MCID: GLC010
MIFTS: 45

Galactokinase Deficiency with Cataracts malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Galactokinase Deficiency with Cataracts

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Galactokinase Deficiency with Cataracts:

Name: Galactokinase Deficiency with Cataracts 50 12
Galactokinase Deficiency 50 11 46 23 13 52 48
Galk Deficiency 46 23 52
Galactosemia Ii 11 68
Galactokinase Deficiency Galactosemia 52
Hereditary Galactokinase Deficiency 46
 
Deficiency of Galactokinase 66
Galactosemia Type 2 52
Galactosemia 2 46
Galactosemias 37
Galk-D 52
Galct2 68

Characteristics:

Orphanet epidemiological data:

52
galactokinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
galactokinase deficiency with cataracts:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 230200
Disease Ontology11 DOID:14695
ICD1028 E74.29
MeSH37 D005693
NCIt43 C114767
SNOMED-CT60 124302001, 18612007
Orphanet52 ORPHA79237
ICD10 via Orphanet29 E74.2
MESH via Orphanet38 C535999
UMLS via Orphanet67 C0268155, C0751158
MedGen35 C0268155

Summaries for Galactokinase Deficiency with Cataracts

About this section
NIH Rare Diseases:46 Galactokinase deficiency, or galactosemia type 2, is a type of galactosemia that affects how the body processes a simple sugar called galactose.  a small amount of galactose is present in many foods. it is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. the signs and symptoms of galactosemia result from an inability to use galactose to produce energy. galactokinase deficiency causes fewer medical problems than the classic type. affected infants usually develop cataracts, but otherwise experience few long-term complications. this condition is caused by mutations in the galk1 gene and is inherited in an autosomal recessive fashion. last updated: 6/9/2011

MalaCards based summary: Galactokinase Deficiency with Cataracts, also known as galactokinase deficiency, is related to galactose epimerase deficiency and galactosemia, and has symptoms including cataract, cataract and increased intracranial pressure. An important gene associated with Galactokinase Deficiency with Cataracts is GALK1 (Galactokinase 1), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and African trypanosomiasis. Affiliated tissues include t cells, breast and eye, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:11 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

OMIM:50 Galactokinase deficiency is an autosomal recessive disorder that causes cataract formation in children not maintained... (230200) more...

UniProtKB/Swiss-Prot:68 Galactosemia II: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.

Related Diseases for Galactokinase Deficiency with Cataracts

About this section

Diseases related to Galactokinase Deficiency with Cataracts via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1galactose epimerase deficiency31.0GALK1, GALT
2galactosemia11.7
3fbln5-related cutis laxa10.6GALK1, GALT
4cataract10.4
5kidney papillary necrosis10.4ABCC8, GALK1, GALT
6spastic paraplegia 16, x-linked10.4HBA1, HBA2
7hyperlucent lung10.4ABCC8, HBA1
8parkinson disease type 310.4HBA1, HBA2
9hydrocephalus due to congenital stenosis of aqueduct of sylvius10.3HBA1, HBA2
10suppurative otitis media10.3AKR1B1, HBA2
11heinz body anemia10.3HBA1, HBA2
12gaba-transaminase deficiency10.3HBA1, HBA2
13balint syndrome10.3HBA1, HBA2
14malignant gastric germ cell tumor10.2HBA1, SLC2A1
15epidermolysis bullosa10.2HBA1, SLC2A1
16constrictive pericarditis10.2HBA1, HBA2
17ocular melanoma10.2HBA1, SLC2A1
18connective tissue benign neoplasm10.1HBA1, SLC2A1
19hypertrichosis10.1ABCC8, AKR1B1, SLC2A1
20papillary adenoma10.1HBA1, SLC2A1
21frontal sinus squamous cell carcinoma10.0HBA1, SLC2A1
22craniosynostosis and dental anomalies10.0GALK1, GALT
23glucosephosphate dehydrogenase deficiency10.0HBA1, HBA2
24opportunistic mycosis10.0AKR1B1, HBA1, HBA2
25supratentorial primitive neuroectodermal tumor10.0HBA1, SLC2A1
26hyperinsulinism9.9
27central nervous system vasculitis9.9HBA1, SLC2A1
28ovarian disease9.9HBA1, HBA2, XK
29survival motor neuron spinal muscular atrophy9.6ABCC8, HBA1, HBA2, XK
30femoral neuropathy9.3ABCC8, AKR1B1, HBA1, HBA2, XK
31hepatic adenoma, somatic8.8ABCC8, AKR1B1, HBA1, HBA2, SLC2A1, XK
32amelogenesis imperfecta, type ig5.9ABCC8, AKR1B1, CYGB, GALK1, GALK2, GALT

Graphical network of the top 20 diseases related to Galactokinase Deficiency with Cataracts:



Diseases related to galactokinase deficiency with cataracts

Symptoms for Galactokinase Deficiency with Cataracts

About this section

Symptoms by clinical synopsis from OMIM:

230200

Clinical features from OMIM:

230200

Symptoms:

 52
  • cataract
  • impairment of galactose metabolism

HPO human phenotypes related to Galactokinase Deficiency with Cataracts:

(show all 6)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 cataract HP:0000518
3 increased intracranial pressure HP:0002516
4 prolonged neonatal jaundice HP:0006579
5 galactosuria HP:0012023
6 hypergalactosemia HP:0012024

Drugs & Therapeutics for Galactokinase Deficiency with Cataracts

About this section

Drugs for Galactokinase Deficiency with Cataracts (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 Galactokinase Deficiency with Cataracts


Cochrane evidence based reviews: galactosemias

Genetic Tests for Galactokinase Deficiency with Cataracts

About this section

Genetic tests related to Galactokinase Deficiency with Cataracts:

id Genetic test Affiliating Genes
1 Galactokinase Deficiency23 GALK1

Anatomical Context for Galactokinase Deficiency with Cataracts

About this section

MalaCards organs/tissues related to Galactokinase Deficiency with Cataracts:

34
T cells, Breast, Eye

Animal Models for Galactokinase Deficiency with Cataracts or affiliated genes

About this section

MGI Mouse Phenotypes related to Galactokinase Deficiency with Cataracts:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.3ABCC8, AKR1B1, CYGB, GALK1, GALT, MGMT

Publications for Galactokinase Deficiency with Cataracts

About this section

Variations for Galactokinase Deficiency with Cataracts

About this section

UniProtKB/Swiss-Prot genetic disease variations for Galactokinase Deficiency with Cataracts:

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1GALK1p.Val32MetVAR_002547rs104894576
2GALK1p.Pro28ThrVAR_008514rs104894572
3GALK1p.Ala198ValVAR_015746rs80084721
4GALK1p.Gly36ArgVAR_023486
5GALK1p.His44TyrVAR_023487
6GALK1p.Arg68CysVAR_023488
7GALK1p.Arg239GlnVAR_023490rs575139300
8GALK1p.Thr288MetVAR_023492rs759284637
9GALK1p.Gly346SerVAR_023494rs375690568
10GALK1p.Gly349SerVAR_023495rs754967473
11GALK1p.Ala384ProVAR_023496

Clinvar genetic disease variations for Galactokinase Deficiency with Cataracts:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GALK1NM_000154.1(GALK1): c.94G> A (p.Val32Met)single nucleotide variantPathogenicrs104894576GRCh37Chr 17, 73761124: 73761124
2GALK1NM_000154.1(GALK1): c.238G> T (p.Glu80Ter)single nucleotide variantPathogenicrs104894577GRCh37Chr 17, 73760095: 73760095
3GALK1NM_000154.1(GALK1): c.82C> A (p.Pro28Thr)single nucleotide variantPathogenicrs104894572GRCh37Chr 17, 73761136: 73761136
4GALK1NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter)single nucleotide variantPathogenicrs111033608GRCh37Chr 17, 73754172: 73754172
5GALK1GALK1, 1-BP DEL, 761GdeletionPathogenic
6GALK1NM_000154.1(GALK1): c.593C> T (p.Ala198Val)single nucleotide variantPathogenicrs80084721GRCh37Chr 17, 73759113: 73759113

Expression for genes affiliated with Galactokinase Deficiency with Cataracts

About this section
Search GEO for disease gene expression data for Galactokinase Deficiency with Cataracts.

Pathways for genes affiliated with Galactokinase Deficiency with Cataracts

About this section

GO Terms for genes affiliated with Galactokinase Deficiency with Cataracts

About this section

Cellular components related to Galactokinase Deficiency with Cataracts according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:003183810.4HBA1, HBA2
2endocytic vesicle lumenGO:007168210.3HBA1, HBA2
3hemoglobin complexGO:000583310.2HBA1, HBA2
4cytosolic small ribosomal subunitGO:002262710.2HBA1, HBA2
5blood microparticleGO:00725629.5HBA1, HBA2, SLC2A1
6cytosolGO:00058297.0AKR1B1, CYGB, GALK1, GALT, HBA1, HBA2

Biological processes related to Galactokinase Deficiency with Cataracts according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1galactose catabolic processGO:001938810.5GALK1, GALT
2carbohydrate phosphorylationGO:004683510.4GALK1, GALK2
3hydrogen peroxide catabolic processGO:004274410.0HBA1, HBA2
4galactose metabolic processGO:00060129.9GALK1, GALK2, GALT
5positive regulation of cell deathGO:00109429.6HBA1, HBA2
6bicarbonate transportGO:00157019.5HBA1, HBA2
7cellular oxidant detoxificationGO:00988699.0CYGB, HBA1, HBA2
8oxygen transportGO:00156719.0CYGB, HBA1, HBA2

Molecular functions related to Galactokinase Deficiency with Cataracts according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1galactokinase activityGO:000433510.5GALK1, GALK2
2haptoglobin bindingGO:003172010.3HBA1, HBA2
3peroxidase activityGO:00046019.4CYGB, HBA1, HBA2
4oxygen transporter activityGO:00053449.4CYGB, HBA1, HBA2
5oxygen bindingGO:00198259.1CYGB, HBA1, HBA2
6iron ion bindingGO:00055068.8CYGB, HBA1, HBA2
7heme bindingGO:00200378.5CYGB, HBA1, HBA2

Sources for Galactokinase Deficiency with Cataracts

About this section
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