MCID: GLC010
MIFTS: 42

Galactokinase Deficiency with Cataracts malady

Genetic diseases, Rare diseases, Eye diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Galactokinase Deficiency with Cataracts

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
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Aliases & Descriptions for Galactokinase Deficiency with Cataracts:

Name: Galactokinase Deficiency with Cataracts 49 11
Galactokinase Deficiency 10 45 47 12 51
Galk Deficiency 45 22 51
Galactokinase Deficiency Disease 22 24
Galactosemia Ii 10 67
Galactokinase Deficiency Galactosemia 51
 
Hereditary Galactokinase Deficiency 45
Deficiency of Galactokinase 65
Galactosemia Type 2 51
Galactosemia 2 45
Galk-D 51
Galct2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
galactokinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 230200
Disease Ontology10 DOID:14695
MeSH36 C535999
Orphanet51 79237
SNOMED-CT59 124302001, 18612007
UMLS via Orphanet66 C0268155, C0751158
ICD10 via Orphanet28 E74.2
MESH via Orphanet37 C535999
MedGen34 C0268155

Summaries for Galactokinase Deficiency with Cataracts

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NIH Rare Diseases:45 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 galactosemia and galactose epimerase deficiency, and has symptoms including cataract, autosomal recessive inheritance and cataract. An important gene associated with Galactokinase Deficiency with Cataracts is GALK1 (Galactokinase 1), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include liver and eye, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

OMIM:49 Galactokinase deficiency is an autosomal recessive disorder that causes cataract formation in children not maintained... (230200) more...

UniProtKB/Swiss-Prot:67 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

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1galactosemia30.3AKR1B1, GALE, GALK1, GALT
2galactose epimerase deficiency30.1GALE, GALK1, GALT
3cataract10.7
4pseudotumor cerebri10.2
5hyperinsulinism10.2
6cerebritis10.1
7retinitis10.1
8esophageal atresia/tracheoesophageal fistula10.0GALE, GALK1, GALT
9hyperimmunoglobulin syndrome9.9ABCC8, AKR1B1, SLC2A1
10cardiovascular organ benign neoplasm9.8ABCC8, GALE, GALK1, GALT
11usher syndrome, type 1g8.4ABCC8, AKR1B1, CYGB, GALE, GALK1, GALK2

Graphical network of diseases related to Galactokinase Deficiency with Cataracts:



Diseases related to galactokinase deficiency with cataracts

Symptoms for Galactokinase Deficiency with Cataracts

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Symptoms by clinical synopsis from OMIM:

230200

Clinical features from OMIM:

230200

Symptoms:

 51
  • cataract/lens opacification
  • metabolic anomalies
  • autosomal recessive inheritance

HPO human phenotypes related to Galactokinase Deficiency with Cataracts:

(show all 7)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 autosomal recessive inheritance HP:0000007
3 cataract HP:0000518
4 increased intracranial pressure HP:0002516
5 prolonged neonatal jaundice HP:0006579
6 galactosuria HP:0012023
7 hypergalactosemia HP:0012024

Drugs & Therapeutics for Galactokinase Deficiency with Cataracts

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Follicle Stimulating Hormone145

Interventional clinical trials:

idNameStatusNCT IDPhase
1Glycosylation in Patients With GalactosaemiaCompletedNCT02218632
2The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
3Intervention and Outcomes in Duarte GalactosemiaRecruitingNCT02519504
4Pregnancy Chances in Classic GalactosemiaRecruitingNCT02091128
5Inactive FSH in GalactosemiaActive, not recruitingNCT00619333

Search NIH Clinical Center for Galactokinase Deficiency with Cataracts

Genetic Tests for Galactokinase Deficiency with Cataracts

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Genetic tests related to Galactokinase Deficiency with Cataracts:

id Genetic test Affiliating Genes
1 Galactokinase Deficiency22 GALK1
2 Deficiency of Galactokinase24

Anatomical Context for Galactokinase Deficiency with Cataracts

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MalaCards organs/tissues related to Galactokinase Deficiency with Cataracts:

33
Liver, Eye

Animal Models for Galactokinase Deficiency with Cataracts or affiliated genes

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MGI Mouse Phenotypes related to Galactokinase Deficiency with Cataracts:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.3ABCC8, AKR1B1, CYGB, GALK1, GALT, MGMT

Publications for Galactokinase Deficiency with Cataracts

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Variations for Galactokinase Deficiency with Cataracts

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

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1GALK1p.Val32MetVAR_002547
2GALK1p.Pro28ThrVAR_008514
3GALK1p.Ala198ValVAR_015746rs80084721
4GALK1p.Gly36ArgVAR_023486
5GALK1p.His44TyrVAR_023487
6GALK1p.Arg68CysVAR_023488
7GALK1p.Arg239GlnVAR_023490
8GALK1p.Thr288MetVAR_023492
9GALK1p.Gly346SerVAR_023494
10GALK1p.Gly349SerVAR_023495
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

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

Pathways for genes affiliated with Galactokinase Deficiency with Cataracts

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GO Terms for genes affiliated with Galactokinase Deficiency with Cataracts

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.4AKR1B1, CYGB, GALE, GALK1, GALT, SLC2A1

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

idNameGO IDScoreTop Affiliating Genes
1carbohydrate phosphorylationGO:004683510.2GALK1, GALK2
2galactose catabolic processGO:001938810.2GALE, GALK1, GALT
3galactose metabolic processGO:00060129.6GALE, GALK1, GALK2, GALT
4carbohydrate metabolic processGO:00059758.0ABCC8, AKR1B1, GALE, GALK1, GALK2, GALT
5small molecule metabolic processGO:00442816.4ABCC8, AKR1B1, CYGB, GALE, GALK1, GALT

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

idNameGO IDScoreTop Affiliating Genes
1galactokinase activityGO:00043359.7GALK1, GALK2

Sources for Galactokinase Deficiency with Cataracts

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet