Galactokinase Deficiency with Cataracts (GALCT2) malady

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

Aliases & Classifications for Galactokinase Deficiency with Cataracts

Aliases & Descriptions for Galactokinase Deficiency with Cataracts:

Name: Galactokinase Deficiency with Cataracts 54 13
Galactokinase Deficiency 54 12 50 24 56 52 14
Galk Deficiency 50 24 56
Galactosemia Ii 12 66
Galactosemias 42 69
Galactokinase Deficiency Galactosemia 56
Hereditary Galactokinase Deficiency 50
Deficiency of Galactokinase 69
Galactosemia Type 2 56
Galactosemia 2 50
Galk-D 56
Galct2 66


Orphanet epidemiological data:

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


galactokinase deficiency with cataracts:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 54 230200
Disease Ontology 12 DOID:14695
ICD10 33 E74.29
MeSH 42 D005693
NCIt 47 C114767
SNOMED-CT 64 124302001 18612007
Orphanet 56 ORPHA79237
MESH via Orphanet 43 C535999
UMLS via Orphanet 70 C0268155 C0751158
ICD10 via Orphanet 34 E74.2
MedGen 40 C0268155
UMLS 69 C0268155

Summaries for Galactokinase Deficiency with Cataracts

NIH Rare Diseases : 50 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, impairment of galactose metabolism and increased intracranial pressure. An important gene associated with Galactokinase Deficiency with Cataracts is GALK1 (Galactokinase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Emtricitabine and Tenofovir have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

OMIM : 54 Galactokinase deficiency is an autosomal recessive disorder that causes cataract formation in children not maintained... (230200) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal... more...

Related Diseases for Galactokinase Deficiency with Cataracts

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

id Related Disease Score Top Affiliating Genes
1 galactose epimerase deficiency 30.7 GALE GALK1 GALT
2 galactosemia 11.8
3 cataract 10.3
4 anuria 10.0 GALK1 GALT
5 hyperinsulinism 9.8
6 familial monosomy 7 syndrome 9.6 GALE GALK1 GALT
7 leukemia, acute lymphoblastic 3 9.5 GALE GALK1 GALT SLC25A13
8 amelogenesis imperfecta, type ig 9.2 AKR1B1 GALE GALK1 GALT SLC25A13

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

Diseases related to Galactokinase Deficiency with Cataracts

Symptoms & Phenotypes for Galactokinase Deficiency with Cataracts

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Galactokinase Deficiency with Cataracts:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 Very frequent (99-80%) HP:0000518
2 impairment of galactose metabolism 56 32 Very frequent (99-80%) HP:0004915
3 increased intracranial pressure 32 HP:0002516
4 prolonged neonatal jaundice 32 HP:0006579
5 galactosuria 32 HP:0012023
6 hypergalactosemia 32 HP:0012024

GenomeRNAi Phenotypes related to Galactokinase Deficiency with Cataracts according to GeneCards Suite gene sharing:

id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.44 AKR1B1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.44 AKR1B1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.44 GALE AKR1B1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.44 AKR1B1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 GALE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.44 GALE
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.44 GALE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.44 GALE
9 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.44 AKR1B1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.44 AKR1B1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 AKR1B1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.44 GALE

Drugs & Therapeutics for Galactokinase Deficiency with Cataracts

Drugs for Galactokinase Deficiency with Cataracts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Emtricitabine Approved, Investigational Phase 4,Phase 2 143491-57-0 60877
Tenofovir Approved, Investigational Phase 4,Phase 2 147127-20-6 464205
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
Maraviroc Approved, Investigational Phase 4,Phase 2 376348-65-1 3002977
7 Anti-HIV Agents Phase 4,Phase 2
8 Anti-Infective Agents Phase 4,Phase 2
9 Anti-Retroviral Agents Phase 4,Phase 2
10 Antiviral Agents Phase 4,Phase 2
11 HIV Integrase Inhibitors Phase 4
12 Integrase Inhibitors Phase 4
13 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
14 Raltegravir Potassium Phase 4
15 Reverse Transcriptase Inhibitors Phase 4,Phase 2
16 Cytochrome P-450 CYP3A Inhibitors Phase 4
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18 HIV Protease Inhibitors Phase 4
protease inhibitors Phase 4
20 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
21 Cytochrome P-450 CYP3A Inducers Phase 4
22 Acidophilus Nutraceutical Phase 3
23 glutamine Nutraceutical Phase 1, Phase 2
Vedolizumab Approved Phase 1 943609-66-3
25 Antibodies Phase 1
26 Antibodies, Monoclonal Phase 1
27 Gastrointestinal Agents Phase 1
28 Immunoglobulins Phase 1
Enfuvirtide Approved, Investigational 159519-65-0 16130199
Menthol Approved 2216-51-5 16666
31 Follicle Stimulating Hormone
32 Hormone Antagonists
33 Hormones
34 Hormones, Hormone Substitutes, and Hormone Antagonists
35 Cola Nutraceutical

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 HIV Persistence and Viral Reservoirs Unknown status NCT01025427 Phase 4
2 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4
3 A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc Therapy Completed NCT00870363 Phase 4
4 Fermented Milk and Fermented Rice on the Appearance of Respiratory and Gastrointestinal Symptoms Completed NCT01909128 Phase 3
5 Randomized Placebo-controlled Pilot Trial of Prebiotics+Glutamine in HIV Infection Completed NCT01838915 Phase 1, Phase 2
6 Evaluating 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 Women Completed NCT01505114 Phase 2
7 Vedolizumab (Anti-alpha4beta7) in Subjects With HIV Infection Undergoing Analytical Treatment Interruption Recruiting NCT02788175 Phase 1
8 Inactive FSH in Galactosemia Unknown status NCT00619333
9 The Role of Human Milk in Development of Breast Fed Child's Intestinal Microbiota Unknown status NCT01548313
10 Glycosylation in Patients With Galactosaemia Completed NCT02218632
11 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
12 Gut Associated Lymphatic Tissue (GALT) in HIV (Human Immunodeficiency Virus)- Infected Patients Completed NCT01679067
13 Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 Study Completed NCT01038401
14 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
15 Pilot Project of Virologic and Immunologic Correlates of GALT Immune Reconstitution Following Raltegravir Therapy Completed NCT00661960
16 Impact of Pre-ART Blood CD4+ T Cell Level on the Rectal Reservoir in Long-term HIV-1 Treated Men Completed NCT02526940
17 Fuzeon Viral Decay Pilot Study Completed NCT00334022
18 Intervention and Outcomes in Duarte Galactosemia Recruiting NCT02519504
19 Gut-Associated Lymphocyte Trafficking Recruiting NCT02906137
20 Predictors of Time to Viremia With an Analytic Treatment Interruption Recruiting NCT03033017
21 HIV Eradication Through Cord-blood Transplantation Recruiting NCT02923076
22 Evaluation of Hypoallergenicity of a New Extensively Hydrolyzed Formula Recruiting NCT02450643
23 The Lymphoid Tissue Pharmacology of Antiretroviral Drugs Not yet recruiting NCT02707926
24 Raltegravir Activity In Lymphoid Tissues Withdrawn NCT00863668

Search NIH Clinical Center for Galactokinase Deficiency with Cataracts

Cochrane evidence based reviews: galactosemias

Genetic Tests for Galactokinase Deficiency with Cataracts

Genetic tests related to Galactokinase Deficiency with Cataracts:

id Genetic test Affiliating Genes
1 Galactokinase Deficiency 24 GALK1

Anatomical Context for Galactokinase Deficiency with Cataracts

MalaCards organs/tissues related to Galactokinase Deficiency with Cataracts:


Publications for Galactokinase Deficiency with Cataracts

Variations for Galactokinase Deficiency with Cataracts

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 GALK1 p.Val32Met VAR_002547 rs104894576
2 GALK1 p.Pro28Thr VAR_008514 rs104894572
3 GALK1 p.Ala198Val VAR_015746 rs80084721
4 GALK1 p.Gly36Arg VAR_023486
5 GALK1 p.His44Tyr VAR_023487
6 GALK1 p.Arg68Cys VAR_023488
7 GALK1 p.Arg239Gln VAR_023490 rs575139300
8 GALK1 p.Thr288Met VAR_023492 rs759284637
9 GALK1 p.Gly346Ser VAR_023494 rs375690568
10 GALK1 p.Gly349Ser VAR_023495 rs754967473
11 GALK1 p.Ala384Pro VAR_023496

ClinVar genetic disease variations for Galactokinase Deficiency with Cataracts:

id Gene Variation Type Significance SNP ID Assembly Location
1 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Pathogenic rs104894576 GRCh37 Chromosome 17, 73761124: 73761124
2 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh37 Chromosome 17, 73760095: 73760095
3 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh37 Chromosome 17, 73761136: 73761136
4 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh37 Chromosome 17, 73754172: 73754172
5 GALK1 GALK1, 1-BP DEL, 761G deletion Pathogenic
6 GALK1 NM_000154.1(GALK1): c.593C> T (p.Ala198Val) single nucleotide variant Pathogenic rs80084721 GRCh37 Chromosome 17, 73759113: 73759113

Expression for Galactokinase Deficiency with Cataracts

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

Pathways for Galactokinase Deficiency with Cataracts

GO Terms for Galactokinase Deficiency with Cataracts

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.46 AKR1B1 GALE GALK1 GALT
2 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
3 galactose catabolic process GO:0019388 8.8 GALE GALK1 GALT

Sources for Galactokinase Deficiency with Cataracts

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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