MCID: CLS031
MIFTS: 17

Classic Galactosemia and Clinical Variant Galactosemia

Aliases & Classifications for Classic Galactosemia and Clinical Variant Galactosemia

MalaCards integrated aliases for Classic Galactosemia and Clinical Variant Galactosemia:

Name: Classic Galactosemia and Clinical Variant Galactosemia 24
Galactose-1-Phosphate Uridylyltranserase Deficiency 24
Classical Galactosemia 72
Galt Deficiency 24

External Ids:

UMLS 72 C0268151

Summaries for Classic Galactosemia and Clinical Variant Galactosemia

MalaCards based summary : Classic Galactosemia and Clinical Variant Galactosemia, also known as galactose-1-phosphate uridylyltranserase deficiency, is related to duarte variant galactosemia and galactosemia, and has symptoms including vomiting and diarrhea. An important gene associated with Classic Galactosemia and Clinical Variant Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase). Affiliated tissues include testes, bone and skeletal muscle.

GeneReviews: NBK1518

Related Diseases for Classic Galactosemia and Clinical Variant Galactosemia

Diseases related to Classic Galactosemia and Clinical Variant Galactosemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 duarte variant galactosemia 11.5
2 galactosemia 10.2
3 apraxia 10.2
4 amenorrhea 10.2
5 cataract 10.2
6 childhood apraxia of speech 10.2
7 galactokinase deficiency 10.1
8 cerebellar hypoplasia 10.0
9 ataxia and polyneuropathy, adult-onset 10.0
10 aceruloplasminemia 10.0
11 autosomal recessive disease 10.0
12 hypogonadism 10.0
13 carbohydrate metabolic disorder 10.0
14 dystonia 10.0
15 hypogonadotropism 10.0
16 learning disability 10.0
17 tremor 10.0

Graphical network of the top 20 diseases related to Classic Galactosemia and Clinical Variant Galactosemia:



Diseases related to Classic Galactosemia and Clinical Variant Galactosemia

Symptoms & Phenotypes for Classic Galactosemia and Clinical Variant Galactosemia

UMLS symptoms related to Classic Galactosemia and Clinical Variant Galactosemia:


vomiting, diarrhea

Drugs & Therapeutics for Classic Galactosemia and Clinical Variant Galactosemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632

Search NIH Clinical Center for Classic Galactosemia and Clinical Variant Galactosemia

Genetic Tests for Classic Galactosemia and Clinical Variant Galactosemia

Anatomical Context for Classic Galactosemia and Clinical Variant Galactosemia

MalaCards organs/tissues related to Classic Galactosemia and Clinical Variant Galactosemia:

41
Testes, Bone, Skeletal Muscle

Publications for Classic Galactosemia and Clinical Variant Galactosemia

Articles related to Classic Galactosemia and Clinical Variant Galactosemia:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Galactosemia: when is it a newborn screening emergency? 38 4
22483615 2012
2
The adult galactosemic phenotype. 38 4
21779791 2012
3
Ovarian function in girls and women with GALT-deficiency galactosemia. 38 4
20978943 2011
4
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? 38 4
21246399 2011
5
Gonadal function in male and female patients with classic galactosemia. 38 4
19793842 2010
6
Identification of novel mutations in classical galactosemia. 38 4
15841485 2005
7
The molecular biology of galactosemia. 38 4
11261429 1998
8
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. 4
27858262 2017
9
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. 4
27005423 2016
10
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. 4
25681083 2015
11
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. 4
23319291 2013
12
The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. 4
23053469 2013
13
Fertility preservation in female classic galactosemia patients. 4
23866841 2013
14
Movement disorders in adult patients with classical galactosemia. 4
23400815 2013
15
Skeletal health in adult patients with classic galactosemia. 4
22525982 2013
16
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment. 4
22870861 2013
17
Motor and speech disorders in classic galactosemia. 4
23546812 2013
18
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia. 4
22447152 2012
19
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. 4
22133299 2012
20
A rare galactosemia complication: vitreous hemorrhage. 4
23430922 2012
21
Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. 4
21501963 2011
22
Problems with the new born screen for galactosaemia. 4
22693313 2011
23
FSH isoform pattern in classic galactosemia. 4
20814826 2011
24
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. 4
21290186 2011
25
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. 4
21347587 2011
26
Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors. 4
20696150 2010
27
The neuropsychological profile of galactosaemia. 4
20607611 2010
28
Longitudinal assessment of intellectual achievement in patients with classical galactosemia. 4
20100763 2010
29
Long-term speech and language developmental issues among children with Duarte galactosemia. 4
19904210 2009
30
Negative screening tests in classical galactosaemia caused by S135L homozygosity. 4
19418241 2009
31
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. 4
18976948 2008
32
ARHI: A new target of galactose toxicity in Classic Galactosemia. 4
19122833 2008
33
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. 4
17486650 2007
34
Growth in treated classical galactosemia patients. 4
17024348 2007
35
Untreated classical galactosemia patient with mild phenotype. 4
16621642 2006
36
Effect of calcium, vitamins K1 and D3 on bone in galactosemia. 4
16782422 2006
37
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. 4
17079880 2006
38
Prevention of a molecular misdiagnosis in galactosemia. 4
16540753 2006
39
Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. 4
16418384 2006
40
Galactosaemia: early treatment with an elemental formula. 4
15877205 2005
41
High tolerance for oral galactose in classical galactosaemia: dietary implications. 4
15499058 2004
42
Living with classical galactosemia: health-related quality of life consequences. 4
15121984 2004
43
Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report. 4
15202737 2004
44
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. 4
14728988 2004
45
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. 4
14728989 2004
46
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. 4
14614623 2003
47
A woman with untreated galactosaemia. 4
12927432 2003
48
Verbal dyspraxia and galactosemia. 4
12595586 2003
49
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G). 4
12872845 2003
50
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. 4
12350230 2002

Variations for Classic Galactosemia and Clinical Variant Galactosemia

Expression for Classic Galactosemia and Clinical Variant Galactosemia

Search GEO for disease gene expression data for Classic Galactosemia and Clinical Variant Galactosemia.

Pathways for Classic Galactosemia and Clinical Variant Galactosemia

GO Terms for Classic Galactosemia and Clinical Variant Galactosemia

Sources for Classic Galactosemia and Clinical Variant Galactosemia

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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