALTNM_000155.3(GALT): c.952delC (p.Leu318Cysfs)deletionPathogenicrs111033788GRCh37Chr 9, 34649454: 34649454
169GALTNM_000155.3(GALT): c.958G> A (p.Ala320Thr)single nucleotide variantPathogenicrs111033795GRCh37Chr 9, 34649460: 34649460
170GALTNM_000155.3(GALT): c.961C> T (p.His321Tyr)single nucleotide variantPathogenicrs367543266GRCh37Chr 9, 34649463: 34649463
171GALTNM_000155.3(GALT): c.967T> G (p.Tyr323Asp)single nucleotide variantPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
172GALTNM_000155.3(GALT): c.967T> C (p.Tyr323His)single nucleotide variantPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
173GALTNM_000155.3(GALT): c.968A> G (p.Tyr323Cys)single nucleotide variantPathogenicrs367543267GRCh37Chr 9, 34649470: 34649470
174GALTNM_000155.3(GALT): c.970C> T (p.Pro324Ser)single nucleotide variantPathogenicrs111033798GRCh37Chr 9, 34649472: 34649472
175GALTNM_000155.3(GALT): c.974C> T (p.Pro325Leu)single nucleotide variantPathogenicrs111033794GRCh37Chr 9, 34649476: 34649476
176GALTNM_000155.3(GALT): c.976delC (p.Leu326Serfs)deletionPathogenicrs111033799GRCh37Chr 9, 34649478: 34649478
177GALTNM_000155.3(GALT): c.979delC (p.Leu327Cysfs)deletionPathogenicrs111033801GRCh37Chr 9, 34649481: 34649481
178GALTNM_000155.3(GALT): c.980T> C (p.Leu327Pro)single nucleotide variantPathogenicrs111033832GRCh37Chr 9, 34649482: 34649482
179GALTNM_000155.3(GALT): c.983G> A (p.Arg328His)single nucleotide variantPathogenicrs111033802GRCh37Chr 9, 34649485: 34649485
180GALTNM_000155.3(GALT): c.986C> T (p.Ser329Phe)single nucleotide variantPathogenicrs111033803GRCh37Chr 9, 34649488: 34649488
181GALTNM_000155.3(GALT): c.989C> T (p.Ala330Val)single nucleotide variantPathogenicrs111033804GRCh37Chr 9, 34649491: 34649491
182GALTNM_000155.3(GALT): c.998G> T (p.Arg333Leu)single nucleotide variantPathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
183GALTNM_000155.3(GALT): c.1001A> G (p.Lys334Arg)single nucleotide variantPathogenicrs111033809GRCh37Chr 9, 34649503: 34649503
184GALTNM_000155.3(GALT): c.1006A> T (p.Met336Leu)single nucleotide variantPathogenicrs111033810GRCh37Chr 9, 34649508: 34649508
185GALTNM_000155.3(GALT): c.1018G> A (p.Glu340Lys)single nucleotide variantPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
186GALTNM_000155.3(GALT): c.1018G> T (p.Glu340Ter)single nucleotide variantPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
187GALTNM_000155.3(GALT): c.1024C> A (p.Leu342Ile)single nucleotide variantPathogenicrs111033812GRCh37Chr 9, 34649526: 34649526
188GALTNM_000155.3(GALT): c.1030C> A (p.Gln344Lys)single nucleotide variantLikely pathogenic, Pathogenicrs111033814GRCh37Chr 9, 34649532: 34649532
189GALTNM_000155.3(GALT): c.1034C> A (p.Ala345Asp)single nucleotide variantPathogenicrs111033815GRCh37Chr 9, 34649536: 34649536
190GALTNM_000155.3(GALT): c.1047delC (p.Thr350Profs)deletionPathogenicrs111033816GRCh37Chr 9, 34649549: 34649549
191GALTNM_000155.3(GALT): c.1048A> G (p.Thr350Ala)single nucleotide variantPathogenicrs111033817GRCh37Chr 9, 34649550: 34649550
192GALTNM_000155.3(GALT): c.1051delC (p.Pro351Leufs)deletionPathogenicrs111033813GRCh37Chr 9, 34649553: 34649553
193GALTNM_000155.3(GALT): c.1057C> T (p.Gln353Ter)single nucleotide variantPathogenicrs111033818GRCh37Chr 9, 34649559: 34649559
194GALTNM_000155.3: c.1059+56C> Tsingle nucleotide variantPathogenicrs111033821GRCh37Chr 9, 34649617: 34649617
195GALTNM_000155.3(GALT): c.1060-1G> Asingle nucleotide variantPathogenicrs367543268GRCh37Chr 9, 34650365: 34650365
196GALTNM_000155.3(GALT): c.1072delC (p.Leu358Terfs)deletionPathogenicrs397515629GRCh37Chr 9, 34650378: 34650378
197GALTNM_000155.3: c.1078_1083delGCACTTins20indelPathogenicGRCh37Chr 9, 34650384: 34650389
198GALTNM_000155.3(GALT): c.1098C> A (p.Tyr366Ter)single nucleotide variantPathogenicrs111033822GRCh37Chr 9, 34650404: 34650404
199GALTNM_000155.3(GALT): c.1108C> T (p.Gln370Ter)single nucleotide variantPathogenicrs111033823GRCh37Chr 9, 34650414: 34650414
200GALTNM_000155.3(GALT): c.1132A> G (p.Ile378Val)single nucleotide variantPathogenicrs111033819GRCh37Chr 9, 34650438: 34650438
201GALTNM_000155.3(GALT): c.1138T> C (p.Ter380Arg)single nucleotide variantPathogenicrs111033824GRCh37Chr 9, 34650444: 34650444
202GALTNM_000155.3(GALT): c.1140A> C (p.Ter380Cys)single nucleotide variantPathogenicrs111033827GRCh37Chr 9, 34650446: 34650446
203GALTNM_000155.3(GALT): c.152G> A (p.Arg51Gln)single nucleotide variantPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
204GALTNM_000155.3(GALT): c.425T> A (p.Met142Lys)single nucleotide variantPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
205GALTNM_000155.3(GALT): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
206GALTNM_000155.3(GALT): c.130G> A (p.Val44Met)single nucleotide variantPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
207GALTNM_000155.3(GALT): c.563A> G (p.Gln188Arg)single nucleotide variantPathogenicrs75391579GRCh37Chr 9, 34648167: 34648167
208GALTNM_000155.3(GALT): c.203A> C (p.His68Pro)single nucleotide variantLikely pathogenicrs193922247GRCh37Chr 9, 34647206: 34647206
209GALTNM_000155.3(GALT): c.385A> T (p.Met129Leu)single nucleotide variantLikely pathogenicrs193922248GRCh37Chr 9, 34647836: 34647836
210GALTNM_000155.3(GALT): c.221T> C (p.Leu74Pro)single nucleotide variantPathogenicrs111033663GRCh37Chr 9, 34647224: 34647224
211GALTNM_000155.3(GALT): c.687+1G> Tsingle nucleotide variantLikely pathogenicrs193922250GRCh37Chr 9, 34648454: 34648454
212GALTNM_000155.3(GALT): c.512T> C (p.Phe171Ser)single nucleotide variantPathogenicrs111033715GRCh37Chr 9, 34648116: 34648116
213GALTNM_000155.3(GALT): c.957C> A (p.His319Gln)single nucleotide variantPathogenicrs111033792GRCh37Chr 9, 34649459: 34649459
214GALTNM_000155.3(GALT): c.404C> T (p.Ser135Leu)single nucleotide variantPathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
215GALTNM_000155.3(GALT): c.547C> A (p.Pro183Thr)single nucleotide variantPathogenicrs111033721GRCh37Chr 9, 34648151: 34648151
216GALTNM_000155.3(GALT): c.855G> T (p.Lys285Asn)single nucleotide variantPathogenicrs111033773GRCh37Chr 9, 34649029: 34649029
217GALTNM_000155.3(GALT): c.607G> A (p.Glu203Lys)single nucleotide variantPathogenicrs111033736GRCh37Chr 9, 34648373: 34648373
218GALTNM_000155.3(GALT): c.997C> G (p.Arg333Gly)single nucleotide variantPathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
219GALTNM_000155.3(GALT): c.580T> C (p.Phe194Leu)single nucleotide variantPathogenicrs111033726GRCh37Chr 9, 34648346: 34648346
220GALENM_001008216.1(GALE): c.548T> C (p.Leu183Pro)single nucleotide variantPathogenicrs121908045GRCh37Chr 1, 24123618: 24123618
221GALENM_001008216.1(GALE): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenicrs121908046GRCh37Chr 1, 24125397: 24125397
222GALENM_001008216.1(GALE): c.269G> A (p.Gly90Glu)single nucleotide variantPathogenicrs28940882GRCh37Chr 1, 24124689: 24124689
223GALENM_001008216.1(GALE): c.308A> G (p.Asp103Gly)single nucleotide variantPathogenicrs28940883GRCh37Chr 1, 24124650: 24124650
224GALENM_001008216.1(GALE): c.770A> G (p.Lys257Arg)single nucleotide variantPathogenicrs28940884GRCh37Chr 1, 24123212: 24123212
225GALENM_001008216.1(GALE): c.937C> A (p.Leu313Met)single nucleotide variantPathogenicrs3180383GRCh37Chr 1, 24122692: 24122692
226GALENM_001008216.1(GALE): c.956G> A (p.Gly319Glu)single nucleotide variantPathogenicrs28940885GRCh37Chr 1, 24122673: 24122673
227GALENM_001008216.1(GALE): c.280G> A (p.Val94Met)single nucleotide variantPathogenicrs121908047GRCh37Chr 1, 24124678: 24124678
228GALTNM_000155.3(GALT): c.777G> A (p.Arg259=)single nucleotide variantPathogenicrs111033761GRCh37Chr 9, 34648848: 34648848
229GALTNM_000155.3(GALT): c.676C> G (p.Leu226Val)single nucleotide variantPathogenicrs111033751GRCh37Chr 9, 34648442: 34648442
230GALTNM_000155.3(GALT): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs111033687GRCh37Chr 9, 34647867: 34647867
231GALTNM_000155.3(GALT): c.950A> G (p.Gln317Arg)single nucleotide variantPathogenicrs111033786GRCh37Chr 9, 34649452: 34649452
232GALTNM_000155.3(GALT): c.748C> A (p.Pro250Thr)single nucleotide variantPathogenicrs111033759GRCh37Chr 9, 34648819: 34648819
233GALTNM_000155.3(GALT): c.82G> A (p.Asp28Asn)single nucleotide variantLikely pathogenic, Pathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
234GALTNM_000155.3(GALT): c.386T> C (p.Met129Thr)single nucleotide variantPathogenicrs111033683GRCh37Chr 9, 34647837: 34647837
235GALTNM_000155.3(GALT): c.394C> T (p.His132Tyr)single nucleotide variantPathogenicrs111033688GRCh37Chr 9, 34647845: 34647845
236GALTNM_000155.3(GALT): c.428C> T (p.Ser143Leu)single nucleotide variantPathogenicrs111033697GRCh37Chr 9, 34647879: 34647879
237GALTNM_000155.3(GALT): c.442C> T (p.Arg148Trp)single nucleotide variantPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
238GALTNM_000155.3(GALT): c.680T> C (p.Leu227Pro)single nucleotide variantPathogenicrs111033846GRCh37Chr 9, 34648446: 34648446
239GALTNM_000155.3(GALT): c.815G> A (p.Arg272His)single nucleotide variantPathogenicrs111033831GRCh37Chr 9, 34648886: 34648886
240GALTNM_000155.3(GALT): c.247G> A (p.Gly83Arg)single nucleotide variantPathogenicrs111033660GRCh37Chr 9, 34647250: 34647250
241M60091.1: c.772C> Tsingle nucleotide variantPathogenic
242GALTNM_000155.3(GALT): c.163G> T (p.Gly55Cys)single nucleotide variantPathogenicrs111033654GRCh37Chr 9, 34647166: 34647166
243GALTNM_000155.3(GALT): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
244GALTNM_000155.3(GALT): c.857A> G (p.Tyr286Cys)single nucleotide variantPathogenicrs367543262GRCh37Chr 9, 34649031: 34649031
245GALTNM_000155.3(GALT): c.220_221delCT (p.Leu74Valfs)deletionPathogenicrs111033662GRCh37Chr 9, 34647223: 34647224
246GALTNM_000155.3(GALT): c.398_399dupCC (p.Trp134Profs)duplicationPathogenicrs367543269GRCh37Chr 9, 34647850: 34647851
247GALTNM_000155.3(GALT): c.904+1G> Tsingle nucleotide variantPathogenicrs367543271GRCh37Chr 9, 34649079: 34649079
248GALTNM_000155.3(GALT): c.959C> T (p.Ala320Val)single nucleotide variantLikely pathogenicrs367543272GRCh37Chr 9, 34649461: 34649461
249GALK1NM_000154.1(GALK1): c.94G> A (p.Val32Met)single nucleotide variantPathogenicrs104894576GRCh37Chr 17, 73761124: 73761124
250GALK1NM_000154.1(GALK1): c.238G> T (p.Glu80Ter)single nucleotide variantPathogenicrs104894577GRCh37Chr 17, 73760095: 73760095
251GALK1NM_000154.1(GALK1): c.82C> A (p.Pro28Thr)single nucleotide variantPathogenicrs104894572GRCh37Chr 17, 73761136: 73761136
252GALK1NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter)single nucleotide variantPathogenicrs111033608GRCh37Chr 17, 73754172: 73754172
253GALK1NM_000154.1(GALK1): c.593C> T (p.Ala198Val)single nucleotide variantPathogenicrs80084721GRCh37Chr 17, 73759113: 73759113

Expression for genes affiliated with Galactosemia

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Search GEO for disease gene expression data for Galactosemia.

Pathways for genes affiliated with Galactosemia

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Pathways related to Galactosemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
colanic acid building blocks biosynthesis38
N-acetylglucosamine degradation I38
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)38
UDP-D-xylose and UDP-D-glucuronate biosynthesis38
N-acetylglucosamine degradation II38
UDP-N-acetyl-D-glucosamine biosynthesis II38
UDP-N-acetyl-D-galactosamine biosynthesis II38
GDP-L-fucose biosynthesis I (from GDP-D-mannose)38
9.6GALT, GALE, GALK1
2
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.5GIF, BTD
39.5BTD, GIF
4
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1G6PC, SLC2A2
59.1SLC2A2, G6PC
69.1SLC2A2, G6PC
7
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I38
galactose degradation I (Leloir pathway)38
Cori Cycle38
9.0G6PC, GALK1, GALE, GALT
8
Show member pathways
7.9GALK1, GALE, GALT, PHKB, SLC2A2, G6PC
9
Show member pathways
6.3GALT, PHKB, SLC2A2, GALE, GALK1, UGT8

Compounds for genes affiliated with Galactosemia

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Sources:
26HMDB, 45Novoseek, 13DrugBank
See all sources

Compounds related to Galactosemia according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1Galactose 1-phosphate2610.2GALT, GALK1
2Uridine diphosphate glucose2610.1GALE, GALT
3uridine diphosphate4510.0GALK1, GALE
4lactose45 1311.0GALK1, GALT
5galactose-1-phosphate459.9GALT, GALK1, GALE
6Uridine diphosphategalactose269.6GALT, GALE, UGT8
7asparagine459.6GALT, G6PC, AGA
8n-acetylglucosamine459.5GALT, AGA
9udpglucose459.4GALK1, GALT, GALE, G6PC
10glutamine459.4GALT, GALK1, G6PC
11streptozotocin459.3G6PC, SLC2A2
12adenylate459.3FSHB, G6PC, GALT
13phosphoenolpyruvate45 1310.2SLC2A2, G6PC
14aspartate459.2AGA, GALT, G6PC
15glucose 6-phosphate45 2610.1GALT, G6PC, SLC2A2
16fructose45 1310.1SLC2A2, GALK1, G6PC
172-deoxyglucose45 1310.1SLC2A2, GALK1, G6PC
18galactose458.6GALK1, GALE, SLC2A2, GALT, G6PC
19mannitol45 139.6G6PC, GALE, GALT, SLC2A2, GALK1
20glycogen45 269.5BTD, PHKB, SLC2A2, G6PC
21arginine458.5SLC2A2, GALT, G6PC, BTD
22glucose458.2G6PC, SLC2A2, BTD, GALK1, GALT

GO Terms for genes affiliated with Galactosemia

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Biological processes related to Galactosemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1galactose metabolic processGO:000601210.0GALT, GALK1
2galactose catabolic processGO:00193889.7GALK1, GALE, GALT
3glycogen catabolic processGO:00059809.7G6PC, PHKB
4glycogen metabolic processGO:00059779.7G6PC, PHKB
5vitamin metabolic processGO:00067669.5BTD, GIF
6water-soluble vitamin metabolic processGO:00067679.2BTD, GIF
7hexose transportGO:00086459.1SLC2A2, G6PC
8glucose transportGO:00157589.0G6PC, SLC2A2
9carbohydrate metabolic processGO:00059758.1SLC2A2, PHKB, GALT, GALE, GALK1, G6PC
10small molecule metabolic processGO:00442817.1SLC2A2, PHKB, GALT, GALE, GALK1, BTD

Products for genes affiliated with Galactosemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Galactosemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet