GALAC2
MCID: GLC111
MIFTS: 46

Galactosemia Ii (GALAC2)

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

Aliases & Classifications for Galactosemia Ii

MalaCards integrated aliases for Galactosemia Ii:

Name: Galactosemia Ii 56 12 73
Galactokinase Deficiency 56 12 74 52 58 36 54 15
Galactokinase Deficiency with Cataracts 56 13 6
Galk Deficiency 56 52 58
Galactokinase Deficiency Galactosemia 52 58
Deficiency of Galactokinase 29 6
Galactosemia Type 2 52 58
Galk-D 52 58
Hereditary Galactokinase Deficiency 52
Galactokinase Deficiency, Cataract 39
Galactosemia 2 52
Galac2 56
Galct2 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
distinct disorder from galactosemia


HPO:

31
galactosemia ii:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:14695
OMIM 56 230200
OMIM Phenotypic Series 56 PS230400
KEGG 36 H02009
MeSH 43 D005693
NCIt 49 C114767
SNOMED-CT 67 124302001
ICD10 32 E74.29
MESH via Orphanet 44 C535999
ICD10 via Orphanet 33 E74.2
UMLS via Orphanet 72 C0268155 C0751158
Orphanet 58 ORPHA79237
MedGen 41 C0268155
UMLS 71 C0268155

Summaries for Galactosemia Ii

NIH Rare Diseases : 52 Galactokinase deficiency (GALK), a mild type of galactosemia , is an inherited disorder that impairs the body's ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products, many baby formulas, and some fruits and vegetables. Children with GALK who are not treated with dietary therapy develop cataracts in the eyes, but otherwise they typically do not have long-term health problems. Rarely, a child with GALK will have pseudotumor cerebri , a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The severe medical problems that occur with "classic" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by mutations in the GALK1 gene and inheritance is autosomal recessive . The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing . The treatment is dietary therapy, which involves taking calcium supplements and restricting galactose in the diet throughout life to prevent cataracts. If cataracts develop, they usually resolve with dietary therapy. Children with GALK should have their growth monitored, and both children and adults should consult with a dietitian and have regular eye exams.

MalaCards based summary : Galactosemia Ii, also known as galactokinase deficiency, is related to galactosemia iii and galactosemia i. An important gene associated with Galactosemia Ii is GALK1 (Galactokinase 1), and among its related pathways/superpathways are Galactose metabolism and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include brain, eye and testes, and related phenotypes are cataract and impairment of galactose metabolism

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 : 56 Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). (230200)

KEGG : 36 Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the eye is converted in galactitol and causes ultimately cataracts. The condition can be treated by removal of galactose and lactose from the diet.

UniProtKB/Swiss-Prot : 73 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 : 74 Galactokinase deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of... more...

Related Diseases for Galactosemia Ii

Diseases in the Galactosemia I family:

Galactosemia Ii Galactosemia Iii
Galactosemia Iv

Diseases related to Galactosemia Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 galactosemia iii 30.4 GALT GALK1 GALE
2 galactosemia i 29.6 GALT GALK1 GALE CRYAA
3 cataract 27.2 TMEM114 SLC16A12 LIM2 GALT GALK1 GALE
4 autosomal recessive disease 10.4
5 axenfeld-rieger syndrome 10.2 CRYGS CRYAA
6 cataract 32, multiple types 10.2 TMEM114 CRYAA
7 intracranial hypertension, idiopathic 10.2
8 yemenite deaf-blind hypopigmentation syndrome 10.2
9 inherited metabolic disorder 10.2
10 hypoglycemia 10.2
11 classic galactosemia and clinical variant galactosemia 10.2
12 cataract 16, multiple types 10.2 TMEM114 CRYAA
13 morgagni cataract 10.1 CRYGS CRYAA
14 disuse amblyopia 10.1 CRYGS CRYAA
15 cataract 6, multiple types 10.1 TMEM114 CRYAA
16 mature cataract 10.1 CRYGS CRYAA
17 histidinemia 10.0
18 phenylketonuria 10.0
19 congenital cataracts, facial dysmorphism, and neuropathy 10.0
20 hyperinsulinemic hypoglycemia, familial, 5 10.0
21 hyperinsulinemic hypoglycemia, familial, 4 10.0
22 apraxia 10.0
23 microcephaly 10.0
24 hypogonadism 10.0
25 hyperinsulinism 10.0
26 homocystinuria 10.0
27 pathologic nystagmus 10.0
28 aminoaciduria 10.0
29 disorder of galactose metabolism 10.0
30 retinal perforation 10.0 CRYGS CRYAA
31 carbohydrate metabolic disorder 10.0 GALT GALK1 CRYAA
32 lens subluxation 10.0 GALT CRYAA
33 cataract 44 10.0 LIM2 CRYAA
34 diabetic cataract 10.0 CRYGS CRYAA
35 senile cataract 10.0 GALK1 CRYGS CRYAA
36 lowe oculocerebrorenal syndrome 9.9 GALK1 CRYAA
37 early-onset sutural cataract 9.9 CRYGS BFSP2
38 hyperglycemia 9.9
39 cataract 24 9.8 CRYBB3 CRYAA
40 early-onset nuclear cataract 9.8 CRYBB3 CRYAA
41 triosephosphate isomerase deficiency 9.8 CRYBB3 CRYAA
42 early-onset lamellar cataract 9.7 CRYGS CRYAA BFSP2
43 presbyopia 9.7 CRYGS CRYAA BFSP2
44 eye accommodation disease 9.7 CRYGS CRYAA BFSP2
45 posterior polar cataract 9.7 CRYGS CRYAA BFSP2
46 cataract 28 9.6 TMEM114 SLC16A12 LIM2 CRYAA
47 nance-horan syndrome 9.4 CRYBB3 CRYAA BFSP2
48 erythrokeratodermia variabilis et progressiva 1 9.4 CRYBB3 CRYAA
49 lens disease 9.3 CTDP1 CRYGS CRYAA BFSP2
50 amblyopia 9.1 CRYGS CRYBB3 CRYAA BFSP2

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



Diseases related to Galactosemia Ii

Symptoms & Phenotypes for Galactosemia Ii

Human phenotypes related to Galactosemia Ii:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 impairment of galactose metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004915
3 increased intracranial pressure 31 occasional (7.5%) HP:0002516
4 prolonged neonatal jaundice 31 HP:0006579
5 galactosuria 31 HP:0012023
6 hypergalactosemia 31 HP:0012024

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
galactosuria
galactosemia
decreased galactokinase activity

Neurologic Central Nervous System:
pseudotumor cerebri

Head And Neck Eyes:
cataracts, formation may be reversible with early dietary management

Clinical features from OMIM:

230200

GenomeRNAi Phenotypes related to Galactosemia Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.92 CRYAA GALK1 GALT SLC16A12

Drugs & Therapeutics for Galactosemia Ii

Search Clinical Trials , NIH Clinical Center for Galactosemia Ii

Genetic Tests for Galactosemia Ii

Genetic tests related to Galactosemia Ii:

# Genetic test Affiliating Genes
1 Deficiency of Galactokinase 29 GALK1

Anatomical Context for Galactosemia Ii

MalaCards organs/tissues related to Galactosemia Ii:

40
Brain, Eye, Testes, Kidney, Liver, Whole Blood, Cortex

Publications for Galactosemia Ii

Articles related to Galactosemia Ii:

(show top 50) (show all 103)
# Title Authors PMID Year
1
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 61 6 56 54
10521295 1999
2
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. 61 54 56 6
7670469 1995
3
Clinical features of galactokinase deficiency: a review of the literature. 56 54 61
12705493 2002
4
Novel mutations in 13 probands with galactokinase deficiency. 6 54 61
10790206 2000
5
Molecular characterization of galactokinase deficiency in Japanese patients. 61 54 56
10570908 1999
6
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. 6 54
11231902 2001
7
Galactokinase deficiency and mental retardation. 61 56
490246 1979
8
Galactokinase deficiency presenting as pseudotumor cerebri. 61 56
163306 1975
9
[The galactokinase deficiency in two human populations: Styria (Austria) and Franconia (Bavaria). A comparative investigation on gen frequency (author's transl)]. 56 61
4360413 1974
10
Galactokinase deficiency as a cause of cataracts. 56 61
4700553 1973
11
Galactokinase-deficiency cataracts in identical twins. 56 61
4644736 1972
12
Galactokinase deficiency: clinical and biochemical findings in a new kindred. 61 56
5034870 1972
13
Galactokinase deficiency and cataracts. 61 56
5036447 1972
14
Galactokinase deficiency in a newborn infant. 56 61
5129188 1971
15
Hereditary galactokinase deficiency. 61 56
5109408 1971
16
Detection of heterozygotes for galactokinase deficiency in a human population. 61 56
5715186 1968
17
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. 61 56
5695665 1968
18
Mutation history of the roma/gypsies. 6
15322984 2004
19
Human erythrocyte galactokinase: a population survey. 56
7129459 1982
20
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening. 54 61
20333764 2010
21
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]. 54 61
18410025 2008
22
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. 54 61
17517531 2007
23
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects. 61 54
15649629 2005
24
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. 61 54
15024738 2004
25
The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity. 61 54
12570032 2002
26
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. 54 61
11978884 2002
27
Galactokinase deficiency: a case report. 54 61
11859915 2002
28
Unusual presentation of galactosemia in a 4-month-old child. 61 54
11827309 2001
29
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 54 61
11139256 2001
30
Screening for galactosemia: Philippines experience. Newborn Screening Study Group. 54 61
11405207 1999
31
[Galactokinase deficiency]. 54 61
9589978 1998
32
Inherited metabolic diseases affecting the carrier. 61 54
9061562 1997
33
Fine structure of the human galactokinase GALK1 gene. 61 54
8908517 1996
34
Mouse galactokinase: isolation, characterization, and location on chromosome 11. 54 61
8717055 1995
35
The role of polyols in the pathophysiology of hypergalactosemia. 61 54
7671966 1995
36
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms. 61 54
8098071 1993
37
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. 54 61
1438294 1992
38
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency. 61 54
1859354 1991
39
Cataract and metabolic disease. 61 54
2122117 1990
40
Galactose disorders: an overview. 61 54
2122114 1990
41
Screening for galactosemia: is there a place for it? 61
31213878 2019
42
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. 61
29580649 2018
43
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). 61
29261178 2018
44
Cataract and early nystagmus due to galactokinase deficiency. 61
28429145 2017
45
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. 61
27466186 2016
46
Newborn screening for galactosemia: a 30-year single center experience. 61
25754754 2015
47
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. 61
22632133 2012
48
Galactokinase deficiency in a patient with congenital hyperinsulinism. 61
23430910 2012
49
Early cataract formation due to galactokinase deficiency: impact of newborn screening. 61
22154682 2011
50
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. 61
21290184 2011

Variations for Galactosemia Ii

ClinVar genetic disease variations for Galactosemia Ii:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALK1 NM_000154.2(GALK1):c.678del (p.Asn226fs)deletion Pathogenic 635166 rs1568395061 17:73758900-73758900 17:75762819-75762819
2 GALK1 NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)SNV Pathogenic 646613 17:73758812-73758812 17:75762731-75762731
3 GALK1 NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)SNV Pathogenic 863469 17:73760035-73760035 17:75763954-75763954
4 GALK1 NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)SNV Pathogenic 5629 rs104894577 17:73760095-73760095 17:75764014-75764014
5 GALK1 NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)SNV Pathogenic 5630 rs104894572 17:73761136-73761136 17:75765055-75765055
6 GALK1 NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)SNV Pathogenic 5631 rs111033608 17:73754172-73754172 17:75758091-75758091
7 GALK1 NM_000154.2(GALK1):c.761del (p.Ser254fs)deletion Pathogenic 5632 17:73758817-73758817 17:75762736-75762736
8 GALK1 NM_000154.2(GALK1):c.410dup (p.Gly138fs)duplication Pathogenic/Likely pathogenic 558402 rs767329054 17:73759465-73759466 17:75763384-75763385
9 GALK1 NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)SNV Likely pathogenic 551596 rs371517491 17:73754367-73754367 17:75758286-75758286
10 GALK1 NM_000154.2(GALK1):c.689_711dup (p.Val238fs)duplication Likely pathogenic 557995 rs1555748534 17:73758866-73758867 17:75762785-75762786
11 GALK1 NM_000154.2(GALK1):c.410del (p.Gly137fs)deletion Likely pathogenic 552633 rs767329054 17:73759466-73759466 17:75763385-75763385
12 GALK1 NM_000154.2(GALK1):c.944+1G>TSNV Likely pathogenic 554737 rs113464656 17:73754529-73754529 17:75758448-75758448
13 GALK1 NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)SNV Likely pathogenic 557265 rs1026685248 17:73754381-73754381 17:75758300-75758300
14 GALK1 NM_000154.2(GALK1):c.853_874del (p.Ile285fs)deletion Likely pathogenic 558505 rs770087254 17:73754600-73754621 17:75758519-75758540
15 GALK1 NM_000154.2(GALK1):c.612-1G>ASNV Likely pathogenic 555178 rs1555748556 17:73758967-73758967 17:75762886-75762886
16 GALK1 NM_000154.2(GALK1):c.100_101GC[3] (p.Pro35fs)short repeat Likely pathogenic 551180 rs771067891 17:73761114-73761115 17:75765033-75765034
17 GALK1 NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)SNV Likely pathogenic 555568 rs1555748940 17:73761139-73761139 17:75765058-75765058
18 GALK1 NM_000154.2(GALK1):c.1A>C (p.Met1Leu)SNV Likely pathogenic 556182 rs1311294794 17:73761217-73761217 17:75765136-75765136
19 GALK1 NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)SNV Likely pathogenic 803466 17:73759466-73759466 17:75763385-75763385
20 GALK1 NM_000154.2(GALK1):c.-22T>CSNV Conflicting interpretations of pathogenicity 803467 17:73761239-73761239 17:75765158-75765158
21 GALK1 NM_000154.2(GALK1):c.863C>T (p.Thr288Met)SNV Conflicting interpretations of pathogenicity 198048 rs759284637 17:73754611-73754611 17:75758530-75758530
22 GALK1 NM_000154.2(GALK1):c.593C>T (p.Ala198Val)SNV Conflicting interpretations of pathogenicity 5633 rs80084721 17:73759113-73759113 17:75763032-75763032
23 GALK1 NM_000154.2(GALK1):c.1044C>T (p.Phe348=)SNV Conflicting interpretations of pathogenicity 325225 rs372653001 17:73754354-73754354 17:75758273-75758273
24 GALK1 NM_000154.2(GALK1):c.746C>T (p.Ala249Val)SNV Conflicting interpretations of pathogenicity 325232 rs149825190 17:73758832-73758832 17:75762751-75762751
25 GALK1 NM_000154.2(GALK1):c.864G>C (p.Thr288=)SNV Conflicting interpretations of pathogenicity 703778 17:73754610-73754610 17:75758529-75758529
26 GALK1 NM_000154.2(GALK1):c.747G>A (p.Ala249=)SNV Conflicting interpretations of pathogenicity 767224 17:73758831-73758831 17:75762750-75762750
27 GALK1 NM_000154.2(GALK1):c.447G>A (p.Thr149=)SNV Conflicting interpretations of pathogenicity 766772 17:73759429-73759429 17:75763348-75763348
28 GALK1 NM_000154.2(GALK1):c.66G>A (p.Glu22=)SNV Conflicting interpretations of pathogenicity 767045 17:73761152-73761152 17:75765071-75765071
29 GALK1 NM_000154.2(GALK1):c.1152C>T (p.Ala384=)SNV Uncertain significance 892469 17:73754164-73754164 17:75758083-75758083
30 GALK1 NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)SNV Uncertain significance 892470 17:73754196-73754196 17:75758115-75758115
31 GALK1 NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)SNV Uncertain significance 892471 17:73754199-73754199 17:75758118-75758118
32 GALK1 NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)SNV Uncertain significance 889783 17:73754660-73754660 17:75758579-75758579
33 GALK1 NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)SNV Uncertain significance 889784 17:73758836-73758836 17:75762755-75762755
34 GALK1 NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)SNV Uncertain significance 891331 17:73759221-73759221 17:75763140-75763140
35 GALK1 NM_000154.2(GALK1):c.396A>G (p.Ser132=)SNV Uncertain significance 891332 17:73759480-73759480 17:75763399-75763399
36 GALK1 NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)SNV Uncertain significance 891333 17:73760044-73760044 17:75763963-75763963
37 GALK1 NM_000154.2(GALK1):c.267G>T (p.Gln89His)SNV Uncertain significance 891334 17:73760066-73760066 17:75763985-75763985
38 GALK1 NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)SNV Uncertain significance 891335 17:73760130-73760130 17:75764049-75764049
39 GALK1 NM_000154.2(GALK1):c.-27A>CSNV Uncertain significance 892524 17:73761244-73761244 17:75765163-75765163
40 GALK1 NM_000154.2(GALK1):c.94G>A (p.Val32Met)SNV Uncertain significance 5628 rs104894576 17:73761124-73761124 17:75765043-75765043
41 GALK1 NM_000154.2(GALK1):c.-33_-20dupduplication Uncertain significance 553861 rs1555748974 17:73761236-73761237 17:75765155-75765156
42 GALK1 NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)SNV Uncertain significance 556951 rs536209426 17:73761102-73761102 17:75765021-75765021
43 GALK1 NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)SNV Uncertain significance 552552 rs959842362 17:73754653-73754653 17:75758572-75758572
44 GALK1 NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)deletion Uncertain significance 557909 rs759412123 17:73753146-73753167 17:75757065-75757086
45 GALK1 NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)SNV Uncertain significance 553609 rs1365349586 17:73760131-73760131 17:75764050-75764050
46 GALK1 NM_000213.5(ITGB4):c.5218+2T>CSNV Uncertain significance 552889 rs780675808 17:73753190-73753190 17:75757109-75757109
47 GALK1 NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter)SNV Uncertain significance 556196 rs1443010160 17:73753517-73753517 17:75757436-75757436
48 GALK1 NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)SNV Uncertain significance 553541 rs754967473 17:73754353-73754353 17:75758272-75758272
49 GALK1 NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs)deletion Uncertain significance 555296 rs1555746537 17:73753307-73753311 17:75757226-75757230
50 GALK1 NM_000154.2(GALK1):c.1012dup (p.Val338fs)duplication Uncertain significance 551344 rs1555747776 17:73754385-73754386 17:75758304-75758305

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

73 (show all 11)
# 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 rs155574892
6 GALK1 p.Arg68Cys VAR_023488 rs136534958
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 rs118440683

Expression for Galactosemia Ii

Search GEO for disease gene expression data for Galactosemia Ii.

Pathways for Galactosemia Ii

Pathways related to Galactosemia Ii according to KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

GO Terms for Galactosemia Ii

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 CRYGS CRYBB3 CRYAA BFSP2
2 carbohydrate metabolic process GO:0005975 9.54 GALT GALK1 GALE
3 lens development in camera-type eye GO:0002088 9.43 LIM2 CRYGS CRYBB3
4 galactose metabolic process GO:0006012 9.33 GALT GALK1 GALE
5 galactose catabolic process GO:0019388 9.13 GALT GALK1 GALE
6 galactose catabolic process via UDP-galactose GO:0033499 8.8 GALT GALK1 GALE

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.02 LIM2 CRYGS CRYBB3 CRYAA BFSP2

Sources for Galactosemia Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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