MCID: GLC010
MIFTS: 32

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:
45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 20GeneTests, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Galactokinase Deficiency with Cataracts, Aliases & Descriptions:

Name: Galactokinase Deficiency with Cataracts 45 10
Galactokinase Deficiency 45 9 41 11 43 47
Galactokinase Deficiency Galactosemia 41 47
Galactokinase Deficiency Disease 20 22
Galactosemia Type 2 41 47
Galk Deficiency 41 47
 
Galk-D 41 47
Hereditary Galactokinase Deficiency 41
Deficiency of Galactokinase 60
Galactosemia Ii 9
Galactosemia 2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
galactokinase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 230200
Disease Ontology9 DOID:14695
MeSH33 C535999
Orphanet47 79237
SNOMED-CT55 124302001, 18612007
MESH via Orphanet34 C535999
ICD10 via Orphanet26 E74.2
UMLS via Orphanet61 C0268155, C0751158

Summaries for Galactokinase Deficiency with Cataracts

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NIH Rare Diseases:41 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 cataract and galactosemia, and has symptoms including cataract, abnormality of metabolism/homeostasis and autosomal recessive inheritance. An important gene associated with Galactokinase Deficiency with Cataracts is GALK1 (galactokinase 1). Affiliated tissues include eye and liver.

Disease Ontology:9 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

OMIM:45 Galactokinase deficiency is an autosomal recessive disorder which causes cataract formation in children not maintained... (230200) more...

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:

idRelated DiseaseScoreTop Affiliating Genes
1cataract10.6
2galactosemia10.5
3hyperinsulinism10.2
4pseudotumor cerebri10.2
5mental retardation10.2
6galactose epimerase deficiency10.1
7cerebritis10.1
8retinitis10.1

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:

 47
  • cataract/lens opacification
  • metabolic anomalies
  • autosomal recessive inheritance

HPO human phenotypes related to Galactokinase Deficiency with Cataracts:

(show all 8)
id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
3 autosomal recessive inheritance HP:0000007
4 cataract HP:0000518
5 increased intracranial pressure HP:0002516
6 prolonged neonatal jaundice HP:0006579
7 galactosuria HP:0012023
8 hypergalactosemia HP:0012024

Drugs & Therapeutics for Galactokinase Deficiency with Cataracts

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Drug clinical trials:

Search ClinicalTrials for Galactokinase Deficiency with Cataracts

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 Deficiency20 GALK1
2 Deficiency of Galactokinase22

Anatomical Context for Galactokinase Deficiency with Cataracts

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MalaCards organs/tissues related to Galactokinase Deficiency with Cataracts:

31
Eye, Liver

Animal Models for Galactokinase Deficiency with Cataracts or affiliated genes

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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:

62 (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:

6
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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Compounds 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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Products for genes affiliated with Galactokinase Deficiency with Cataracts

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  • Antibodies
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  • Kits and Assays

Sources for Galactokinase Deficiency with Cataracts

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet