MCID: GLC006
MIFTS: 64

Galactosemia malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Liver diseases, Nephrological diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Galactosemia

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Aliases & Descriptions for Galactosemia:

Name: Galactosemia 50 11 69 46 23 24 13 68 25 12
Galt Deficiency 46 23 24 52 68
Galactose-1-Phosphate Uridyltransferase Deficiency 46 23 52
Classic Galactosemia 23 24 52
Galactokinase Deficiency Disease 24 25
Classical Galactosemia 48 66
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 24
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 24
Galactose-1-Phosphate Uridylyltransferase Deficiency 68
Udp-Galactose-4-Epimerase Deficiency Disease 24
Udpglucose 4-Epimerase Deficiency Disease 66
Epimerase Deficiency Galactosemia 24
 
Galactose Epimerase Deficiency 24
Deficiency of Galactokinase 66
Udp Galactose-4-Epimerase 12
Galactosemia, Classic 46
Galactose Intolerance 11
Galactosemia Type 1 52
Galk Deficiency 24
Gale Deficiency 24
Galactosaemia 11
Galactosemias 66
Galct 68

Characteristics:

Orphanet epidemiological data:

52
galt deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile

HPO:

62
galactosemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 230400
Disease Ontology11 DOID:9870
ICD1028 E74.21
ICD9CM30 271.1
MeSH37 D005693
NCIt43 C84723
Orphanet52 ORPHA79239
ICD10 via Orphanet29 E74.2
UMLS via Orphanet67 C0268151

Summaries for Galactosemia

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NIH Rare Diseases:46 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, 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 are caused by mutations in the galt, gale, and galk1 genes. the condition is inherited in an autosomal recessive fashion. last updated: 6/25/2015

MalaCards based summary: Galactosemia, also known as galt deficiency, is related to galactose epimerase deficiency and duarte variant galactosemia, and has symptoms including weight loss, reduced bone mineral density and reduced consciousness/confusion. 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 Galactose metabolism. Affiliated tissues include liver, testes and bone, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:11 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:24 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:50 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal... (230400) more...

UniProtKB/Swiss-Prot:68 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia:69 Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Related Diseases for Galactosemia

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1galactose epimerase deficiency32.7GALE, GALK1, GALT
2duarte variant galactosemia12.3
3epimerase deficiency galactosemia12.2
4classic galactosemia and clinical variant galactosemia12.1
5galactokinase deficiency with cataracts11.6
6generalized galactose epimerase deficiency10.9
7erythrocyte galactose epimerase deficiency10.9
8amelogenesis imperfecta, type ig10.4GALK1, GALT
9fatal infantile encephalocardiomyopathy10.3GALT, SLC25A13
10alexander disease10.2ALDOB, GALK1
11retinitis10.2
12fbln5-related cutis laxa10.2GALE, GALK1, GALT
13phenylketonuria10.1
14cerebritis10.1
15fanconi-bickel syndrome10.1
16ovarian cystic teratoma10.1BGLAP, TF
17pseudopterygium10.0AMH, GALT
18cataract10.0
19hepatitis10.0
20hypothyroidism10.0
21isodicentric 1510.0BGLAP, G6PD
22hypogonadism10.0
23childhood malignant mesenchymoma10.0G6PD, TF
24kidney papillary necrosis10.0ALDOB, GALK1, GALT
25fructose intolerance9.9
26premature ovarian failure9.9
27hemochromatosis9.9
28congenital hypothyroidism9.9
29siderosis9.9
30hyperglycemia9.9
31typhus9.9G6PD, TF
32biotinidase deficiency9.8
33cholestasis9.8
34biliary atresia9.8
35homocystinuria9.8
36endotheliitis9.8
37noonan syndrome 19.8BGLAP, G6PD
38friedreich ataxia9.8
39myopia9.8
40spinal muscular atrophy, lower extremity-predominant, 2, ad9.7ALDOB, TF
41schizophrenia9.7
42cystathioninuria9.7
43peters anomaly9.7
44cystic fibrosis9.7
45cryptorchidism9.7
46diabetic neuropathy9.7
47hemophagocytic lymphohistiocytosis9.7
48hepatitis b9.7
49hydrocephalus9.7
50liver disease9.7

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to galactosemia

Symptoms for Galactosemia

About this section

Symptoms by clinical synopsis from OMIM:

230400

Clinical features from OMIM:

230400

Symptoms:

 52 (show all 24)
  • abnormality of the ovary
  • cataract
  • decreased fertility in females
  • osteoporosis
  • jaundice
  • intellectual disability
  • ataxia
  • lethargy
  • dysarthria
  • gait disturbance
  • tremor
  • hepatic failure
  • failure to thrive
  • weight loss
  • abnormal bleeding
  • hypoglycemia
  • nausea and vomiting
  • neonatal death
  • impairment of galactose metabolism
  • speech articulation difficulties
  • speech apraxia
  • feeding difficulties
  • abnormality of movement
  • sepsis

HPO human phenotypes related to Galactosemia:

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

UMLS symptoms related to Galactosemia:


sucrose intolerance, diarrhea, hepatomegaly, vomiting

Drugs & Therapeutics for Galactosemia

About this section

Drugs for Galactosemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EfavirenzPhase 4404154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
2
EmtricitabinePhase 4, Phase 2430143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
3
TenofovirPhase 4, Phase 2709147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-9-(2-phosphonomethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
 
HHA & Tenofovir
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
4
MaravirocPhase 4, Phase 2139376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
5
RitonavirPhase 4856155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
6
protease inhibitorsPhase 45157
Synonyms:
 
protease inhibitors
7
DarunavirPhase 4200635728-49-3, 206361-99-1213039
Synonyms:
(3-((4-aminobenzenesulfonyl)isobutylamino)-1-benzyl-2-hydroxypropyl)carbamic acid hexahydrofuro(2,3-b)furan-3-yl ester
(3R,3AS,6AR)-HEXAHYDROFURO[2,3-B]FURAN-3-YL(1S,2R)-3-[[(4-AMINOPHENYL)SULFONYL](ISOBUTYL)AMINO]-1-BENZYL-2-HYDROXYPROPYLCARBAMATE
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl(1S,2R)-3-[[(4-aminophenyl)sulfonyl](isobutyl)amino]-1-benzyl-2-hydroxypropylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-Hexahydrofuro(2,3-b)furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N1-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl [(2S,3R)-4-{[(4-aminophenyl)sulfonyl](2-methylpropyl)amino}-3-hydroxy-1-phenylbutan-2-yl]carbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
206361-99-1
2f80
2f81
2f8g
2hs1
2hs2
2idw
2ien
3bvb
3cyw
3d1z
3d20
618109-00-5
AC1L4U4V
AIDS073035
CHEBI:367163
CHEMBL1323
 
CID213039
Carbamic acid, [(1S,2R)-3-[[(4-aminophenyl)sulfonyl](2-methylpropyl)amino]-2-hydroxy-1-(phenylmethyl)propyl]-, (3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl ester
D03656
DB01264
Darunavir
Darunavir (USAN/INN)
Darunavir [USAN]
Darunavirum
Darunavirum [INN-Latin]
Darunavirum [INN-latin]
LS-187026
LS-187772
LS-191295
MolPort-003-846-141
N-((1S,2R)-3-(((4-Aminophenyl)sulfonyl)(2-methylpropyl)amino)-2-hydroxy-1-benzylpropyl)((1S,2R,5R)-4,6-dioxabicyclo(3.3.0)oct-2-yloxy)carboxamide
Prezista
Prezista(TM)
TMC 114
TMC-114
TMC114
UIC 94017
UIC-94017
UIC-96017
UNII-YO603Y8113
[(3aS,4R,6aR)-2,3,3a,4,5,6a-hexahydrofuro[2,3-b]furan-4-yl] N-[(2S,3R)-4-[(4-aminophenyl)sulfonyl-(2-methylpropyl)amino]-3-hydroxy-1-phenylbutan-2-yl]carbamate
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
8ACIDOPHILUSNutraceuticalPhase 3502
9glutamineNutraceuticalPhase 1, Phase 2147
10
VedolizumabPhase 144943609-66-3
Synonyms:
 
Entyvio
11
Enfuvirtide58159519-65-016130199
Synonyms:
262434-79-7
C105196
DP178
Dp 178
Enfuvirtide
Enfuvirtide [USAN]
Envelope polyprotein GP160 precursor [Contains: Exterior membrane glycoprotein,GP120, Transmembrane glycoprotein,GP41]
Fuzeon
HSDB 7341
 
LS-183961
N-Acetyl-L-tyrosyl-L-threonyl-L-seryl-L-leucyl-L-isoleucyl-L-histadyl-L-seryl-L-leucyl-L-isoleucyl-L-alpha-glutamyl-L-alpha-glutamyl-L-seryl-L-glutaminyl-L-asparaginyl-L-glutaminyl-L-glutaminyl-L-alpha-glutamyl-L-lysyl-L-asparaginyl-L-alpha-glutamyl-L-glutaminyl-L-alpha-glutamyl-L-leucyl-L-leucyl-L-alpha-glutamyl-L-leucyl-L-alpha-aspartyl-L-lysyl-L-tryptophyl-L-alanyl-L-seryl-L-leucyl-L-tryptophyl-L-asparaginyl-L-tryptophyl-L-phenylalaninamide
Pentafuside
Roche brand of pentafuside
T 20
T 20 (peptide)
T-20
T-20 cpd
T20 peptide
UNII-19OWO1T3ZE
peptide T20
12
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
13COLANutraceutical1824

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc TherapyCompletedNCT00870363Phase 4
2Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ARTRecruitingNCT01869634Phase 4
3HIV Persistence and Viral ReservoirsActive, not recruitingNCT01025427Phase 4
4Fermented Milk and Fermented Rice on the Appearance of Respiratory and Gastrointestinal SymptomsCompletedNCT01909128Phase 3
5Randomized Placebo-controlled Pilot Trial of Prebiotics+Glutamine in HIV InfectionCompletedNCT01838915Phase 1, Phase 2
6Evaluating the Safety and Tolerability of Antiretroviral Drug Regimens Used as Pre-Exposure Prophylaxis to Prevent HIV Infection in At-Risk Men Who Have Sex With Men and in At-Risk WomenCompletedNCT01505114Phase 2
7Vedolizumab (Anti-alpha4beta7) in Subjects With HIV Infection Undergoing Analytical Treatment InterruptionRecruitingNCT02788175Phase 1
8Glycosylation in Patients With GalactosaemiaCompletedNCT02218632
9Pregnancy Chances in Classic GalactosemiaCompletedNCT02091128
10Gut Associated Lymphatic Tissue (GALT) in HIV (Human Immunodeficiency Virus)- Infected PatientsCompletedNCT01679067
11The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
12Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 StudyCompletedNCT01038401
13Impact of Pre-ART Blood CD4+ T Cell Level on the Rectal Reservoir in Long-term HIV-1 Treated MenCompletedNCT02526940
14CCRC: A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Raltegravir TherapyCompletedNCT00661960
15Fuzeon Viral Decay Pilot StudyCompletedNCT00334022
16Impact of Serum-derived Bovine Immunoglobulin Protein Isolate, a Medical Food, on Nutritional Status in Patients With HIV-associated EnteropathyCompletedNCT01828593
17Intervention and Outcomes in Duarte GalactosemiaRecruitingNCT02519504
18HIV Eradication Through Cord-blood TransplantationRecruitingNCT02923076
19Evaluation of Hypoallergenicity of a New Extensively Hydrolyzed FormulaRecruitingNCT02450643
20Inactive FSH in GalactosemiaActive, not recruitingNCT00619333
21The Role of Human Milk in Development of Breast Fed Child's Intestinal MicrobiotaActive, not recruitingNCT01548313
22Gut-Associated Lymphocyte TraffickingNot yet recruitingNCT02906137
23The Lymphoid Tissue Pharmacology of Antiretroviral DrugsNot yet recruitingNCT02707926
24Raltegravir Activity In Lymphoid TissuesWithdrawnNCT00863668

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

About this section

Genetic tests related to Galactosemia:

id Genetic test Affiliating Genes
1 Deficiency of Galactokinase25
2 Galactosemia25 23 GALT

Anatomical Context for Galactosemia

About this section

MalaCards organs/tissues related to Galactosemia:

34
Liver, Testes, Bone, Brain, Ovary, Eye, T cells

Animal Models for Galactosemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Galactosemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.9AMH, G6PD, GALK1, GALT, NOX1, SLC25A13

Publications for Galactosemia

About this section

Articles related to Galactosemia:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. (26840667)
2016
2
Functional and structural impact of the most prevalent missense mutations in classic galactosemia. (25614870)
2014
3
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. (25222808)
2014
4
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead. (24718839)
2014
5
Modifiers of ovarian function in girls and women with classic galactosemia. (23690308)
2013
6
Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples. (23998325)
2013
7
Fertility preservation in female classic galactosemia patients. (23866841)
2013
8
Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. (22773758)
2013
9
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
10
Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions. (21290187)
2011
11
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. (21347587)
2011
12
Classic galactosemia presenting with unilateral Peters' anomaly. (20516712)
2010
13
Measures of ovarian function in galactosemia. (19646597)
2009
14
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. (18976948)
2008
15
Serum markers of bone turnover in children and adolescents with classic galactosemia. (18650146)
2008
16
A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis. (18358226)
2008
17
Galactosemia: the good, the bad, and the unknown. (17001680)
2006
18
Molecular detection of galactosemia mutations by PCR-ELISA. (12491926)
2003
19
Crohn disease in an adolescent with galactosemia. (11840043)
2002
20
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. (11174626)
2001
21
Abnormalities of retinal metabolism in diabetes and experimental galactosemia. VII. Effect of long-term administration of antioxidants on the development of retinopathy. (11473058)
2001
22
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. (11092512)
2000
23
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia. (11053301)
2000
24
Screening for galactosemia: Philippines experience. Newborn Screening Study Group. (11405207)
1999
25
Transient galactosemia detected by neonatal mass screening. (10365579)
1999
26
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
27
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. (9222760)
1997
28
Diet does not ensure normal development in galactosemia. (9176825)
1997
29
Galactitol in galactosemia. (7671965)
1995
30
Galactosemia: clinical features, diagnosis and management. A case report. (7642981)
1995
31
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. (1897530)
1991
32
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
33
Increased concentrations of HbAlab in hereditary fructose intolerance and galactosemia. (3587991)
1987
34
Interference by antibiotics with neonatal screening for galactosemia. (3761092)
1986
35
Blood-brain transfer of galactose in experimental galactosemia, with special reference to the competitive interaction between galactose and glucose. (6491672)
1984
36
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
37
Normal initial blood galactose levels in a newborn with galactosemia. (7102629)
1982
38
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. (6247691)
1980
39
Borderline galactosemia. (7211358)
1980
40
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia. (191219)
1977
41
Galactose-1-phosphate uridyltransferase activities in erythrocytes from a patient with galactosemia: discrepancy between two methods. (884844)
1977
42
Increased serum urate in galactosemia patients after a galactose load: a possible role of nucleotide deficiency in galactosemic liver injury. (1214453)
1975
43
Loss of transferase enzyme activity of transfused erythrocytes in galactosemia. (1118770)
1975
44
The lens, cataracts, and galactosemia. (4700558)
1973
45
Screening of galactosemia. (5055427)
1972
46
Galactosemia. (5540562)
1971
47
Hereditary galactosemia. (4890692)
1969
48
Clinical and biochemical aspects of galactosemia. (5334998)
1966
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

68 (show all 134)
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.Asn314AspVAR_002613rs2070074
66GALTp.Gln317HisVAR_002614
67GALTp.Gln317ArgVAR_002615
68GALTp.His319GlnVAR_002616
69GALTp.Ala320ThrVAR_002617
70GALTp.Tyr323AspVAR_002618
71GALTp.Tyr323HisVAR_002619
72GALTp.Pro324SerVAR_002620
73GALTp.Pro325LeuVAR_002621
74GALTp.Arg328HisVAR_002622
75GALTp.Ser329PheVAR_002623
76GALTp.Ala330ValVAR_002624
77GALTp.Arg333GlyVAR_002625
78GALTp.Arg333GlnVAR_002626
79GALTp.Arg333TrpVAR_002627
80GALTp.Lys334ArgVAR_002628
81GALTp.Met336LeuVAR_002629
82GALTp.Gln344LysVAR_002630
83GALTp.Thr350AlaVAR_002631
84GALTp.Ser45LeuVAR_008042
85GALTp.Met129ThrVAR_008043
86GALTp.Trp167ArgVAR_008044
87GALTp.Arg204ProVAR_008045
88GALTp.Arg272GlyVAR_008047
89GALTp.Phe294TyrVAR_008048
90GALTp.Arg51GlnVAR_023328
91GALTp.Ser135TrpVAR_023329rs111033690
92GALTp.Lys229AsnVAR_023330
93GALTp.Gln252HisVAR_023331
94GALTp.Gln9HisVAR_068531
95GALTp.Thr23AlaVAR_068532
96GALTp.Asp28HisVAR_068533
97GALTp.Arg33HisVAR_068534
98GALTp.Tyr34AsnVAR_068535
99GALTp.Ser112ArgVAR_068536
100GALTp.His132GlnVAR_068537
101GALTp.Val168LeuVAR_068538
102GALTp.Ile170ThrVAR_068539
103GALTp.Ser181AlaVAR_068540
104GALTp.Pro185HisVAR_068541
105GALTp.Pro185SerVAR_068542
106GALTp.Ser192GlyVAR_068543
107GALTp.Arg201CysVAR_068544
108GALTp.Glu220LysVAR_068545
109GALTp.Arg223SerVAR_068546
110GALTp.Leu227ProVAR_068547
111GALTp.Arg259GlnVAR_068548
112GALTp.Pro265AlaVAR_068549
113GALTp.Ile278AsnVAR_068550
114GALTp.Leu289PheVAR_068551
115GALTp.Glu291ValVAR_068552
116GALTp.Leu327ProVAR_068553
117GALTp.Leu342IleVAR_068554
118GALTp.Ala345AspVAR_068555
119GALTp.Tyr89HisVAR_068824
120GALTp.Gln103ArgVAR_068825
121GALTp.Pro166AlaVAR_068826
122GALTp.Ser181PheVAR_068827
123GALTp.Pro185LeuVAR_068828
124GALTp.Lys285ArgVAR_068829
125GALTp.Arg333LeuVAR_068830
126GALTp.Arg33ProVAR_072793
127GALTp.Gly83ValVAR_072794
128GALTp.Met142ThrVAR_072795
129GALTp.Gly175AspVAR_072796
130GALTp.Arg231CysVAR_072797
131GALTp.Pro244SerVAR_072798
132GALTp.Leu267ArgVAR_072799
133GALTp.Leu267ValVAR_072800
134GALTp.Glu271AspVAR_072801

Clinvar genetic disease variations for Galactosemia:

5 (show all 243)
id Gene Variation Type Significance SNP ID Assembly Location
1NC_000009.12deletionPathogenicGRCh38Chr 9, 34644530: 34653250
2GALTNM_000155.3(GALT): c.-67-52_-67-49deldeletionPathogenicrs111033640GRCh37Chr 9, 34646583: 34646586
3GALTNM_000155.3(GALT): c.445dupG (p.Ala149Glyfs)duplicationPathogenicrs786200978GRCh37Chr 9, 34647896: 34647896
4GALTNM_000155.3(GALT): c.775C> T (p.Arg259Trp)single nucleotide variantLikely pathogenic, Pathogenicrs786204763GRCh37Chr 9, 34648846: 34648846
5GALTNM_000155.3(GALT): c.82+2deldeletionPathogenicrs794726876GRCh37Chr 9, 34646785: 34646785
6GALTNM_000155.3(GALT): c.1052delC (p.Pro351Leufs)deletionPathogenicrs111033813GRCh37Chr 9, 34649554: 34649554
7GALTNM_000155.3(GALT): c.905-1G> Asingle nucleotide variantPathogenicrs794726971GRCh37Chr 9, 34649406: 34649406
8GALTNM_000155.3(GALT): c.1139G> C (p.Ter380Ser)single nucleotide variantLikely pathogenicrs749047676GRCh37Chr 9, 34650445: 34650445
9GALTNM_000155.3(GALT): c.572C> T (p.Ala191Val)single nucleotide variantLikely pathogenicrs794727838GRCh37Chr 9, 34648338: 34648338
10GALTNG_009029.1: g.(?_4752)_(?_9014)deletionPathogenic
11GALTNG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]indelPathogenic
12GALTNM_000155.3(GALT): c.-67-52_-67-49deldeletionPathogenicrs111033640GRCh37Chr 9, 34646583: 34646586
13GALTNM_000155.3(GALT): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs111033639GRCh37Chr 9, 34646702: 34646702
14GALTNM_000155.3(GALT): c.18delC (p.Asp7Ilefs)deletionPathogenicrs111033638GRCh37Chr 9, 34646719: 34646719
15GALTNM_000155.3(GALT): c.25C> T (p.Gln9Ter)single nucleotide variantPathogenicrs111033848GRCh37Chr 9, 34646726: 34646726
16GALTNM_000155.3(GALT): c.27G> C (p.Gln9His)single nucleotide variantPathogenicrs111033637GRCh37Chr 9, 34646728: 34646728
17GALTNM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs)indelPathogenicrs111033634GRCh37Chr 9, 34646742: 34646742
18GALTNM_000155.3(GALT): c.67A> G (p.Thr23Ala)single nucleotide variantPathogenicrs111033635GRCh37Chr 9, 34646768: 34646768
19GALTNM_000155.3(GALT): c.82G> T (p.Asp28Tyr)single nucleotide variantPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
20GALTNM_000155.3(GALT): c.82G> C (p.Asp28His)single nucleotide variantPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
21GALTNM_000155.3(GALT): c.90G> C (p.Gln30His)single nucleotide variantPathogenicrs111033834GRCh37Chr 9, 34647093: 34647093
22GALTNM_000155.3(GALT): c.91C> A (p.His31Asn)single nucleotide variantPathogenicrs111033643GRCh37Chr 9, 34647094: 34647094
23GALTNM_000155.3(GALT): c.95T> A (p.Ile32Asn)single nucleotide variantPathogenicrs111033644GRCh37Chr 9, 34647098: 34647098
24GALTNM_000155.3(GALT): c.98G> A (p.Arg33His)single nucleotide variantPathogenicrs111033829GRCh37Chr 9, 34647101: 34647101
25GALTNM_000155.3(GALT): c.100T> A (p.Tyr34Asn)single nucleotide variantPathogenicrs111033836GRCh37Chr 9, 34647103: 34647103
26GALTNM_000155.3(GALT): c.107C> T (p.Pro36Leu)single nucleotide variantPathogenicrs111033645GRCh37Chr 9, 34647110: 34647110
27GALTNM_000155.3(GALT): c.113A> C (p.Gln38Pro)single nucleotide variantPathogenicrs111033646GRCh37Chr 9, 34647116: 34647116
28GALTNM_000155.3(GALT): c.130G> T (p.Val44Leu)single nucleotide variantPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
29GALTNM_000155.3(GALT): c.134_138delCAGCT (p.Ala46Profs)deletionPathogenicrs111033651GRCh37Chr 9, 34647137: 34647141
30GALTNM_000155.3(GALT): c.134C> T (p.Ser45Leu)single nucleotide variantPathogenicrs111033652GRCh37Chr 9, 34647137: 34647137
31GALTNM_000155.3(GALT): c.152G> T (p.Arg51Leu)single nucleotide variantPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
32GALTNM_000155.3(GALT): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs111033649GRCh37Chr 9, 34647163: 34647163
33GALTNM_000155.3(GALT): c.197C> A (p.Pro66His)single nucleotide variantPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
34GALTNM_000155.3(GALT): c.197C> T (p.Pro66Leu)single nucleotide variantPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
35GALTNM_000155.3(GALT): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs111033658GRCh37Chr 9, 34647202: 34647202
36GALTNM_000155.3(GALT): c.207_214delCCCTCTCA (p.Asp69Glufs)deletionPathogenicrs111033655GRCh37Chr 9, 34647210: 34647217
37GALTNM_000155.3(GALT): c.220_221insG (p.Leu74Argfs)insertionPathogenicrs111033659GRCh37Chr 9, 34647223: 34647224
38GALTNM_000155.3(GALT): c.238C> T (p.Arg80Ter)single nucleotide variantPathogenicrs111033664GRCh37Chr 9, 34647241: 34647241
39GALTNM_000155.3(GALT): c.241G> A (p.Ala81Thr)single nucleotide variantPathogenicrs111033665GRCh37Chr 9, 34647244: 34647244
40GALTNM_000155.3(GALT): c.253-2A> Gsingle nucleotide variantPathogenicrs111033661GRCh37Chr 9, 34647487: 34647487
41GALTNM_000155.3(GALT): c.265T> G (p.Tyr89Asp)single nucleotide variantPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
42GALTNM_000155.3(GALT): c.265T> C (p.Tyr89His)single nucleotide variantPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
43GALTNM_000155.3(GALT): c.285T> G (p.Phe95Leu)single nucleotide variantPathogenicrs111033668GRCh37Chr 9, 34647521: 34647521
44GALTNM_000155.3(GALT): c.290A> G (p.Asn97Ser)single nucleotide variantPathogenicrs111033669GRCh37Chr 9, 34647526: 34647526
45GALTNM_000155.3(GALT): c.367C> G (p.Arg123Gly)single nucleotide variantPathogenicrs111033674GRCh37Chr 9, 34647692: 34647692
46GALTNM_000155.3(GALT): c.292G> A (p.Asp98Asn)single nucleotide variantPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
47GALTNM_000155.3(GALT): c.292G> C (p.Asp98His)single nucleotide variantPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
48GALTNM_000155.3(GALT): c.328+2T> Csingle nucleotide variantPathogenicrs111033849GRCh37Chr 9, 34647566: 34647566
49GALTNM_000155.3(GALT): c.308A> G (p.Gln103Arg)single nucleotide variantPathogenicrs367543252GRCh37Chr 9, 34647544: 34647544
50GALTNM_000155.3(GALT): c.329-2A> Csingle nucleotide variantPathogenicrs111033667GRCh37Chr 9, 34647652: 34647652
51GALTNM_000155.3(GALT): c.334dupA (p.Ser112Lysfs)duplicationPathogenicrs111033676GRCh37Chr 9, 34647659: 34647659
52GALTNM_000155.3(GALT): c.336T> C (p.Ser112=)single nucleotide variantPathogenicrs367543254GRCh37Chr 9, 34647661: 34647661
53GALTNM_000155.3(GALT): c.337G> A (p.Asp113Asn)single nucleotide variantPathogenicrs111033677GRCh37Chr 9, 34647662: 34647662
54GALTNM_000155.3(GALT): c.341A> T (p.His114Leu)single nucleotide variantPathogenicrs111033678GRCh37Chr 9, 34647666: 34647666
55GALTNM_000155.3(GALT): c.350T> C (p.Phe117Ser)single nucleotide variantPathogenicrs111033679GRCh37Chr 9, 34647675: 34647675
56GALTNM_000155.3(GALT): c.354A> C (p.Gln118His)single nucleotide variantPathogenicrs111033673GRCh37Chr 9, 34647679: 34647679
57GALTNM_000155.3(GALT): c.368G> A (p.Arg123Gln)single nucleotide variantPathogenicrs111033675GRCh37Chr 9, 34647693: 34647693
58GALTNM_000155.3(GALT): c.374T> C (p.Val125Ala)single nucleotide variantPathogenicrs111033680GRCh37Chr 9, 34647699: 34647699
59GALTNM_000155.3(GALT): c.377+1G> Tsingle nucleotide variantPathogenicrs111033681GRCh37Chr 9, 34647703: 34647703
60GALTNM_000155.3(GALT): c.377+53_1059+87deldeletionPathogenicGRCh37Chr 9, 34647755: 34649648
61GALTNM_000155.3(GALT): c.379A> G (p.Lys127Glu)single nucleotide variantPathogenicrs111033682GRCh37Chr 9, 34647830: 34647830
62GALTNM_000155.3(GALT): c.389G> A (p.Cys130Tyr)single nucleotide variantPathogenicrs367543255GRCh37Chr 9, 34647840: 34647840
63GALTNM_000155.3(GALT): c.392T> G (p.Phe131Cys)single nucleotide variantPathogenicrs111033684GRCh37Chr 9, 34647843: 34647843
64GALTNM_000155.3(GALT): c.396C> A (p.His132Gln)single nucleotide variantPathogenicrs367543256GRCh37Chr 9, 34647847: 34647847
65GALTNM_000155.3(GALT): c.400delT (p.Trp134Glyfs)deletionPathogenicrs111033689GRCh37Chr 9, 34647851: 34647851
66GALTNM_000155.3(GALT): c.404C> G (p.Ser135Trp)single nucleotide variantLikely pathogenic, Pathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
67GALTNM_000155.3(GALT): c.410dupT (p.Thr138Asnfs)duplicationPathogenicrs397515628GRCh37Chr 9, 34647861: 34647861
68GALTNM_000155.3(GALT): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs111033686GRCh37Chr 9, 34647864: 34647864
69GALTNM_000155.3(GALT): c.424A> G (p.Met142Val)single nucleotide variantPathogenicrs111033692GRCh37Chr 9, 34647875: 34647875
70GALTNM_000155.3(GALT): c.425T> C (p.Met142Thr)single nucleotide variantPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
71GALTNM_000155.3(GALT): c.442C> G (p.Arg148Gly)single nucleotide variantPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
72GALTNM_000155.3(GALT): c.443G> A (p.Arg148Gln)single nucleotide variantPathogenicrs111033694GRCh37Chr 9, 34647894: 34647894
73GALTNM_000155.3(GALT): c.448G> C (p.Val150Leu)single nucleotide variantPathogenicrs111033699GRCh37Chr 9, 34647899: 34647899
74GALTNM_000155.3(GALT): c.452T> C (p.Val151Ala)single nucleotide variantPathogenicrs111033701GRCh37Chr 9, 34647903: 34647903
75GALTNM_000155.3(GALT): c.460T> G (p.Trp154Gly)single nucleotide variantPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
76GALTNM_000155.3(GALT): c.460T> C (p.Trp154Arg)single nucleotide variantPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
77GALTNM_000155.3(GALT): c.462G> A (p.Trp154Ter)single nucleotide variantPathogenicrs111033704GRCh37Chr 9, 34647913: 34647913
78GALTNM_000155.3(GALT): c.482T> C (p.Leu161Pro)single nucleotide variantPathogenicrs111033700GRCh37Chr 9, 34647933: 34647933
79GALTNM_000155.3(GALT): c.490C> T (p.Gln164Ter)single nucleotide variantPathogenicrs111033705GRCh37Chr 9, 34647941: 34647941
80GALTNM_000155.3(GALT): c.496C> G (p.Pro166Ala)single nucleotide variantPathogenicrs367543257GRCh37Chr 9, 34647947: 34647947
81GALTNM_000155.3(GALT): c.499T> C (p.Trp167Arg)single nucleotide variantPathogenicrs111033708GRCh37Chr 9, 34647950: 34647950
82GALTNM_000155.3(GALT): c.502G> T (p.Val168Leu)single nucleotide variantLikely pathogenic, Pathogenicrs367543258GRCh37Chr 9, 34647953: 34647953
83GALTNM_000155.3(GALT): c.505C> A (p.Gln169Lys)single nucleotide variantPathogenicrs111033709GRCh37Chr 9, 34647956: 34647956
84GALTNM_000155.3(GALT): c.507+2T> Csingle nucleotide variantPathogenicrs111033710GRCh37Chr 9, 34647960: 34647960
85GALTNM_000155.3(GALT): c.508-5G> Csingle nucleotide variantPathogenicrs111033714GRCh37Chr 9, 34648107: 34648107
86GALTNM_000155.3(GALT): c.509T> C (p.Ile170Thr)single nucleotide variantPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
87GALTNM_000155.3(GALT): c.509T> A (p.Ile170Asn)single nucleotide variantPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
88GALTNM_000155.3(GALT): c.524G> A (p.Gly175Asp)single nucleotide variantPathogenicrs111033718GRCh37Chr 9, 34648128: 34648128
89GALTNM_000155.3(GALT): c.528_529insG (p.Met177Aspfs)insertionPathogenicrs111033719GRCh37Chr 9, 34648132: 34648133
90GALTNM_000155.3(GALT): c.536G> A (p.Gly179Asp)single nucleotide variantPathogenicrs111033720GRCh37Chr 9, 34648140: 34648140
91GALTNM_000155.3(GALT): c.539G> T (p.Cys180Phe)single nucleotide variantPathogenicrs111033844GRCh37Chr 9, 34648143: 34648143
92GALTNM_000155.3(GALT): c.541T> G (p.Ser181Ala)single nucleotide variantPathogenicrs111033828GRCh37Chr 9, 34648145: 34648145
93GALTNM_000155.3(GALT): c.542C> T (p.Ser181Phe)single nucleotide variantPathogenicrs367543259GRCh37Chr 9, 34648146: 34648146
94GALTNM_000155.3(GALT): c.550C> G (p.His184Asp)single nucleotide variantPathogenicrs111033716GRCh37Chr 9, 34648154: 34648154
95GALTNM_000155.3(GALT): c.552C> A (p.His184Gln)single nucleotide variantPathogenicrs111033717GRCh37Chr 9, 34648156: 34648156
96GALTNM_000155.3(GALT): c.553C> T (p.Pro185Ser)single nucleotide variantPathogenicrs111033826GRCh37Chr 9, 34648157: 34648157
97GALTNM_000155.3(GALT): c.554C> A (p.Pro185His)single nucleotide variantPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
98GALTNM_000155.3(GALT): c.554C> T (p.Pro185Leu)single nucleotide variantPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
99GALTNM_000155.3(GALT): c.556C> T (p.His186Tyr)single nucleotide variantPathogenicrs111033725GRCh37Chr 9, 34648160: 34648160
100GALTNM_000155.3(GALT): c.564+1G> Asingle nucleotide variantPathogenicrs111033723GRCh37Chr 9, 34648169: 34648169
101GALTNM_000155.3(GALT): c.565-2A> Gsingle nucleotide variantPathogenicrs111033731GRCh37Chr 9, 34648329: 34648329
102GALTNM_000155.3(GALT): c.574A> G (p.Ser192Gly)single nucleotide variantPathogenicrs111033830GRCh37Chr 9, 34648340: 34648340
103GALTNM_000155.3(GALT): c.575G> A (p.Ser192Asn)single nucleotide variantPathogenicrs111033734GRCh37Chr 9, 34648341: 34648341
104GALTNM_000155.3(GALT): c.584T> C (p.Leu195Pro)single nucleotide variantPathogenicrs111033728GRCh37Chr 9, 34648350: 34648350
105GALTNM_000155.3(GALT): c.594T> G (p.Ile198Met)single nucleotide variantPathogenicrs111033729GRCh37Chr 9, 34648360: 34648360
106GALTNM_000155.3(GALT): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs111033730GRCh37Chr 9, 34648361: 34648361
107GALTNM_000155.3(GALT): c.598delC (p.Gln200Serfs)deletionPathogenicrs111033738GRCh37Chr 9, 34648364: 34648364
108GALTNM_000155.3(GALT): c.601C> T (p.Arg201Cys)single nucleotide variantPathogenicrs111033739GRCh37Chr 9, 34648367: 34648367
109GALTNM_000155.3(GALT): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs111033735GRCh37Chr 9, 34648368: 34648368
110GALTNM_000155.3(GALT): c.610C> T (p.Arg204Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033737GRCh37Chr 9, 34648376: 34648376
111GALTNM_000155.3(GALT): c.611G> C (p.Arg204Pro)single nucleotide variantPathogenicrs111033740GRCh37Chr 9, 34648377: 34648377
112GALTNM_000155.3(GALT): c.619C> T (p.Gln207Ter)single nucleotide variantPathogenicrs111033743GRCh37Chr 9, 34648385: 34648385
113GALTNM_000155.3(GALT): c.626A> G (p.Tyr209Cys)single nucleotide variantPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
114GALTNM_000155.3(GALT): c.626A> C (p.Tyr209Ser)single nucleotide variantPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
115GALTNM_000155.3(GALT): c.634C> T (p.Gln212Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033746GRCh37Chr 9, 34648400: 34648400
116GALTNM_000155.3(GALT): c.635A> C (p.Gln212Pro)single nucleotide variantPathogenicrs111033833GRCh37Chr 9, 34648401: 34648401
117GALTNM_000155.3(GALT): c.650T> C (p.Leu217Pro)single nucleotide variantPathogenicrs111033741GRCh37Chr 9, 34648416: 34648416
118GALTNM_000155.3(GALT): c.652delC (p.Leu218Terfs)deletionPathogenicrs111033742GRCh37Chr 9, 34648418: 34648418
119GALTNM_000155.3(GALT): c.652C> G (p.Leu218Val)single nucleotide variantPathogenicrs2070075GRCh37Chr 9, 34648418: 34648418
120GALTNM_000155.3(GALT): c.658G> A (p.Glu220Lys)single nucleotide variantPathogenicrs111033747GRCh37Chr 9, 34648424: 34648424
121GALTNM_000155.3(GALT): c.658dupG (p.Glu220Glyfs)duplicationPathogenicrs111033825GRCh37Chr 9, 34648424: 34648424
122GALTNM_000155.3(GALT): c.667C> A (p.Arg223Ser)single nucleotide variantPathogenicrs111033750GRCh37Chr 9, 34648433: 34648433
123GALTNM_000155.3(GALT): c.677T> C (p.Leu226Pro)single nucleotide variantPathogenicrs111033752GRCh37Chr 9, 34648443: 34648443
124GALTNM_000155.3(GALT): c.687G> T (p.Lys229Asn)single nucleotide variantPathogenicrs111033753GRCh37Chr 9, 34648453: 34648453
125GALTNM_000155.3(GALT): c.687+2T> Csingle nucleotide variantPathogenicrs111033748GRCh37Chr 9, 34648455: 34648455
126GALTNM_000155.3(GALT): c.691C> T (p.Arg231Cys)single nucleotide variantPathogenicrs111033749GRCh37Chr 9, 34648762: 34648762
127GALTNM_000155.3(GALT): c.692G> A (p.Arg231His)single nucleotide variantPathogenicrs111033754GRCh37Chr 9, 34648763: 34648763
128GALTNM_000155.3(GALT): c.697G> C (p.Val233Leu)single nucleotide variantPathogenicrs111033843GRCh37Chr 9, 34648768: 34648768
129GALTNM_000155.3(GALT): c.719_728delTAGTACTGGT (p.Leu240Serfs)deletionPathogenicrs111033838GRCh37Chr 9, 34648790: 34648799
130GALTNM_000155.3(GALT): c.745T> C (p.Trp249Arg)single nucleotide variantPathogenicrs111033757GRCh37Chr 9, 34648816: 34648816
131GALTNM_000155.3(GALT): c.747G> A (p.Trp249Ter)single nucleotide variantPathogenicrs111033758GRCh37Chr 9, 34648818: 34648818
132GALTNM_000155.3(GALT): c.752A> G (p.Tyr251Cys)single nucleotide variantPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
133GALTNM_000155.3(GALT): c.752A> C (p.Tyr251Ser)single nucleotide variantPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
134GALTNM_000155.3(GALT): c.756G> T (p.Gln252His)single nucleotide variantPathogenicrs111033769GRCh37Chr 9, 34648827: 34648827
135GALTL255AfsX12insertionPathogenic
136GALTNM_000155.3(GALT): c.768_770delGCC (p.Pro257del)deletionPathogenicrs111033770GRCh37Chr 9, 34648839: 34648841
137GALTNM_000155.3(GALT): c.770C> T (p.Pro257Leu)single nucleotide variantPathogenicrs111033845GRCh37Chr 9, 34648841: 34648841
138GALTM60091.1: c.775C> T?undetermined variantPathogenic
139GALTNM_000155.3(GALT): c.779_790delATGTGCGGCGGC (p.His260_Arg263del)deletionPathogenicGRCh37Chr 9, 34648850: 34648861
140GALTNM_000155.3(GALT): c.785G> C (p.Arg262Pro)single nucleotide variantPathogenicrs111033763GRCh37Chr 9, 34648856: 34648856
141GALTNM_000155.3(GALT): c.793C> G (p.Pro265Ala)single nucleotide variantPathogenicrs111033764GRCh37Chr 9, 34648864: 34648864
142GALTNM_000155.3(GALT): c.812A> G (p.Glu271Gly)single nucleotide variantPathogenicrs111033765GRCh37Chr 9, 34648883: 34648883
143GALTNM_000155.3(GALT): c.814C> G (p.Arg272Gly)single nucleotide variantPathogenicrs111033766GRCh37Chr 9, 34648885: 34648885
144GALTNM_000155.3(GALT): c.821-2A> Gsingle nucleotide variantPathogenicrs111033767GRCh37Chr 9, 34648993: 34648993
145GALTNM_000155.3(GALT): c.824delT (p.Leu275Glnfs)deletionPathogenicrs111033777GRCh37Chr 9, 34648998: 34648998
146GALTNM_000155.3(GALT): c.833T> A (p.Ile278Asn)single nucleotide variantPathogenicrs111033778GRCh37Chr 9, 34649007: 34649007
147GALTNM_000155.3(GALT): c.836T> G (p.Met279Arg)single nucleotide variantPathogenicrs111033779GRCh37Chr 9, 34649010: 34649010
148GALTNM_000155.3(GALT): c.844C> G (p.Leu282Val)single nucleotide variantLikely pathogenic, Pathogenicrs111033772GRCh37Chr 9, 34649018: 34649018
149GALTNM_000155.3(GALT): c.854A> G (p.Lys285Arg)single nucleotide variantPathogenicrs367543263GRCh37Chr 9, 34649028: 34649028
150GALTNM_000155.3(GALT): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs111033774GRCh37Chr 9, 34649039: 34649039
151GALTNM_000155.3(GALT): c.866T> G (p.Leu289Arg)single nucleotide variantPathogenicrs111033775GRCh37Chr 9, 34649040: 34649040
152GALTNM_000155.3(GALT): c.871G> A (p.Glu291Lys)single nucleotide variantPathogenicrs111033780GRCh37Chr 9, 34649045: 34649045
153GALTNM_000155.3(GALT): c.872A> T (p.Glu291Val)single nucleotide variantPathogenicrs111033841GRCh37Chr 9, 34649046: 34649046
154GALTNM_000155.3(GALT): c.881T> A (p.Phe294Tyr)single nucleotide variantPathogenicrs111033781GRCh37Chr 9, 34649055: 34649055
155GALTNM_000155.3(GALT): c.882delT (p.Tyr296Thrfs)deletionPathogenicrs111033782GRCh37Chr 9, 34649056: 34649056
156GALTNM_000155.3(GALT): c.883C> A (p.Pro295Thr)single nucleotide variantPathogenicrs111033783GRCh37Chr 9, 34649057: 34649057
157GALTNM_000155.3(GALT): c.904+5G> Asingle nucleotide variantPathogenicrs367543264GRCh37Chr 9, 34649083: 34649083
158GALTNM_000155.3(GALT): c.920C> A (p.Ser307Ter)single nucleotide variantPathogenicrs367543265GRCh37Chr 9, 34649422: 34649422
159GALTNM_000155.3(GALT): c.922G> A (p.Glu308Lys)single nucleotide variantPathogenicrs111033784GRCh37Chr 9, 34649424: 34649424
160GALTNM_000155.3(GALT): c.947G> A (p.Trp316Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033790GRCh37Chr 9, 34649449: 34649449
161GALTNM_000155.3(GALT): c.948G> A (p.Trp316Ter)single nucleotide variantPathogenicrs111033791GRCh37Chr 9, 34649450: 34649450
162GALTNM_000155.3(GALT): c.949delC (p.Gln317Serfs)deletionPathogenicrs111033785GRCh37Chr 9, 34649451: 34649451
163GALTNM_000155.3(GALT): c.951G> T (p.Gln317His)single nucleotide variantPathogenicrs111033787GRCh37Chr 9, 34649453: 34649453
164GALTNM_000155.3(GALT): c.952delC (p.Leu318Cysfs)deletionPathogenicrs111033788GRCh37Chr 9, 34649454: 34649454
165GALTNM_000155.3(GALT): c.958G> A (p.Ala320Thr)single nucleotide variantPathogenicrs111033795GRCh37Chr 9, 34649460: 34649460
166GALTNM_000155.3(GALT): c.961C> T (p.His321Tyr)single nucleotide variantPathogenicrs367543266GRCh37Chr 9, 34649463: 34649463
167GALTNM_000155.3(GALT): c.967T> G (p.Tyr323Asp)single nucleotide variantPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
168GALTNM_000155.3(GALT): c.967T> C (p.Tyr323His)single nucleotide variantPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
169GALTNM_000155.3(GALT): c.968A> G (p.Tyr323Cys)single nucleotide variantPathogenicrs367543267GRCh37Chr 9, 34649470: 34649470
170GALTNM_000155.3(GALT): c.970C> T (p.Pro324Ser)single nucleotide variantPathogenicrs111033798GRCh37Chr 9, 34649472: 34649472
171GALTNM_000155.3(GALT): c.974C> T (p.Pro325Leu)single nucleotide variantPathogenicrs111033794GRCh37Chr 9, 34649476: 34649476
172GALTNM_000155.3(GALT): c.976delC (p.Leu326Serfs)deletionPathogenicrs111033799GRCh37Chr 9, 34649478: 34649478
173GALTNM_000155.3(GALT): c.979delC (p.Leu327Cysfs)deletionPathogenicrs111033801GRCh37Chr 9, 34649481: 34649481
174GALTNM_000155.3(GALT): c.980T> C (p.Leu327Pro)single nucleotide variantPathogenicrs111033832GRCh37Chr 9, 34649482: 34649482
175GALTNM_000155.3(GALT): c.983G> A (p.Arg328His)single nucleotide variantPathogenicrs111033802GRCh37Chr 9, 34649485: 34649485
176GALTNM_000155.3(GALT): c.986C> T (p.Ser329Phe)single nucleotide variantPathogenicrs111033803GRCh37Chr 9, 34649488: 34649488
177GALTNM_000155.3(GALT): c.989C> T (p.Ala330Val)single nucleotide variantPathogenicrs111033804GRCh37Chr 9, 34649491: 34649491
178GALTNM_000155.3(GALT): c.998G> T (p.Arg333Leu)single nucleotide variantPathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
179GALTNM_000155.3(GALT): c.1001A> G (p.Lys334Arg)single nucleotide variantPathogenicrs111033809GRCh37Chr 9, 34649503: 34649503
180GALTNM_000155.3(GALT): c.1006A> T (p.Met336Leu)single nucleotide variantPathogenicrs111033810GRCh37Chr 9, 34649508: 34649508
181GALTNM_000155.3(GALT): c.1018G> A (p.Glu340Lys)single nucleotide variantPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
182GALTNM_000155.3(GALT): c.1018G> T (p.Glu340Ter)single nucleotide variantPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
183GALTNM_000155.3(GALT): c.1024C> A (p.Leu342Ile)single nucleotide variantPathogenicrs111033812GRCh37Chr 9, 34649526: 34649526
184GALTNM_000155.3(GALT): c.1030C> A (p.Gln344Lys)single nucleotide variantPathogenicrs111033814GRCh37Chr 9, 34649532: 34649532
185GALTNM_000155.3(GALT): c.1034C> A (p.Ala345Asp)single nucleotide variantPathogenicrs111033815GRCh37Chr 9, 34649536: 34649536
186GALTNM_000155.3(GALT): c.1047delC (p.Thr350Profs)deletionPathogenicrs111033816GRCh37Chr 9, 34649549: 34649549
187GALTNM_000155.3(GALT): c.1048A> G (p.Thr350Ala)single nucleotide variantPathogenicrs111033817GRCh37Chr 9, 34649550: 34649550
188GALTNM_000155.3(GALT): c.1057C> T (p.Gln353Ter)single nucleotide variantPathogenicrs111033818GRCh37Chr 9, 34649559: 34649559
189GALTNM_000155.3(GALT): c.1059+56C> Tsingle nucleotide variantPathogenicrs111033821GRCh37Chr 9, 34649617: 34649617
190GALTNM_000155.3(GALT): c.1060-1G> Asingle nucleotide variantPathogenicrs367543268GRCh37Chr 9, 34650365: 34650365
191GALTNM_000155.3(GALT): c.1072delC (p.Leu358Terfs)deletionPathogenicrs397515629GRCh37Chr 9, 34650378: 34650378
192GALTNM_000155.3(GALT): c.1078_1083delGCACTTins20 (p.?)indelPathogenicrs515726228GRCh37Chr 9, 34650384: 34650389
193GALTNM_000155.3(GALT): c.1098C> A (p.Tyr366Ter)single nucleotide variantPathogenicrs111033822GRCh37Chr 9, 34650404: 34650404
194GALTNM_000155.3(GALT): c.1108C> T (p.Gln370Ter)single nucleotide variantPathogenicrs111033823GRCh37Chr 9, 34650414: 34650414
195GALTNM_000155.3(GALT): c.1132A> G (p.Ile378Val)single nucleotide variantPathogenicrs111033819GRCh37Chr 9, 34650438: 34650438
196GALTNM_000155.3(GALT): c.1138T> C (p.Ter380Arg)single nucleotide variantPathogenicrs111033824GRCh37Chr 9, 34650444: 34650444
197GALTNM_000155.3(GALT): c.1140A> C (p.Ter380Cys)single nucleotide variantPathogenicrs111033827GRCh37Chr 9, 34650446: 34650446
198GALTNM_000155.3(GALT): c.152G> A (p.Arg51Gln)single nucleotide variantPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
199GALTNM_000155.3(GALT): c.425T> A (p.Met142Lys)single nucleotide variantPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
200GALTNM_000155.3(GALT): c.997C> T (p.Arg333Trp)single nucleotide variantLikely pathogenic, Pathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
201GALTNM_000155.3(GALT): c.130G> A (p.Val44Met)single nucleotide variantPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
202GALTNM_000155.3(GALT): c.563A> G (p.Gln188Arg)single nucleotide variantPathogenicrs75391579GRCh37Chr 9, 34648167: 34648167
203GALTNM_000155.3(GALT): c.203A> C (p.His68Pro)single nucleotide variantLikely pathogenicrs193922247GRCh37Chr 9, 34647206: 34647206
204GALTNM_000155.3(GALT): c.385A> T (p.Met129Leu)single nucleotide variantLikely pathogenicrs193922248GRCh37Chr 9, 34647836: 34647836
205GALTNM_000155.3(GALT): c.221T> C (p.Leu74Pro)single nucleotide variantPathogenicrs111033663GRCh37Chr 9, 34647224: 34647224
206GALTNM_000155.3(GALT): c.687+1G> Tsingle nucleotide variantLikely pathogenicrs193922250GRCh37Chr 9, 34648454: 34648454
207GALTNM_000155.3(GALT): c.512T> C (p.Phe171Ser)single nucleotide variantPathogenicrs111033715GRCh37Chr 9, 34648116: 34648116
208GALTNM_000155.3(GALT): c.957C> A (p.His319Gln)single nucleotide variantPathogenicrs111033792GRCh37Chr 9, 34649459: 34649459
209GALTNM_000155.3(GALT): c.404C> T (p.Ser135Leu)single nucleotide variantPathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
210GALTNM_000155.3(GALT): c.547C> A (p.Pro183Thr)single nucleotide variantPathogenicrs111033721GRCh37Chr 9, 34648151: 34648151
211GALTNM_000155.3(GALT): c.855G> T (p.Lys285Asn)single nucleotide variantPathogenicrs111033773GRCh37Chr 9, 34649029: 34649029
212GALTNM_000155.3(GALT): c.607G> A (p.Glu203Lys)single nucleotide variantPathogenicrs111033736GRCh37Chr 9, 34648373: 34648373
213GALTNM_000155.3(GALT): c.997C> G (p.Arg333Gly)single nucleotide variantPathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
214GALTNM_000155.3(GALT): c.580T> C (p.Phe194Leu)single nucleotide variantPathogenicrs111033726GRCh37Chr 9, 34648346: 34648346
215GALTNM_000155.3(GALT): c.777G> A (p.Arg259=)single nucleotide variantPathogenicrs111033761GRCh37Chr 9, 34648848: 34648848
216GALTNM_000155.3(GALT): c.676C> G (p.Leu226Val)single nucleotide variantPathogenicrs111033751GRCh37Chr 9, 34648442: 34648442
217GALTNM_000155.3(GALT): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs111033687GRCh37Chr 9, 34647867: 34647867
218GALTNM_000155.3(GALT): c.950A> G (p.Gln317Arg)single nucleotide variantPathogenicrs111033786GRCh37Chr 9, 34649452: 34649452
219GALTNM_000155.3(GALT): c.748C> A (p.Pro250Thr)single nucleotide variantPathogenicrs111033759GRCh37Chr 9, 34648819: 34648819
220GALTNM_000155.3(GALT): c.82G> A (p.Asp28Asn)single nucleotide variantPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
221GALTNM_000155.3(GALT): c.386T> C (p.Met129Thr)single nucleotide variantPathogenicrs111033683GRCh37Chr 9, 34647837: 34647837
222GALTNM_000155.3(GALT): c.394C> T (p.His132Tyr)single nucleotide variantPathogenicrs111033688GRCh37Chr 9, 34647845: 34647845
223GALTNM_000155.3(GALT): c.428C> T (p.Ser143Leu)single nucleotide variantPathogenicrs111033697GRCh37Chr 9, 34647879: 34647879
224GALTNM_000155.3(GALT): c.442C> T (p.Arg148Trp)single nucleotide variantPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
225GALTNM_000155.3(GALT): c.680T> C (p.Leu227Pro)single nucleotide variantPathogenicrs111033846GRCh37Chr 9, 34648446: 34648446
226GALTNM_000155.3(GALT): c.815G> A (p.Arg272His)single nucleotide variantPathogenicrs111033831GRCh37Chr 9, 34648886: 34648886
227GALTNM_000155.3(GALT): c.247G> A (p.Gly83Arg)single nucleotide variantPathogenicrs111033660GRCh37Chr 9, 34647250: 34647250
228GALTM60091.1: c.772C> Tsingle nucleotide variantPathogenic
229GALTNM_000155.3(GALT): c.163G> T (p.Gly55Cys)single nucleotide variantPathogenicrs111033654GRCh37Chr 9, 34647166: 34647166
230GALTNM_000155.3(GALT): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
231GALTNM_000155.3(GALT): c.857A> G (p.Tyr286Cys)single nucleotide variantPathogenicrs367543262GRCh37Chr 9, 34649031: 34649031
232GALTNM_000155.3(GALT): c.220_221delCT (p.Leu74Valfs)deletionPathogenicrs111033662GRCh37Chr 9, 34647223: 34647224
233GALTNM_000155.3(GALT): c.398_399dupCC (p.Trp134Profs)duplicationPathogenicrs367543269GRCh37Chr 9, 34647849: 34647850
234GALTNM_000155.3(GALT): c.904+1G> Tsingle nucleotide variantPathogenicrs367543271GRCh37Chr 9, 34649079: 34649079
235GALTNM_000155.3(GALT): c.959C> T (p.Ala320Val)single nucleotide variantLikely pathogenicrs367543272GRCh37Chr 9, 34649461: 34649461
236GALTNM_000155.3(GALT): c.289_291delAAC (p.Asn97del)deletionLikely pathogenicrs398123179GRCh37Chr 9, 34647525: 34647527
237GALTNM_000155.3(GALT): c.508-1G> Csingle nucleotide variantPathogenicrs398123181GRCh37Chr 9, 34648111: 34648111
238GALTNM_000155.3(GALT): c.565_578delGTATGGGCCAGCAG (p.Val189Phefs)deletionPathogenicrs398123183GRCh37Chr 9, 34648331: 34648344
239GALTNM_000155.3(GALT): c.568T> C (p.Trp190Arg)single nucleotide variantLikely pathogenicrs398123184GRCh37Chr 9, 34648334: 34648334
240GALTNM_000155.3(GALT): c.688-2A> Csingle nucleotide variantPathogenicrs398123185GRCh37Chr 9, 34648757: 34648757
241GALTNM_000155.3(GALT): c.772C> T (p.Arg258Cys)single nucleotide variantPathogenicrs368166217GRCh37Chr 9, 34648843: 34648843
242GALTNM_000155.3(GALT): c.905-2A> Gsingle nucleotide variantPathogenicrs398123187GRCh37Chr 9, 34649405: 34649405
243GALTNM_000155.3(GALT): c.985T> C (p.Ser329Pro)single nucleotide variantLikely pathogenicrs398123188GRCh37Chr 9, 34649487: 34649487

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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GO Terms for genes affiliated with Galactosemia

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Biological processes related to Galactosemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1galactose catabolic processGO:001938810.1GALE, GALK1, GALT
2galactose metabolic processGO:00060129.9GALE, GALK1, GALT
3gluconeogenesisGO:00060949.8ALDOB, SLC25A13
4response to zinc ionGO:00100439.5ALDOB, BGLAP
5NADP metabolic processGO:00067398.8G6PD, NOX1
6response to organic cyclic compoundGO:00140708.8AMH, BGLAP, G6PD

Molecular functions related to Galactosemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.1G6PD, NOX1

Sources for Galactosemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet