GALAC3
MCID: GLC112
MIFTS: 51

Galactosemia Iii (GALAC3)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Galactosemia Iii

MalaCards integrated aliases for Galactosemia Iii:

Name: Galactosemia Iii 57 12 73 6
Galactose Epimerase Deficiency 57 12 20 58 73 36 13 15 39
Gale Deficiency 57 12 25 20 58 73 54
Udp-Galactose-4-Epimerase Deficiency 57 12 74 20 58 73
Epimerase Deficiency Galactosemia 12 25 20 58
Uridine Diphosphate Galactose-4-Epimerase Deficiency 12 20 58
Galactosemia Type 3 12 20 58
Gale-D 12 20 58
Galactosemia 3 20 73
Galac3 57 73
Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency 58
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency 58
Generalized Udp-Galactose-4-Epimerase Deficiency 58
Erythrocyte Udp-Galactose-4-Epimerase Deficiency 58
Generalized Epimerase Deficiency Galactosemia 58
Erythrocyte Epimerase Deficiency Galactosemia 58
Generalized Galactose Epimerase Deficiency 58
Erythrocyte Galactose Epimerase Deficiency 58
Udp-Galactose-4'-Epimerase Deficiency 25
Generalized Gale Deficiency 58
Erythrocyte Gale Deficiency 58
Galactosemia Type Iii 25
Generalized Gale-D 58
Erythrocyte Gale-D 58
Galactosemias 44

Characteristics:

Orphanet epidemiological data:

58
galactose epimerase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)


HPO:

31
galactosemia iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Galactosemia Iii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79238DefinitionA very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.EpidemiologyOverall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known.Clinical descriptionThe disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose-containing formula, patients may develop hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening.EtiologyGalactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme.Genetic counselingGalactose epimerase deficiency is inherited in an autosomal recessive manner.PrognosisOccurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet.Visit the Orphanet disease page for more resources.

MalaCards based summary : Galactosemia Iii, also known as galactose epimerase deficiency, is related to galactosemia i and cataract. An important gene associated with Galactosemia Iii is GALE (UDP-Galactose-4-Epimerase), and among its related pathways/superpathways are Galactose metabolism and Glycosaminoglycan metabolism. The drugs Aspartic acid and N-Methylaspartate have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and nausea and vomiting

Disease Ontology : 12 A galactosemia that has material basis in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.

OMIM® : 57 Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocytes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder. For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). (230350) (Updated 05-Mar-2021)

KEGG : 36 Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed "peripheral type" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed "generalized type".

UniProtKB/Swiss-Prot : 73 Galactosemia 3: A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability.

Wikipedia : 74 Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood,... more...

GeneReviews: NBK51671

Related Diseases for Galactosemia Iii

Graphical network of the top 20 diseases related to Galactosemia Iii:



Diseases related to Galactosemia Iii

Symptoms & Phenotypes for Galactosemia Iii

Human phenotypes related to Galactosemia Iii:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
3 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
7 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
8 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
9 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
10 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
11 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
12 impairment of galactose metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004915
13 hypotonia 31 hallmark (90%) HP:0001252
14 failure to thrive 31 HP:0001508
15 muscular hypotonia 58 Very frequent (99-80%)
16 delayed speech and language development 31 HP:0000750
17 sensorineural hearing impairment 31 HP:0000407
18 vomiting 31 HP:0002013
19 delayed gross motor development 31 HP:0002194
20 generalized hypotonia 31 HP:0001290
21 galactosuria 31 HP:0012023
22 hypergalactosemia 31 HP:0012024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
aminoaciduria
galactosuria
galactosemia
udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

Neurologic Central Nervous System:
hypotonia
mental retardation
language delay
developmental delay, gross motor
cognitive delay

Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting

Skin Nails Hair Skin:
jaundice

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM®:

230350 (Updated 05-Mar-2021)

Drugs & Therapeutics for Galactosemia Iii

Drugs for Galactosemia Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
2 N-Methylaspartate Phase 2
3
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
4 Hormones
5 Hormone Antagonists
6 Follicle Stimulating Hormone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study Completed NCT03580122 Phase 2 Arginine Aspartate
2 A Phase 1-2, Dose-Escalating, 4-Part Study to Evaluate the Safety and Pharmacokinetics of Single and Multiple Doses of AT-007 in Healthy Adult Subjects and Adult Subjects With Classic Galactosemia Recruiting NCT04117711 Phase 1, Phase 2 AT-007;Placebo
3 The Role of Inactive Follicle Stimulating Hormone in Ovarian Dysfunction in Galactosemia Unknown status NCT00619333 follitropin and lutropin
4 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
5 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
6 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
7 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632
8 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016

Search NIH Clinical Center for Galactosemia Iii

Cochrane evidence based reviews: galactosemias

Genetic Tests for Galactosemia Iii

Anatomical Context for Galactosemia Iii

MalaCards organs/tissues related to Galactosemia Iii:

40
Eye, Liver

Publications for Galactosemia Iii

Articles related to Galactosemia Iii:

(show all 47)
# Title Authors PMID Year
1
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. 25 57 6
9326324 1997
2
Epimerase-deficiency galactosemia is not a binary condition. 57 25 54
16385452 2006
3
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. 57 25 54
9700591 1998
4
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 6 57
9538513 1998
5
Generalised uridine diphosphate galactose-4-epimerase deficiency. 57 25
10086948 1999
6
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. 25 57
9973283 1999
7
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. 25 57
6408303 1983
8
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. 57 25
7305435 1981
9
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. 57 25
1748 1975
10
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. 57 25
4644860 1972
11
Galactose metabolism and cell "sociology". 25 57
5319435 1965
12
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. 57 54
8593531 1995
13
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. 54 25
16302980 2005
14
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. 54 25
16301867 2005
15
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. 57
11279193 2001
16
UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. 57
8295413 1993
17
A patient with severe type of epimerase deficiency galactosaemia. 57
3141714 1988
18
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 57
3783336 1986
19
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. 57
3948246 1986
20
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 57
6549612 1983
21
Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. 57
6885800 1983
22
Prenatal determination of uridine diphosphate galactose-4-epimerase activity. 57
6844265 1983
23
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. 57
7318169 1981
24
Uridine diphosphate galactose 4-epimerase deficiency. 57
7227386 1981
25
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. 57
404274 1977
26
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. 57
4785150 1973
27
Developmental defects in a Caenorhabditis elegans model for type III galactosemia. 25
25298520 2014
28
An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency. 25
24732214 2014
29
Multiple phenotypes in phosphoglucomutase 1 deficiency. 25
24499211 2014
30
UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster. 25
22654673 2012
31
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. 25
21290184 2011
32
UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. 25
20519568 2010
33
Generalized epimerase deficiency galactosemia. 25
20725869 2010
34
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 25
11139256 2001
35
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. 25
11117433 2000
36
Novel mutations in 13 probands with galactokinase deficiency. 25
10790206 2000
37
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III. 61
33555556 2021
38
Screening for galactosemia: is there a place for it? 61
31213878 2019
39
Galactose Epimerase Deficiency: Expanding the Phenotype. 61
28247339 2017
40
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. 61
27466186 2016
41
The structural and molecular biology of type III galactosemia. 54
16611573 2006
42
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. 54
15639193 2005
43
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. 54
14970742 2004
44
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. 54
11258124 2001
45
Molecular basis of disorders of human galactose metabolism: past, present, and future. 54
11001796 2000
46
[UDP-galactose-4-epimerase deficiency]. 54
9589979 1998
47
Abnormalities of retinal metabolism in diabetes or experimental galactosemia. III. Effects of antioxidants. 61
8772728 1996

Variations for Galactosemia Iii

ClinVar genetic disease variations for Galactosemia Iii:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALE NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) SNV Pathogenic 3675 rs121908045 1:24123618-24123618 1:23797128-23797128
2 GALE NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) SNV Pathogenic 3677 rs28940882 1:24124689-24124689 1:23798199-23798199
3 GALE NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) SNV Pathogenic 3678 rs28940883 1:24124650-24124650 1:23798160-23798160
4 GALE NM_001008216.2(GALE):c.937C>A (p.Leu313Met) SNV Pathogenic 3680 rs3180383 1:24122692-24122692 1:23796202-23796202
5 GALE NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) SNV Pathogenic 21173 rs137853861 1:24122724-24122724 1:23796234-23796234
6 GALE NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) SNV Pathogenic 21171 rs137853859 1:24124208-24124208 1:23797718-23797718
7 GALE NM_001008216.2(GALE):c.749del (p.Gly250fs) Deletion Pathogenic 664655 rs1570630665 1:24123233-24123233 1:23796743-23796743
8 GALE NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) SNV Pathogenic 3676 rs121908046 1:24125397-24125397 1:23798907-23798907
9 GALE NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) SNV Likely pathogenic 984932 1:24125191-24125191 1:23798701-23798701
10 GALE NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) SNV Likely pathogenic 801458 rs1243531358 1:24124674-24124674 1:23798184-23798184
11 GALE NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) SNV Likely pathogenic 21172 rs137853860 1:24123267-24123267 1:23796777-23796777
12 GALE NM_001008216.2(GALE):c.280G>A (p.Val94Met) SNV Likely pathogenic 3682 rs121908047 1:24124678-24124678 1:23798188-23798188
13 GALE NM_001008216.2(GALE):c.330C>T (p.Thr110=) SNV Conflicting interpretations of pathogenicity 296837 rs377557637 1:24124628-24124628 1:23798138-23798138
14 GALE NM_001008216.2(GALE):c.423C>T (p.Tyr141=) SNV Conflicting interpretations of pathogenicity 296835 rs138518245 1:24124290-24124290 1:23797800-23797800
15 GALE NM_001008216.2(GALE):c.369G>A (p.Gly123=) SNV Conflicting interpretations of pathogenicity 296836 rs138148991 1:24124344-24124344 1:23797854-23797854
16 GALE NM_001008216.2(GALE):c.648G>A (p.Ala216=) SNV Uncertain significance 296830 rs144723215 1:24123427-24123427 1:23796937-23796937
17 GALE NM_001008216.2(GALE):c.*192T>C SNV Uncertain significance 296825 rs576468712 1:24122247-24122247 1:23795757-23795757
18 GALE NM_001008216.2(GALE):c.611T>C (p.Ile204Thr) SNV Uncertain significance 836418 1:24123555-24123555 1:23797065-23797065
19 GALE NM_001008216.2(GALE):c.812C>T (p.Thr271Met) SNV Uncertain significance 838412 1:24123060-24123060 1:23796570-23796570
20 GALE NM_001008216.2(GALE):c.31G>T (p.Ala11Ser) SNV Uncertain significance 845001 1:24125467-24125467 1:23798977-23798977
21 GALE NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) SNV Uncertain significance 199015 rs148834880 1:24123227-24123227 1:23796737-23796737
22 GALE NM_001008216.2(GALE):c.382G>A (p.Val128Met) SNV Uncertain significance 596687 rs778887800 1:24124331-24124331 1:23797841-23797841
23 GALE NM_001008216.2(GALE):c.376A>G (p.Asn126Asp) SNV Uncertain significance 854757 1:24124337-24124337 1:23797847-23797847
24 GALE NM_001008216.2(GALE):c.659G>C (p.Arg220Pro) SNV Uncertain significance 287623 rs756780233 1:24123416-24123416 1:23796926-23796926
25 GALE NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) SNV Uncertain significance 861930 1:24122751-24122751 1:23796261-23796261
26 GALE NM_001008216.2(GALE):c.874-9G>A SNV Uncertain significance 874173 1:24122764-24122764 1:23796274-23796274
27 GALE NM_001008216.2(GALE):c.97G>A (p.Asp33Asn) SNV Uncertain significance 167126 rs727503945 1:24125401-24125401 1:23798911-23798911
28 GALE NM_001008216.2(GALE):c.529-12C>T SNV Uncertain significance 875105 1:24123649-24123649 1:23797159-23797159
29 GALE NM_001008216.2(GALE):c.*178G>A SNV Uncertain significance 875984 1:24122261-24122261 1:23795771-23795771
30 GALE NM_001008216.2(GALE):c.*158G>A SNV Uncertain significance 875985 1:24122281-24122281 1:23795791-23795791
31 GALE NM_001008216.2(GALE):c.319G>A (p.Val107Ile) SNV Uncertain significance 876051 1:24124639-24124639 1:23798149-23798149
32 GALE NM_001008216.2(GALE):c.238-6C>T SNV Uncertain significance 876052 1:24124726-24124726 1:23798236-23798236
33 GALE NM_001008216.2(GALE):c.192G>A (p.Glu64=) SNV Uncertain significance 876053 1:24125150-24125150 1:23798660-23798660
34 GALE NM_001008216.2(GALE):c.-77+205C>G SNV Uncertain significance 876054 1:24126997-24126997 1:23800507-23800507
35 GALE NM_001008216.2(GALE):c.*69G>A SNV Uncertain significance 876964 1:24122370-24122370 1:23795880-23795880
36 GALE NM_001008216.2(GALE):c.*12T>G SNV Uncertain significance 876965 1:24122427-24122427 1:23795937-23795937
37 GALE NM_001008216.2(GALE):c.997C>A (p.Leu333Ile) SNV Uncertain significance 876966 1:24122489-24122489 1:23795999-23795999
38 GALE NM_001008216.2(GALE):c.989-13C>T SNV Uncertain significance 876967 1:24122510-24122510 1:23796020-23796020
39 GALE NM_001008216.2(GALE):c.988+7G>A SNV Uncertain significance 708263 rs200182186 1:24122634-24122634 1:23796144-23796144
40 GALE NM_001008216.2(GALE):c.-77+168T>G SNV Uncertain significance 877011 1:24127034-24127034 1:23800544-23800544
41 GALE NM_001008216.2(GALE):c.187G>C (p.Glu63Gln) SNV Uncertain significance 946352 1:24125155-24125155 1:23798665-23798665
42 GALE NM_001008216.2(GALE):c.713T>C (p.Val238Ala) SNV Uncertain significance 962791 1:24123269-24123269 1:23796779-23796779
43 GALE NM_001008216.2(GALE):c.710G>A (p.Gly237Asp) SNV Uncertain significance 596688 rs756944736 1:24123272-24123272 1:23796782-23796782
44 GALE NM_001008216.2(GALE):c.-77+340G>C SNV Uncertain significance 296838 rs568182391 1:24126862-24126862 1:23800372-23800372
45 GALE NM_001008216.2(GALE):c.447C>G (p.Pro149=) SNV Uncertain significance 296834 rs571625657 1:24124266-24124266 1:23797776-23797776
46 GALE NM_001008216.2(GALE):c.*327A>T SNV Uncertain significance 296824 rs535702110 1:24122112-24122112 1:23795622-23795622
47 GALE NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) SNV Uncertain significance 296827 rs780393850 1:24122706-24122706 1:23796216-23796216
48 GALE NM_001008216.2(GALE):c.873+13_873+14insA Insertion Uncertain significance 296829 rs765063773 1:24122985-24122986 1:23796495-23796496
49 GALE NM_001008216.2(GALE):c.450G>A (p.Thr150=) SNV Uncertain significance 296833 rs566884215 1:24124263-24124263 1:23797773-23797773
50 GALE NM_001008216.2(GALE):c.140A>C (p.Glu47Ala) SNV Uncertain significance 531729 rs367768055 1:24125202-24125202 1:23798712-23798712

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia Iii:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GALE p.Asn34Ser VAR_002539 rs121908046
2 GALE p.Gly90Glu VAR_002540 rs28940882
3 GALE p.Asp103Gly VAR_002541 rs28940883
4 GALE p.Leu183Pro VAR_002543 rs121908045
5 GALE p.Lys257Arg VAR_002544 rs28940884
6 GALE p.Leu313Met VAR_002545 rs3180383
7 GALE p.Gly319Glu VAR_002546 rs28940885
8 GALE p.Val94Met VAR_010058 rs121908047
9 GALE p.Ala25Val VAR_037733 rs143177292
10 GALE p.Arg40Cys VAR_037734 rs144492228
11 GALE p.Asp69Glu VAR_037735 rs126169796
12 GALE p.Glu165Lys VAR_037736 rs528467258
13 GALE p.Arg169Trp VAR_037737 rs137853859
14 GALE p.Arg239Trp VAR_037738 rs137853860
15 GALE p.Gly302Asp VAR_037739 rs137853861
16 GALE p.Arg335His VAR_037740 rs368637540

Expression for Galactosemia Iii

Search GEO for disease gene expression data for Galactosemia Iii.

Pathways for Galactosemia Iii

Pathways related to Galactosemia Iii according to KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

GO Terms for Galactosemia Iii

Cellular components related to Galactosemia Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.36 UGP2 UGDH UAP1 MTMR8 GALT GALK2
2 Golgi transport complex GO:0017119 9.16 COG2 COG1
3 trans-Golgi network membrane GO:0032588 9.13 COG2 COG1 AP1G1

Biological processes related to Galactosemia Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.63 UGDH GALT GALM GALK2 GALK1 GALE
2 intra-Golgi vesicle-mediated transport GO:0006891 9.43 COG2 COG1
3 galactose catabolic process GO:0019388 9.43 GALT GALK1 GALE
4 carbohydrate phosphorylation GO:0046835 9.4 GALK2 GALK1
5 UDP-glucuronate biosynthetic process GO:0006065 9.37 UGP2 UGDH
6 UDP-glucose metabolic process GO:0006011 9.32 UGP2 GALT
7 galactose catabolic process via UDP-galactose GO:0033499 9.13 GALT GALM GALE
8 galactose metabolic process GO:0006012 9.02 GALT GALM GALK2 GALK1 GALE

Molecular functions related to Galactosemia Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.5 UAP1 GALM CLC
2 nucleotidyltransferase activity GO:0016779 9.33 UGP2 UAP1 GALT
3 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.26 GALK2 GALK1
4 uridylyltransferase activity GO:0070569 8.96 UGP2 UAP1
5 galactokinase activity GO:0004335 8.62 GALK2 GALK1

Sources for Galactosemia Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....