MCID: GLC006
MIFTS: 67

Galactosemia malady

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

Aliases & Classifications for Galactosemia

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Aliases & Descriptions for Galactosemia:

Name: Galactosemia 52 11 71 48 24 25 70 27 12 13
Galt Deficiency 48 24 25 54 70
Galactose-1-Phosphate Uridyltransferase Deficiency 48 24 54
Classic Galactosemia 24 25 54
Galactokinase Deficiency Disease 25 27
Classical Galactosemia 50 68
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 25
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridylyltransferase Deficiency 70
Udp-Galactose-4-Epimerase Deficiency Disease 25
Udpglucose 4-Epimerase Deficiency Disease 68
Epimerase Deficiency Galactosemia 25
 
Galactose Epimerase Deficiency 25
Deficiency of Galactokinase 68
Udp Galactose-4-Epimerase 12
Galactosemia, Classic 48
Galactose Intolerance 11
Galactosemia Type 1 54
Galk Deficiency 25
Gale Deficiency 25
Galactosaemia 11
Galactosemias 68
Galct 70

Characteristics:

Orphanet epidemiological data:

54
galt deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile

HPO:

64
galactosemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 230400
Disease Ontology11 DOID:9870
ICD1030 E74.21
ICD9CM32 271.1
MeSH39 D005693
NCIt45 C84723
Orphanet54 ORPHA79239
ICD10 via Orphanet31 E74.2
UMLS via Orphanet69 C0268151

Summaries for Galactosemia

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NIH Rare Diseases:48 Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood. Galactose is found in milk and all foods that contain milk. Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT), is either missing or not working properly. Without enough GALT enzyme activity, galactose cannot be changed to glucose so it builds up in the blood in large amounts. There are different types of galactosemia: classic galactosemia (also known as type I, is the most common and most severe form of the condition), galactosemia type II (also called galactokinase deficiency), and type III (also called galactose epimerase deficiency). The different types of galactosemia are caused by mutations in the GALT, GALE, and GALK1 genes. The condition is inherited in an autosomal recessive fashion. Last updated: 6/25/2015

MalaCards based summary: Galactosemia, also known as galt deficiency, is related to galactose epimerase deficiency and duarte variant galactosemia, and has symptoms including weight loss, reduced bone mineral density and reduced consciousness/confusion. An important gene associated with Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways are Amino sugar and nucleotide sugar metabolism and LDL Oxidation in Atherogenesis. Affiliated tissues include liver, testes and bone, and related mouse phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and mortality/aging.

UniProtKB/Swiss-Prot:70 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Genetics Home Reference:25 Galactosemia is a disorder 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.

OMIM:52 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal... (230400) more...

Disease Ontology:11 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

Wikipedia:71 Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Related Diseases for Galactosemia

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1galactose epimerase deficiency33.4GALE, GALK1, GALT
2duarte variant galactosemia12.3
3epimerase deficiency galactosemia12.0
4classic galactosemia and clinical variant galactosemia11.9
5galactokinase deficiency with cataracts11.8
6generalized galactose epimerase deficiency10.8
7erythrocyte galactose epimerase deficiency10.8
8fbln5-related cutis laxa10.5GALE, GALK1, GALT
9malignant visceral pleura tumor10.3GIF, TF
10ovarian cystic teratoma10.3BGLAP, GIF, TF
11microphthalmia, syndromic 1310.2G6PC, G6PD
12amelogenesis imperfecta, type ig10.2AKR1B1, GALK1, GALT
13dystonia 17, torsion, autosomal recessive10.1CASP1, IL1B
14retinitis10.1
15lymphocele10.1CASP1, IL1B
16familial cold-induced inflammatory syndrome 110.0CASP1, IL1B
17phenylketonuria10.0
18gemistocytic astrocytoma10.0BGLAP, IL1B, TF
19cerebritis10.0
20autoimmune polyendocrine syndrome9.9CD36, IL1B
21fanconi-bickel syndrome9.9
22pancreatic steatorrhea9.9ALDOB, GIF
23mental retardation, autosomal recessive 359.9BGLAP, CD36
24cataract9.9
25hepatitis9.9
26hypothyroidism9.9
27hypogonadism9.9
28femoral neuropathy9.8AKR1B1, G6PC, IL1B
29fructose intolerance9.8
30premature ovarian failure9.8
31hemochromatosis9.8
32congenital hypothyroidism9.8
33siderosis9.8
34hyperglycemia9.8
35alexander disease9.8ALDOB, G6PC, GALK1
36biotinidase deficiency9.7
37cholestasis9.7
38biliary atresia9.7
39endotheliitis9.7
40friedreich ataxia9.7
41myopia9.7
42kidney papillary necrosis9.6ALDOB, G6PC, GALK1, GALT
43schizophrenia9.6
44cystathioninuria9.6
45peters anomaly9.6
46cystic fibrosis9.6
47cryptorchidism9.6
48diabetic neuropathy9.6
49hemophagocytic lymphohistiocytosis9.6
50hepatitis b9.6

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to galactosemia

Symptoms & Phenotypes for Galactosemia

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Symptoms by clinical synopsis from OMIM:

230400

Clinical features from OMIM:

230400

Human phenotypes related to Galactosemia:

 64 54 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 weight loss64 54 hallmark (90%) Very frequent (99-80%) HP:0001824
2 reduced bone mineral density64 hallmark (90%) HP:0004349
3 reduced consciousness/confusion64 hallmark (90%) HP:0004372
4 feeding difficulties in infancy64 hallmark (90%) HP:0008872
5 cognitive impairment64 hallmark (90%) HP:0100543
6 chronic hepatic failure64 hallmark (90%) HP:0100626
7 hepatic failure64 54 hallmark (90%) Very frequent (99-80%) HP:0001399
8 nausea and vomiting64 54 hallmark (90%) Frequent (79-30%) HP:0002017
9 decreased fertility64 typical (50%) HP:0000144
10 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
11 tremor64 54 typical (50%) Occasional (29-5%) HP:0001337
12 abnormality of the voice64 typical (50%) HP:0001608
13 sepsis64 54 typical (50%) Occasional (29-5%) HP:0100806
14 muscular hypotonia64 typical (50%) HP:0001252
15 ascites64 typical (50%) HP:0001541
16 abnormality of coagulation64 typical (50%) HP:0001928
17 neurological speech impairment64 typical (50%) HP:0002167
18 hepatomegaly64 typical (50%) HP:0002240
19 edema of the lower limbs64 typical (50%) HP:0010741
20 hypoglycemia64 54 occasional (7.5%) Very frequent (99-80%) HP:0001943
21 incoordination64 occasional (7.5%) HP:0002311
22 abnormality of the genital system64 occasional (7.5%) HP:0000078
23 renal insufficiency64 occasional (7.5%) HP:0000083
24 microcephaly64 occasional (7.5%) HP:0000252
25 visual impairment64 occasional (7.5%) HP:0000505
26 seizures64 occasional (7.5%) HP:0001250
27 hemolytic anemia64 occasional (7.5%) HP:0001878
28 hypergonadotropic hypogonadism64 HP:0000815
29 intellectual disability64 54 Frequent (79-30%) HP:0001249
30 cirrhosis64 HP:0001394
31 decreased liver function64 HP:0001410
32 failure to thrive64 54 Frequent (79-30%) HP:0001508
33 metabolic acidosis64 HP:0001942
34 vomiting64 HP:0002013
35 diarrhea64 HP:0002014
36 aminoaciduria64 HP:0003355
37 hyperchloremic metabolic acidosis64 HP:0004918
38 premature ovarian failure64 HP:0008209
39 galactosuria64 HP:0012023
40 hypergalactosemia64 HP:0012024
41 abnormality of the ovary54 Very frequent (99-80%)
42 decreased fertility in females54 Frequent (79-30%)
43 osteoporosis54 Very frequent (99-80%)
44 jaundice54 Very frequent (99-80%)
45 ataxia54 Occasional (29-5%)
46 lethargy54 Occasional (29-5%)
47 dysarthria54 Occasional (29-5%)
48 gait disturbance54 Occasional (29-5%)
49 abnormal bleeding54 Very frequent (99-80%)
50 neonatal death54 Occasional (29-5%)
51 impairment of galactose metabolism54 Frequent (79-30%)
52 speech articulation difficulties54 Frequent (79-30%)
53 speech apraxia54 Frequent (79-30%)
54 feeding difficulties54 Frequent (79-30%)
55 abnormality of movement54 Occasional (29-5%)

UMLS symptoms related to Galactosemia:


sucrose intolerance, diarrhea, hepatomegaly, vomiting

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00351-A-18.5AGA, ALDOB, AMH, BGLAP, GALE, GALT

MGI Mouse Phenotypes related to Galactosemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.3AGA, AKR1B1, ALDOB, CASP1, CD36, G6PC
2MP:00053765.8AGA, AKR1B1, AMH, CASP1, CD36, FSHB

Drugs & Therapeutics for Galactosemia

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

(show all 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tenofovirapproved, investigationalPhase 4, Phase 2733147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-9-(2-phosphonomethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
 
HHA & Tenofovir
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
2
Emtricitabineapproved, investigationalPhase 4, Phase 2439143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
3
Maravirocapproved, investigationalPhase 4, Phase 2142376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
4
Ritonavirapproved, investigationalPhase 4870155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
5
Efavirenzapproved, investigationalPhase 4405154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
6
DarunavirapprovedPhase 4205635728-49-3, 206361-99-1213039
Synonyms:
(3-((4-aminobenzenesulfonyl)isobutylamino)-1-benzyl-2-hydroxypropyl)carbamic acid hexahydrofuro(2,3-b)furan-3-yl ester
(3R,3AS,6AR)-HEXAHYDROFURO[2,3-B]FURAN-3-YL(1S,2R)-3-[[(4-AMINOPHENYL)SULFONYL](ISOBUTYL)AMINO]-1-BENZYL-2-HYDROXYPROPYLCARBAMATE
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl(1S,2R)-3-[[(4-aminophenyl)sulfonyl](isobutyl)amino]-1-benzyl-2-hydroxypropylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-Hexahydrofuro(2,3-b)furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N1-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl [(2S,3R)-4-{[(4-aminophenyl)sulfonyl](2-methylpropyl)amino}-3-hydroxy-1-phenylbutan-2-yl]carbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
206361-99-1
2f80
2f81
2f8g
2hs1
2hs2
2idw
2ien
3bvb
3cyw
3d1z
3d20
618109-00-5
AC1L4U4V
AIDS073035
CHEBI:367163
CHEMBL1323
 
CID213039
Carbamic acid, [(1S,2R)-3-[[(4-aminophenyl)sulfonyl](2-methylpropyl)amino]-2-hydroxy-1-(phenylmethyl)propyl]-, (3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl ester
D03656
DB01264
Darunavir
Darunavir (USAN/INN)
Darunavir [USAN]
Darunavirum
Darunavirum [INN-Latin]
Darunavirum [INN-latin]
LS-187026
LS-187772
LS-191295
MolPort-003-846-141
N-((1S,2R)-3-(((4-Aminophenyl)sulfonyl)(2-methylpropyl)amino)-2-hydroxy-1-benzylpropyl)((1S,2R,5R)-4,6-dioxabicyclo(3.3.0)oct-2-yloxy)carboxamide
Prezista
Prezista(TM)
TMC 114
TMC-114
TMC114
UIC 94017
UIC-94017
UIC-96017
UNII-YO603Y8113
[(3aS,4R,6aR)-2,3,3a,4,5,6a-hexahydrofuro[2,3-b]furan-4-yl] N-[(2S,3R)-4-[(4-aminophenyl)sulfonyl-(2-methylpropyl)amino]-3-hydroxy-1-phenylbutan-2-yl]carbamate
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
7Anti-HIV AgentsPhase 4, Phase 23100
8Reverse Transcriptase InhibitorsPhase 4, Phase 21880
9Nucleic Acid Synthesis InhibitorsPhase 4, Phase 24855
10Anti-Retroviral AgentsPhase 4, Phase 23232
11Anti-Infective AgentsPhase 4, Phase 221402
12Raltegravir PotassiumPhase 4291
13Antiviral AgentsPhase 4, Phase 29732
14HIV Integrase InhibitorsPhase 4387
15Integrase InhibitorsPhase 4408
16Cytochrome P-450 CYP2C9 InhibitorsPhase 4658
17Cytochrome P-450 CYP3A InducersPhase 41101
18Cytochrome P-450 CYP3A InhibitorsPhase 41666
19
protease inhibitorsPhase 45320
Synonyms:
 
protease inhibitors
20Cytochrome P-450 Enzyme InhibitorsPhase 43822
21HIV Protease InhibitorsPhase 45319
22AcidophilusNutraceuticalPhase 3518
23glutamineNutraceuticalPhase 1, Phase 2151
24
VedolizumabapprovedPhase 149943609-66-3
Synonyms:
 
Entyvio
25ImmunoglobulinsPhase 16045
26AntibodiesPhase 16045
27Gastrointestinal AgentsPhase 18109
28Antibodies, MonoclonalPhase 13795
29
Enfuvirtideapproved, investigational58159519-65-016130199
Synonyms:
262434-79-7
C105196
DP178
Dp 178
Enfuvirtide
Enfuvirtide [USAN]
Envelope polyprotein GP160 precursor [Contains: Exterior membrane glycoprotein,GP120, Transmembrane glycoprotein,GP41]
Fuzeon
HSDB 7341
 
LS-183961
N-Acetyl-L-tyrosyl-L-threonyl-L-seryl-L-leucyl-L-isoleucyl-L-histadyl-L-seryl-L-leucyl-L-isoleucyl-L-alpha-glutamyl-L-alpha-glutamyl-L-seryl-L-glutaminyl-L-asparaginyl-L-glutaminyl-L-glutaminyl-L-alpha-glutamyl-L-lysyl-L-asparaginyl-L-alpha-glutamyl-L-glutaminyl-L-alpha-glutamyl-L-leucyl-L-leucyl-L-alpha-glutamyl-L-leucyl-L-alpha-aspartyl-L-lysyl-L-tryptophyl-L-alanyl-L-seryl-L-leucyl-L-tryptophyl-L-asparaginyl-L-tryptophyl-L-phenylalaninamide
Pentafuside
Roche brand of pentafuside
T 20
T 20 (peptide)
T-20
T-20 cpd
T20 peptide
UNII-19OWO1T3ZE
peptide T20
30
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
31Hormones, Hormone Substitutes, and Hormone Antagonists12767
32Hormones13979
33Follicle Stimulating Hormone157
34Hormone Antagonists12778
35Caseins104
36Soy BeanNutraceutical535
37Whey ProteinNutraceutical208
38ColaNutraceutical1881

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1HIV Persistence and Viral ReservoirsUnknown statusNCT01025427Phase 4
2Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ARTCompletedNCT01869634Phase 4
3A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc TherapyCompletedNCT00870363Phase 4
4Fermented Milk and Fermented Rice on the Appearance of Respiratory and Gastrointestinal SymptomsCompletedNCT01909128Phase 3
5Randomized Placebo-controlled Pilot Trial of Prebiotics+Glutamine in HIV InfectionCompletedNCT01838915Phase 1, Phase 2
6Evaluating the Safety and Tolerability of Antiretroviral Drug Regimens Used as Pre-Exposure Prophylaxis to Prevent HIV Infection in At-Risk Men Who Have Sex With Men and in At-Risk WomenCompletedNCT01505114Phase 2
7Vedolizumab (Anti-alpha4beta7) in Subjects With HIV Infection Undergoing Analytical Treatment InterruptionRecruitingNCT02788175Phase 1
8Inactive FSH in GalactosemiaUnknown statusNCT00619333
9The Role of Human Milk in Development of Breast Fed Child's Intestinal MicrobiotaUnknown statusNCT01548313
10Glycosylation in Patients With GalactosaemiaCompletedNCT02218632
11Pregnancy Chances in Classic GalactosemiaCompletedNCT02091128
12Gut Associated Lymphatic Tissue (GALT) in HIV (Human Immunodeficiency Virus)- Infected PatientsCompletedNCT01679067
13Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 StudyCompletedNCT01038401
14The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
15Pilot Project of Virologic and Immunologic Correlates of GALT Immune Reconstitution Following Raltegravir TherapyCompletedNCT00661960
16Impact of Pre-ART Blood CD4+ T Cell Level on the Rectal Reservoir in Long-term HIV-1 Treated MenCompletedNCT02526940
17Fuzeon Viral Decay Pilot StudyCompletedNCT00334022
18Impact of Serum-derived Bovine Immunoglobulin Protein Isolate, a Medical Food, on Nutritional Status in Patients With HIV-associated EnteropathyCompletedNCT01828593
19Intervention and Outcomes in Duarte GalactosemiaRecruitingNCT02519504
20Predictors of Time to Viremia With an Analytic Treatment InterruptionRecruitingNCT03033017
21HIV Eradication Through Cord-blood TransplantationRecruitingNCT02923076
22Evaluation of Hypoallergenicity of a New Extensively Hydrolyzed FormulaRecruitingNCT02450643
23Gut-Associated Lymphocyte TraffickingNot yet recruitingNCT02906137
24The Lymphoid Tissue Pharmacology of Antiretroviral DrugsNot yet recruitingNCT02707926
25Raltegravir Activity In Lymphoid TissuesWithdrawnNCT00863668

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

About this section

Genetic tests related to Galactosemia:

id Genetic test Affiliating Genes
1 Deficiency of Galactokinase27
2 Galactosemia27 24 GALT

Anatomical Context for Galactosemia

About this section

MalaCards organs/tissues related to Galactosemia:

36
Liver, Testes, Bone, Brain, Ovary, Eye, T cells

Publications for Galactosemia

About this section

Articles related to Galactosemia:

(show top 50)    (show all 549)
idTitleAuthorsYear
1
Drosophila melanogaster Models of Galactosemia. (28057307)
2017
2
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. (28075131)
2017
3
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. (28078493)
2017
4
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. (27995581)
2016
5
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. (26840667)
2016
6
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. (27389247)
2016
7
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. (28065439)
2016
8
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. (27403610)
2016
9
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. (27502028)
2016
10
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. (27562100)
2016
11
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. (27176039)
2016
12
The galactosemia network (GalNet). (27837294)
2016
13
Gastrointestinal Health in Classic Galactosemia. (27363831)
2016
14
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain. (26783274)
2016
15
Classic Galactosemia: Indian Scenario. (26840665)
2016
16
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. (27466186)
2016
17
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. (27858262)
2016
18
Galactosemia , A Not to be Missed Inborn Error of Metabolism. (26840664)
2016
19
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. (27005423)
2016
20
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. (26053138)
2015
21
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. (25920691)
2015
22
Newborn screening for galactosemia: a 30-year single center experience. (25754754)
2015
23
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. (25681079)
2015
24
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis. (26350570)
2015
25
Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency. (26024933)
2015
26
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge. (25680784)
2015
27
Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia. (25800483)
2015
28
Affected functional networks associated with sentence production in classic galactosemia. (25979518)
2015
29
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma. (25622686)
2015
30
The molecular basis of galactosemia - Past, present and future. (26143117)
2015
31
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia. (26217714)
2015
32
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. (25681083)
2015
33
Functional and structural impact of the most prevalent missense mutations in classic galactosemia. (25614870)
2014
34
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. (25222808)
2014
35
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead. (24718839)
2014
36
Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. (24456566)
2014
37
GALK inhibitors for classic galactosemia. (25068984)
2014
38
The unfolded protein response has a protective role in yeast models of classic galactosemia. (24077966)
2014
39
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. (23749220)
2014
40
White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging. (25344151)
2014
41
A brief overview of galactosemia newborn screening in the United States. (24658844)
2014
42
Usefulness of Benedict's test for the screening of galactosemia. (24530342)
2014
43
Developmental Defects in a Caenorhabditis elegans Model for Type III Galactosemia. (25298520)
2014
44
Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia. (25086875)
2014
45
A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. (24857409)
2014
46
Galactosemia and phantom absence seizures. (25624930)
2014
47
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding. (25150110)
2014
48
Altered synaptic architecture and glycosylated synaptomatrix composition in a Drosophila classic galactosemia disease model. (25326312)
2014
49
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. (25228601)
2014
50
Neurologic Sequela in a Patient With Galactosemia Potentially Mediated by Interleukin-11 Dysfunction. (25008910)
2014

Variations for Galactosemia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

70 (show all 134)
id Symbol AA change Variation ID SNP ID
1GALTp.Asp28TyrVAR_002548rs111033636
2GALTp.Ile32AsnVAR_002549rs111033644
3GALTp.Gln38ProVAR_002550rs111033646
4GALTp.Val44LeuVAR_002551rs111033647
5GALTp.Val44MetVAR_002552rs111033647
6GALTp.Arg51LeuVAR_002553rs111033648
7GALTp.Gly55CysVAR_002554rs111033654
8GALTp.Arg67CysVAR_002556rs111033658
9GALTp.Leu74ProVAR_002557rs111033663
10GALTp.Ala81ThrVAR_002558rs111033665
11GALTp.Asn97SerVAR_002559rs111033669
12GALTp.Asp98AsnVAR_002560rs111033670
13GALTp.Asp113AsnVAR_002561rs111033677
14GALTp.His114LeuVAR_002562rs111033678
15GALTp.Phe117SerVAR_002563rs111033679
16GALTp.Gln118HisVAR_002564rs111033673
17GALTp.Arg123GlyVAR_002565rs111033674
18GALTp.Arg123GlnVAR_002566rs111033675
19GALTp.Val125AlaVAR_002567rs111033680
20GALTp.Lys127GluVAR_002568rs111033682
21GALTp.Cys130TyrVAR_002569rs367543255
22GALTp.His132TyrVAR_002570rs111033688
23GALTp.Ser135LeuVAR_002571rs111033690
24GALTp.Thr138MetVAR_002572rs111033686
25GALTp.Leu139ProVAR_002573rs111033687
26GALTp.Met142LysVAR_002574rs111033695
27GALTp.Met142ValVAR_002575rs111033692
28GALTp.Ser143LeuVAR_002576rs111033697
29GALTp.Arg148GlyVAR_002577rs111033693
30GALTp.Arg148GlnVAR_002578rs111033694
31GALTp.Arg148TrpVAR_002579rs111033693
32GALTp.Val150LeuVAR_002580rs111033699
33GALTp.Val151AlaVAR_002581rs111033701
34GALTp.Trp154GlyVAR_002582rs111033702
35GALTp.Phe171SerVAR_002583rs111033715
36GALTp.Gly179AspVAR_002584rs111033720
37GALTp.Pro183ThrVAR_002585rs111033721
38GALTp.His184GlnVAR_002586rs111033717
39GALTp.Gln188ArgVAR_002587rs75391579
40GALTp.Ser192AsnVAR_002588rs111033734
41GALTp.Phe194LeuVAR_002589rs111033726
42GALTp.Leu195ProVAR_002590rs111033728
43GALTp.Ile198MetVAR_002591rs111033729
44GALTp.Ile198ThrVAR_002592
45GALTp.Ala199ThrVAR_002593rs111033730
46GALTp.Arg201HisVAR_002594rs111033735
47GALTp.Glu203LysVAR_002595rs111033736
48GALTp.Tyr209CysVAR_002596rs111033744
49GALTp.Tyr209SerVAR_002597rs111033744
50GALTp.Gln212HisVAR_002598
51GALTp.Leu217ProVAR_002599rs111033741
52GALTp.Leu226ProVAR_002600rs111033752
53GALTp.Arg231HisVAR_002601rs111033754
54GALTp.Trp249ArgVAR_002602rs111033757
55GALTp.Tyr251CysVAR_002603rs111033755
56GALTp.Tyr251SerVAR_002604rs111033755
57GALTp.Arg258CysVAR_002605rs368166217
58GALTp.Arg259TrpVAR_002606rs786204763
59GALTp.Arg262ProVAR_002607rs111033763
60GALTp.Leu282ValVAR_002608rs111033772
61GALTp.Lys285AsnVAR_002609rs111033773
62GALTp.Leu289ArgVAR_002610rs111033775
63GALTp.Glu291LysVAR_002611rs111033780
64GALTp.Glu308LysVAR_002612rs111033784
65GALTp.Asn314AspVAR_002613rs2070074
66GALTp.Gln317HisVAR_002614rs111033787
67GALTp.Gln317ArgVAR_002615rs111033786
68GALTp.His319GlnVAR_002616rs111033792
69GALTp.Ala320ThrVAR_002617rs111033795
70GALTp.Tyr323AspVAR_002618rs111033796
71GALTp.Tyr323HisVAR_002619rs111033796
72GALTp.Pro324SerVAR_002620rs111033798
73GALTp.Pro325LeuVAR_002621rs111033794
74GALTp.Arg328HisVAR_002622rs111033802
75GALTp.Ser329PheVAR_002623rs111033803
76GALTp.Ala330ValVAR_002624rs111033804
77GALTp.Arg333GlyVAR_002625rs111033800
78GALTp.Arg333GlnVAR_002626rs111033808
79GALTp.Arg333TrpVAR_002627rs111033800
80GALTp.Lys334ArgVAR_002628rs111033809
81GALTp.Met336LeuVAR_002629rs111033810
82GALTp.Gln344LysVAR_002630rs111033814
83GALTp.Thr350AlaVAR_002631rs111033817
84GALTp.Ser45LeuVAR_008042rs111033652
85GALTp.Met129ThrVAR_008043rs111033683
86GALTp.Trp167ArgVAR_008044rs111033708
87GALTp.Arg204ProVAR_008045rs111033740
88GALTp.Arg272GlyVAR_008047rs111033766
89GALTp.Phe294TyrVAR_008048rs111033781
90GALTp.Arg51GlnVAR_023328rs111033648
91GALTp.Ser135TrpVAR_023329rs111033690
92GALTp.Lys229AsnVAR_023330rs111033753
93GALTp.Gln252HisVAR_023331rs111033769
94GALTp.Gln9HisVAR_068531rs111033637
95GALTp.Thr23AlaVAR_068532rs111033635
96GALTp.Asp28HisVAR_068533rs111033636
97GALTp.Arg33HisVAR_068534rs111033829
98GALTp.Tyr34AsnVAR_068535rs111033836
99GALTp.Ser112ArgVAR_068536
100GALTp.His132GlnVAR_068537rs367543256
101GALTp.Val168LeuVAR_068538rs367543258
102GALTp.Ile170ThrVAR_068539rs111033839
103GALTp.Ser181AlaVAR_068540rs111033828
104GALTp.Pro185HisVAR_068541rs111033722
105GALTp.Pro185SerVAR_068542rs111033826
106GALTp.Ser192GlyVAR_068543rs111033830
107GALTp.Arg201CysVAR_068544rs111033739
108GALTp.Glu220LysVAR_068545rs111033747
109GALTp.Arg223SerVAR_068546rs111033750
110GALTp.Leu227ProVAR_068547rs111033846
111GALTp.Arg259GlnVAR_068548
112GALTp.Pro265AlaVAR_068549rs111033764
113GALTp.Ile278AsnVAR_068550rs111033778
114GALTp.Leu289PheVAR_068551rs111033774
115GALTp.Glu291ValVAR_068552rs111033841
116GALTp.Leu327ProVAR_068553rs111033832
117GALTp.Leu342IleVAR_068554rs111033812
118GALTp.Ala345AspVAR_068555rs111033815
119GALTp.Tyr89HisVAR_068824rs111033666
120GALTp.Gln103ArgVAR_068825rs367543252
121GALTp.Pro166AlaVAR_068826rs367543257
122GALTp.Ser181PheVAR_068827rs367543259
123GALTp.Pro185LeuVAR_068828rs111033722
124GALTp.Lys285ArgVAR_068829rs367543263
125GALTp.Arg333LeuVAR_068830rs111033808
126GALTp.Arg33ProVAR_072793
127GALTp.Gly83ValVAR_072794
128GALTp.Met142ThrVAR_072795rs111033695
129GALTp.Gly175AspVAR_072796rs111033718
130GALTp.Arg231CysVAR_072797rs111033749
131GALTp.Pro244SerVAR_072798
132GALTp.Leu267ArgVAR_072799
133GALTp.Leu267ValVAR_072800
134GALTp.Glu271AspVAR_072801

Clinvar genetic disease variations for Galactosemia:

5 (show all 277)
id Gene Variation Type Significance SNP ID Assembly Location
1GALTNC_000009.12deletionPathogenicGRCh38Chr 9, 34644530: 34653250
2GALTNM_000155.3(GALT): c.-67-52_-67-49deldeletion, HaplotypePathogenicrs111033640GRCh37Chr 9, 34646583: 34646586
3GALENM_001008216.1(GALE): c.408C> A (p.Tyr136Ter)SNVPathogenicrs727503943GRCh37Chr 1, 24124305: 24124305
4GALTNM_000155.3(GALT): c.445dupG (p.Ala149Glyfs)duplicationPathogenicrs786200978GRCh37Chr 9, 34647896: 34647896
5GALTNM_000155.3(GALT): c.775C> T (p.Arg259Trp)SNVLikely pathogenic, Pathogenicrs786204763GRCh38Chr 9, 34648849: 34648849
6GALTNM_000155.3(GALT): c.82+2deldeletionPathogenicrs794726876GRCh37Chr 9, 34646785: 34646785
7GALTNM_000155.3(GALT): c.1052delC (p.Pro351Leufs)deletionLikely pathogenic, Pathogenicrs111033813GRCh37Chr 9, 34649554: 34649554
8GALTNM_000155.3(GALT): c.905-1G> ASNVPathogenicrs794726971GRCh37Chr 9, 34649406: 34649406
9GALTNM_000155.3(GALT): c.1139G> C (p.Ter380Ser)SNVLikely pathogenicrs749047676GRCh37Chr 9, 34650445: 34650445
10GALENM_001008216.1(GALE): c.272delT (p.Leu91Profs)deletionPathogenicrs794727702GRCh37Chr 1, 24124686: 24124686
11GALTNM_000155.3(GALT): c.572C> T (p.Ala191Val)SNVLikely pathogenicrs794727838GRCh37Chr 9, 34648338: 34648338
12GALENM_000403.3(GALE): c.505C> T (p.Arg169Trp)SNVPathogenicrs137853859GRCh37Chr 1, 24124208: 24124208
13GALENM_000403.3(GALE): c.715C> T (p.Arg239Trp)SNVPathogenicrs137853860GRCh37Chr 1, 24123267: 24123267
14GALENM_000403.3(GALE): c.905G> A (p.Gly302Asp)SNVPathogenicrs137853861GRCh37Chr 1, 24122724: 24122724
15GALTNG_009029.1: g.(?_4752)_(?_9014)deletionPathogenicChr na, -1: -1
16GALTNG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]indelPathogenicChr na, -1: -1
17GALTNM_000155.3(GALT): c.1A> G (p.Met1Val)SNVPathogenicrs111033639GRCh37Chr 9, 34646702: 34646702
18GALTNM_000155.3(GALT): c.18delC (p.Asp7Ilefs)deletionLikely pathogenic, Pathogenicrs111033638GRCh37Chr 9, 34646719: 34646719
19GALTNM_000155.3(GALT): c.25C> T (p.Gln9Ter)SNVLikely pathogenic, Pathogenicrs111033848GRCh37Chr 9, 34646726: 34646726
20GALTNM_000155.3(GALT): c.27G> C (p.Gln9His)SNVPathogenicrs111033637GRCh37Chr 9, 34646728: 34646728
21GALTNM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs)indelLikely pathogenic, Pathogenicrs111033634GRCh37Chr 9, 34646742: 34646742
22GALTNM_000155.3(GALT): c.67A> G (p.Thr23Ala)SNVPathogenicrs111033635GRCh37Chr 9, 34646768: 34646768
23GALTNM_000155.3(GALT): c.82G> T (p.Asp28Tyr)SNVPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
24GALTNM_000155.3(GALT): c.82G> C (p.Asp28His)SNVPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
25GALTNM_000155.3(GALT): c.90G> C (p.Gln30His)SNVPathogenicrs111033834GRCh37Chr 9, 34647093: 34647093
26GALTNM_000155.3(GALT): c.91C> A (p.His31Asn)SNVPathogenicrs111033643GRCh37Chr 9, 34647094: 34647094
27GALTNM_000155.3(GALT): c.95T> A (p.Ile32Asn)SNVPathogenicrs111033644GRCh37Chr 9, 34647098: 34647098
28GALTNM_000155.3(GALT): c.98G> A (p.Arg33His)SNVPathogenicrs111033829GRCh37Chr 9, 34647101: 34647101
29GALTNM_000155.3(GALT): c.100T> A (p.Tyr34Asn)SNVPathogenicrs111033836GRCh37Chr 9, 34647103: 34647103
30GALTNM_000155.3(GALT): c.107C> T (p.Pro36Leu)SNVPathogenicrs111033645GRCh37Chr 9, 34647110: 34647110
31GALTNM_000155.3(GALT): c.113A> C (p.Gln38Pro)SNVPathogenicrs111033646GRCh37Chr 9, 34647116: 34647116
32GALTNM_000155.3(GALT): c.130G> T (p.Val44Leu)SNVPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
33GALTNM_000155.3(GALT): c.134_138delCAGCT (p.Ala46Profs)deletionPathogenicrs111033651GRCh37Chr 9, 34647137: 34647141
34GALTNM_000155.3(GALT): c.134C> T (p.Ser45Leu)SNVPathogenicrs111033652GRCh37Chr 9, 34647137: 34647137
35GALTNM_000155.3(GALT): c.152G> T (p.Arg51Leu)SNVPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
36GALTNM_000155.3(GALT): c.160C> T (p.Gln54Ter)SNVPathogenicrs111033649GRCh37Chr 9, 34647163: 34647163
37GALTNM_000155.3(GALT): c.197C> A (p.Pro66His)SNVPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
38GALTNM_000155.3(GALT): c.197C> T (p.Pro66Leu)SNVPathogenicrs111033656GRCh37Chr 9, 34647200: 34647200
39GALTNM_000155.3(GALT): c.199C> T (p.Arg67Cys)SNVPathogenicrs111033658GRCh37Chr 9, 34647202: 34647202
40GALTNM_000155.3(GALT): c.207_214delCCCTCTCA (p.Asp69Glufs)deletionPathogenicrs111033655GRCh37Chr 9, 34647210: 34647217
41GALTNM_000155.3(GALT): c.220_221insG (p.Leu74Argfs)insertionPathogenicrs111033659GRCh37Chr 9, 34647223: 34647224
42GALTNM_000155.3(GALT): c.238C> T (p.Arg80Ter)SNVLikely pathogenic, Pathogenicrs111033664GRCh37Chr 9, 34647241: 34647241
43GALTNM_000155.3(GALT): c.241G> A (p.Ala81Thr)SNVPathogenicrs111033665GRCh37Chr 9, 34647244: 34647244
44GALTNM_000155.3(GALT): c.253-2A> GSNVPathogenicrs111033661GRCh37Chr 9, 34647487: 34647487
45GALTNM_000155.3(GALT): c.265T> G (p.Tyr89Asp)SNVPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
46GALTNM_000155.3(GALT): c.265T> C (p.Tyr89His)SNVPathogenicrs111033666GRCh37Chr 9, 34647501: 34647501
47GALTNM_000155.3(GALT): c.285T> G (p.Phe95Leu)SNVPathogenicrs111033668GRCh37Chr 9, 34647521: 34647521
48GALTNM_000155.3(GALT): c.290A> G (p.Asn97Ser)SNVPathogenicrs111033669GRCh37Chr 9, 34647526: 34647526
49GALTNM_000155.3(GALT): c.367C> G (p.Arg123Gly)SNVPathogenicrs111033674GRCh37Chr 9, 34647692: 34647692
50GALTNM_000155.3(GALT): c.292G> A (p.Asp98Asn)SNVPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
51GALTNM_000155.3(GALT): c.292G> C (p.Asp98His)SNVPathogenicrs111033670GRCh37Chr 9, 34647528: 34647528
52GALTNM_000155.3(GALT): c.328+2T> CSNVPathogenicrs111033849GRCh37Chr 9, 34647566: 34647566
53GALTNM_000155.3(GALT): c.308A> G (p.Gln103Arg)SNVPathogenicrs367543252GRCh37Chr 9, 34647544: 34647544
54GALTNM_000155.3(GALT): c.329-2A> CSNVPathogenicrs111033667GRCh37Chr 9, 34647652: 34647652
55GALTNM_000155.3(GALT): c.334dupA (p.Ser112Lysfs)duplicationPathogenicrs111033676GRCh37Chr 9, 34647659: 34647659
56GALTNM_000155.3(GALT): c.336T> C (p.Ser112=)SNVPathogenicrs367543254GRCh37Chr 9, 34647661: 34647661
57GALTNM_000155.3(GALT): c.337G> A (p.Asp113Asn)SNVPathogenicrs111033677GRCh37Chr 9, 34647662: 34647662
58GALTNM_000155.3(GALT): c.341A> T (p.His114Leu)SNVPathogenicrs111033678GRCh37Chr 9, 34647666: 34647666
59GALTNM_000155.3(GALT): c.350T> C (p.Phe117Ser)SNVPathogenicrs111033679GRCh37Chr 9, 34647675: 34647675
60GALTNM_000155.3(GALT): c.354A> C (p.Gln118His)SNVPathogenicrs111033673GRCh37Chr 9, 34647679: 34647679
61GALTNM_000155.3(GALT): c.368G> A (p.Arg123Gln)SNVPathogenicrs111033675GRCh37Chr 9, 34647693: 34647693
62GALTNM_000155.3(GALT): c.374T> C (p.Val125Ala)SNVPathogenicrs111033680GRCh37Chr 9, 34647699: 34647699
63GALTNM_000155.3(GALT): c.377+1G> TSNVPathogenicrs111033681GRCh37Chr 9, 34647703: 34647703
64GALTNM_000155.3(GALT): c.377+53_1059+87deldeletionPathogenicGRCh37Chr 9, 34647755: 34649648
65GALTNM_000155.3(GALT): c.379A> G (p.Lys127Glu)SNVPathogenicrs111033682GRCh37Chr 9, 34647830: 34647830
66GALTNM_000155.3(GALT): c.389G> A (p.Cys130Tyr)SNVPathogenicrs367543255GRCh37Chr 9, 34647840: 34647840
67GALTNM_000155.3(GALT): c.392T> G (p.Phe131Cys)SNVPathogenicrs111033684GRCh37Chr 9, 34647843: 34647843
68GALTNM_000155.3(GALT): c.396C> A (p.His132Gln)SNVLikely pathogenic, Pathogenicrs367543256GRCh37Chr 9, 34647847: 34647847
69GALTNM_000155.3(GALT): c.400delT (p.Trp134Glyfs)deletionPathogenicrs111033689GRCh37Chr 9, 34647851: 34647851
70GALTNM_000155.3(GALT): c.404C> G (p.Ser135Trp)SNVLikely pathogenic, Pathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
71GALTNM_000155.3(GALT): c.410dupT (p.Thr138Asnfs)duplicationPathogenicrs397515628GRCh37Chr 9, 34647861: 34647861
72GALTNM_000155.3(GALT): c.413C> T (p.Thr138Met)SNVPathogenicrs111033686GRCh37Chr 9, 34647864: 34647864
73GALTNM_000155.3(GALT): c.424A> G (p.Met142Val)SNVPathogenicrs111033692GRCh37Chr 9, 34647875: 34647875
74GALTNM_000155.3(GALT): c.425T> C (p.Met142Thr)SNVPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
75GALTNM_000155.3(GALT): c.442C> G (p.Arg148Gly)SNVPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
76GALTNM_000155.3(GALT): c.443G> A (p.Arg148Gln)SNVPathogenicrs111033694GRCh37Chr 9, 34647894: 34647894
77GALTNM_000155.3(GALT): c.448G> C (p.Val150Leu)SNVPathogenicrs111033699GRCh37Chr 9, 34647899: 34647899
78GALTNM_000155.3(GALT): c.452T> C (p.Val151Ala)SNVPathogenicrs111033701GRCh37Chr 9, 34647903: 34647903
79GALTNM_000155.3(GALT): c.460T> G (p.Trp154Gly)SNVPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
80GALTNM_000155.3(GALT): c.460T> C (p.Trp154Arg)SNVPathogenicrs111033702GRCh37Chr 9, 34647911: 34647911
81GALTNM_000155.3(GALT): c.462G> A (p.Trp154Ter)SNVPathogenicrs111033704GRCh37Chr 9, 34647913: 34647913
82GALTNM_000155.3(GALT): c.482T> C (p.Leu161Pro)SNVPathogenicrs111033700GRCh37Chr 9, 34647933: 34647933
83GALTNM_000155.3(GALT): c.490C> T (p.Gln164Ter)SNVPathogenicrs111033705GRCh37Chr 9, 34647941: 34647941
84GALTNM_000155.3(GALT): c.496C> G (p.Pro166Ala)SNVPathogenicrs367543257GRCh37Chr 9, 34647947: 34647947
85GALTNM_000155.3(GALT): c.499T> C (p.Trp167Arg)SNVPathogenicrs111033708GRCh37Chr 9, 34647950: 34647950
86GALTNM_000155.3(GALT): c.502G> T (p.Val168Leu)SNVLikely pathogenic, Pathogenicrs367543258GRCh37Chr 9, 34647953: 34647953
87GALTNM_000155.3(GALT): c.505C> A (p.Gln169Lys)SNVPathogenicrs111033709GRCh37Chr 9, 34647956: 34647956
88GALTNM_000155.3(GALT): c.507+2T> CSNVPathogenicrs111033710GRCh37Chr 9, 34647960: 34647960
89GALTNM_000155.3(GALT): c.508-5G> CSNVPathogenicrs111033714GRCh37Chr 9, 34648107: 34648107
90GALTNM_000155.3(GALT): c.509T> C (p.Ile170Thr)SNVPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
91GALTNM_000155.3(GALT): c.509T> A (p.Ile170Asn)SNVPathogenicrs111033839GRCh37Chr 9, 34648113: 34648113
92GALTNM_000155.3(GALT): c.524G> A (p.Gly175Asp)SNVPathogenicrs111033718GRCh37Chr 9, 34648128: 34648128
93GALTNM_000155.3(GALT): c.528_529insG (p.Met177Aspfs)insertionPathogenicrs111033719GRCh37Chr 9, 34648132: 34648133
94GALTNM_000155.3(GALT): c.536G> A (p.Gly179Asp)SNVPathogenicrs111033720GRCh37Chr 9, 34648140: 34648140
95GALTNM_000155.3(GALT): c.539G> T (p.Cys180Phe)SNVPathogenicrs111033844GRCh37Chr 9, 34648143: 34648143
96GALTNM_000155.3(GALT): c.541T> G (p.Ser181Ala)SNVPathogenicrs111033828GRCh37Chr 9, 34648145: 34648145
97GALTNM_000155.3(GALT): c.542C> T (p.Ser181Phe)SNVPathogenicrs367543259GRCh37Chr 9, 34648146: 34648146
98GALTNM_000155.3(GALT): c.550C> G (p.His184Asp)SNVPathogenicrs111033716GRCh37Chr 9, 34648154: 34648154
99GALTNM_000155.3(GALT): c.552C> A (p.His184Gln)SNVPathogenicrs111033717GRCh37Chr 9, 34648156: 34648156
100GALTNM_000155.3(GALT): c.553C> T (p.Pro185Ser)SNVPathogenicrs111033826GRCh37Chr 9, 34648157: 34648157
101GALTNM_000155.3(GALT): c.554C> A (p.Pro185His)SNVPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
102GALTNM_000155.3(GALT): c.554C> T (p.Pro185Leu)SNVPathogenicrs111033722GRCh37Chr 9, 34648158: 34648158
103GALTNM_000155.3(GALT): c.556C> T (p.His186Tyr)SNVPathogenicrs111033725GRCh37Chr 9, 34648160: 34648160
104GALTNM_000155.3(GALT): c.564+1G> ASNVPathogenicrs111033723GRCh37Chr 9, 34648169: 34648169
105GALTNM_000155.3(GALT): c.565-2A> GSNVLikely pathogenic, Pathogenicrs111033731GRCh37Chr 9, 34648329: 34648329
106GALTNM_000155.3(GALT): c.574A> G (p.Ser192Gly)SNVPathogenicrs111033830GRCh37Chr 9, 34648340: 34648340
107GALTNM_000155.3(GALT): c.575G> A (p.Ser192Asn)SNVPathogenicrs111033734GRCh37Chr 9, 34648341: 34648341
108GALTNM_000155.3(GALT): c.584T> C (p.Leu195Pro)SNVPathogenicrs111033728GRCh37Chr 9, 34648350: 34648350
109GALTNM_000155.3(GALT): c.594T> G (p.Ile198Met)SNVPathogenicrs111033729GRCh37Chr 9, 34648360: 34648360
110GALTNM_000155.3(GALT): c.595G> A (p.Ala199Thr)SNVPathogenicrs111033730GRCh37Chr 9, 34648361: 34648361
111GALTNM_000155.3(GALT): c.598delC (p.Gln200Serfs)deletionPathogenicrs111033738GRCh37Chr 9, 34648364: 34648364
112GALTNM_000155.3(GALT): c.601C> T (p.Arg201Cys)SNVPathogenicrs111033739GRCh37Chr 9, 34648367: 34648367
113GALTNM_000155.3(GALT): c.602G> A (p.Arg201His)SNVPathogenicrs111033735GRCh37Chr 9, 34648368: 34648368
114GALTNM_000155.3(GALT): c.610C> T (p.Arg204Ter)SNVLikely pathogenic, Pathogenicrs111033737GRCh37Chr 9, 34648376: 34648376
115GALTNM_000155.3(GALT): c.611G> C (p.Arg204Pro)SNVPathogenicrs111033740GRCh37Chr 9, 34648377: 34648377
116GALTNM_000155.3(GALT): c.619C> T (p.Gln207Ter)SNVPathogenicrs111033743GRCh37Chr 9, 34648385: 34648385
117GALTNM_000155.3(GALT): c.626A> G (p.Tyr209Cys)SNVPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
118GALTNM_000155.3(GALT): c.626A> C (p.Tyr209Ser)SNVPathogenicrs111033744GRCh37Chr 9, 34648392: 34648392
119GALTNM_000155.3(GALT): c.634C> T (p.Gln212Ter)SNVLikely pathogenic, Pathogenicrs111033746GRCh37Chr 9, 34648400: 34648400
120GALTNM_000155.3(GALT): c.635A> C (p.Gln212Pro)SNVPathogenicrs111033833GRCh37Chr 9, 34648401: 34648401
121GALTNM_000155.3(GALT): c.650T> C (p.Leu217Pro)SNVPathogenicrs111033741GRCh37Chr 9, 34648416: 34648416
122GALTNM_000155.3(GALT): c.652delC (p.Leu218Terfs)deletionPathogenicrs111033742GRCh37Chr 9, 34648418: 34648418
123GALTNM_000155.3(GALT): c.652C> G (p.Leu218Val)SNVPathogenicrs2070075GRCh37Chr 9, 34648418: 34648418
124GALTNM_000155.3(GALT): c.658G> A (p.Glu220Lys)SNVPathogenicrs111033747GRCh37Chr 9, 34648424: 34648424
125GALTNM_000155.3(GALT): c.658dupG (p.Glu220Glyfs)duplicationPathogenicrs111033825GRCh37Chr 9, 34648424: 34648424
126GALTNM_000155.3(GALT): c.667C> A (p.Arg223Ser)SNVPathogenicrs111033750GRCh37Chr 9, 34648433: 34648433
127GALTNM_000155.3(GALT): c.677T> C (p.Leu226Pro)SNVPathogenicrs111033752GRCh37Chr 9, 34648443: 34648443
128GALTNM_000155.3(GALT): c.687G> T (p.Lys229Asn)SNVPathogenicrs111033753GRCh37Chr 9, 34648453: 34648453
129GALTNM_000155.3(GALT): c.687+2T> CSNVPathogenicrs111033748GRCh37Chr 9, 34648455: 34648455
130GALTNM_000155.3(GALT): c.691C> T (p.Arg231Cys)SNVLikely pathogenic, Pathogenicrs111033749GRCh37Chr 9, 34648762: 34648762
131GALTNM_000155.3(GALT): c.692G> A (p.Arg231His)SNVPathogenicrs111033754GRCh37Chr 9, 34648763: 34648763
132GALTNM_000155.3(GALT): c.697G> C (p.Val233Leu)SNVPathogenicrs111033843GRCh37Chr 9, 34648768: 34648768
133GALTNM_000155.3(GALT): c.719_728delTAGTACTGGT (p.Leu240Serfs)deletionPathogenicrs111033838GRCh37Chr 9, 34648790: 34648799
134GALTNM_000155.3(GALT): c.745T> C (p.Trp249Arg)SNVPathogenicrs111033757GRCh37Chr 9, 34648816: 34648816
135GALTNM_000155.3(GALT): c.747G> A (p.Trp249Ter)SNVPathogenicrs111033758GRCh37Chr 9, 34648818: 34648818
136GALTNM_000155.3(GALT): c.752A> G (p.Tyr251Cys)SNVPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
137GALTNM_000155.3(GALT): c.752A> C (p.Tyr251Ser)SNVPathogenicrs111033755GRCh37Chr 9, 34648823: 34648823
138GALTNM_000155.3(GALT): c.756G> T (p.Gln252His)SNVPathogenicrs111033769GRCh37Chr 9, 34648827: 34648827
139GALTL255AfsX12insertionPathogenicChr na, -1: -1
140GALTNM_000155.3(GALT): c.768_770delGCC (p.Pro257del)deletionPathogenicrs111033770GRCh37Chr 9, 34648839: 34648841
141GALTNM_000155.3(GALT): c.770C> T (p.Pro257Leu)SNVPathogenicrs111033845GRCh37Chr 9, 34648841: 34648841
142GALTM60091.1: c.775C> T?undetermined variantPathogenicChr na, -1: -1
143GALTNM_000155.3(GALT): c.779_790delATGTGCGGCGGC (p.His260_Arg263del)deletionPathogenicGRCh37Chr 9, 34648850: 34648861
144GALTNM_000155.3(GALT): c.785G> C (p.Arg262Pro)SNVPathogenicrs111033763GRCh37Chr 9, 34648856: 34648856
145GALTNM_000155.3(GALT): c.793C> G (p.Pro265Ala)SNVPathogenicrs111033764GRCh37Chr 9, 34648864: 34648864
146GALTNM_000155.3(GALT): c.812A> G (p.Glu271Gly)SNVPathogenicrs111033765GRCh37Chr 9, 34648883: 34648883
147GALTNM_000155.3(GALT): c.814C> G (p.Arg272Gly)SNVPathogenicrs111033766GRCh37Chr 9, 34648885: 34648885
148GALTNM_000155.3(GALT): c.820+13A> GSNVLikely pathogenic, Pathogenicrs111033768GRCh37Chr 9, 34648904: 34648904
149GALTNM_000155.3(GALT): c.821-2A> GSNVPathogenicrs111033767GRCh37Chr 9, 34648993: 34648993
150GALTNM_000155.3(GALT): c.824delT (p.Leu275Glnfs)deletionPathogenicrs111033777GRCh37Chr 9, 34648998: 34648998
151GALTNM_000155.3(GALT): c.833T> A (p.Ile278Asn)SNVPathogenicrs111033778GRCh37Chr 9, 34649007: 34649007
152GALTNM_000155.3(GALT): c.836T> G (p.Met279Arg)SNVPathogenicrs111033779GRCh37Chr 9, 34649010: 34649010
153GALTNM_000155.3(GALT): c.844C> G (p.Leu282Val)SNVLikely pathogenic, Pathogenicrs111033772GRCh37Chr 9, 34649018: 34649018
154GALTNM_000155.3(GALT): c.854A> G (p.Lys285Arg)SNVPathogenicrs367543263GRCh37Chr 9, 34649028: 34649028
155GALTNM_000155.3(GALT): c.865C> T (p.Leu289Phe)SNVPathogenicrs111033774GRCh37Chr 9, 34649039: 34649039
156GALTNM_000155.3(GALT): c.866T> G (p.Leu289Arg)SNVPathogenicrs111033775GRCh37Chr 9, 34649040: 34649040
157GALTNM_000155.3(GALT): c.871G> A (p.Glu291Lys)SNVPathogenicrs111033780GRCh37Chr 9, 34649045: 34649045
158GALTNM_000155.3(GALT): c.872A> T (p.Glu291Val)SNVPathogenicrs111033841GRCh37Chr 9, 34649046: 34649046
159GALTNM_000155.3(GALT): c.881T> A (p.Phe294Tyr)SNVPathogenicrs111033781GRCh37Chr 9, 34649055: 34649055
160GALTNM_000155.3(GALT): c.882delT (p.Tyr296Thrfs)deletionPathogenicrs111033782GRCh37Chr 9, 34649056: 34649056
161GALTNM_000155.3(GALT): c.883C> A (p.Pro295Thr)SNVPathogenicrs111033783GRCh37Chr 9, 34649057: 34649057
162GALTNM_000155.3(GALT): c.904+5G> ASNVPathogenicrs367543264GRCh37Chr 9, 34649083: 34649083
163GALTNM_000155.3(GALT): c.920C> A (p.Ser307Ter)SNVPathogenicrs367543265GRCh37Chr 9, 34649422: 34649422
164GALTNM_000155.3(GALT): c.922G> A (p.Glu308Lys)SNVPathogenicrs111033784GRCh37Chr 9, 34649424: 34649424
165GALTNM_000155.3(GALT): c.947G> A (p.Trp316Ter)SNVLikely pathogenic, Pathogenicrs111033790GRCh37Chr 9, 34649449: 34649449
166GALTNM_000155.3(GALT): c.948G> A (p.Trp316Ter)SNVPathogenicrs111033791GRCh37Chr 9, 34649450: 34649450
167GALTNM_000155.3(GALT): c.949delC (p.Gln317Serfs)deletionPathogenicrs111033785GRCh37Chr 9, 34649451: 34649451
168GALTNM_000155.3(GALT): c.951G> T (p.Gln317His)SNVPathogenicrs111033787GRCh37Chr 9, 34649453: 34649453
169GALTNM_000155.3(GALT): c.952delC (p.Leu318Cysfs)deletionPathogenicrs111033788GRCh37Chr 9, 34649454: 34649454
170GALTNM_000155.3(GALT): c.958G> A (p.Ala320Thr)SNVLikely pathogenic, Pathogenicrs111033795GRCh37Chr 9, 34649460: 34649460
171GALTNM_000155.3(GALT): c.961C> T (p.His321Tyr)SNVPathogenicrs367543266GRCh37Chr 9, 34649463: 34649463
172GALTNM_000155.3(GALT): c.967T> G (p.Tyr323Asp)SNVPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
173GALTNM_000155.3(GALT): c.967T> C (p.Tyr323His)SNVPathogenicrs111033796GRCh37Chr 9, 34649469: 34649469
174GALTNM_000155.3(GALT): c.968A> G (p.Tyr323Cys)SNVPathogenicrs367543267GRCh37Chr 9, 34649470: 34649470
175GALTNM_000155.3(GALT): c.970C> T (p.Pro324Ser)SNVPathogenicrs111033798GRCh37Chr 9, 34649472: 34649472
176GALTNM_000155.3(GALT): c.974C> T (p.Pro325Leu)SNVPathogenicrs111033794GRCh37Chr 9, 34649476: 34649476
177GALTNM_000155.3(GALT): c.976delC (p.Leu326Serfs)deletionPathogenicrs111033799GRCh37Chr 9, 34649478: 34649478
178GALTNM_000155.3(GALT): c.979delC (p.Leu327Cysfs)deletionPathogenicrs111033801GRCh37Chr 9, 34649481: 34649481
179GALTNM_000155.3(GALT): c.980T> C (p.Leu327Pro)SNVPathogenicrs111033832GRCh37Chr 9, 34649482: 34649482
180GALTNM_000155.3(GALT): c.983G> A (p.Arg328His)SNVPathogenicrs111033802GRCh37Chr 9, 34649485: 34649485
181GALTNM_000155.3(GALT): c.986C> T (p.Ser329Phe)SNVPathogenicrs111033803GRCh37Chr 9, 34649488: 34649488
182GALTNM_000155.3(GALT): c.989C> T (p.Ala330Val)SNVPathogenicrs111033804GRCh37Chr 9, 34649491: 34649491
183GALTNM_000155.3(GALT): c.998G> T (p.Arg333Leu)SNVPathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
184GALTNM_000155.3(GALT): c.1001A> G (p.Lys334Arg)SNVPathogenicrs111033809GRCh37Chr 9, 34649503: 34649503
185GALTNM_000155.3(GALT): c.1006A> T (p.Met336Leu)SNVPathogenicrs111033810GRCh37Chr 9, 34649508: 34649508
186GALTNM_000155.3(GALT): c.1014C> G (p.Gly338=)SNVLikely pathogenic, Pathogenicrs111033811GRCh37Chr 9, 34649516: 34649516
187GALTNM_000155.3(GALT): c.1018G> A (p.Glu340Lys)SNVPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
188GALTNM_000155.3(GALT): c.1018G> T (p.Glu340Ter)SNVPathogenicrs111033806GRCh37Chr 9, 34649520: 34649520
189GALTNM_000155.3(GALT): c.1024C> A (p.Leu342Ile)SNVPathogenicrs111033812GRCh37Chr 9, 34649526: 34649526
190GALTNM_000155.3(GALT): c.1030C> A (p.Gln344Lys)SNVPathogenicrs111033814GRCh37Chr 9, 34649532: 34649532
191GALTNM_000155.3(GALT): c.1034C> A (p.Ala345Asp)SNVPathogenicrs111033815GRCh37Chr 9, 34649536: 34649536
192GALTNM_000155.3(GALT): c.1047delC (p.Thr350Profs)deletionPathogenicrs111033816GRCh37Chr 9, 34649549: 34649549
193GALTNM_000155.3(GALT): c.1048A> G (p.Thr350Ala)SNVPathogenicrs111033817GRCh37Chr 9, 34649550: 34649550
194GALTNM_000155.3(GALT): c.1057C> T (p.Gln353Ter)SNVLikely pathogenic, Pathogenicrs111033818GRCh37Chr 9, 34649559: 34649559
195GALTNM_000155.3(GALT): c.1059+56C> TSNVPathogenicrs111033821GRCh37Chr 9, 34649617: 34649617
196GALTNM_000155.3(GALT): c.1060-1G> ASNVPathogenicrs367543268GRCh37Chr 9, 34650365: 34650365
197GALTNM_000155.3(GALT): c.1072delC (p.Leu358Terfs)deletionPathogenicrs397515629GRCh37Chr 9, 34650378: 34650378
198GALTNM_000155.3(GALT): c.1078_1083delGCACTTins20 (p.?)indelPathogenicrs515726228GRCh37Chr 9, 34650384: 34650389
199GALTNM_000155.3(GALT): c.1098C> A (p.Tyr366Ter)SNVPathogenicrs111033822GRCh37Chr 9, 34650404: 34650404
200GALTNM_000155.3(GALT): c.1108C> T (p.Gln370Ter)SNVPathogenicrs111033823GRCh37Chr 9, 34650414: 34650414
201GALTNM_000155.3(GALT): c.1132A> G (p.Ile378Val)SNVPathogenicrs111033819GRCh37Chr 9, 34650438: 34650438
202GALTNM_000155.3(GALT): c.1138T> C (p.Ter380Arg)SNVPathogenicrs111033824GRCh37Chr 9, 34650444: 34650444
203GALTNM_000155.3(GALT): c.1140A> C (p.Ter380Cys)SNVPathogenicrs111033827GRCh37Chr 9, 34650446: 34650446
204GALTNM_000155.3(GALT): c.790_792delCTAinsTAG (p.Leu264Ter)indelPathogenicrs367543270GRCh37Chr 9, 34648861: 34648863
205GALTNM_000155.3(GALT): c.71_72insA (p.Phe24Leufs)insertionPathogenicrs886042061GRCh37Chr 9, 34646772: 34646773
206GALTNM_000155.3(GALT): c.776G> A (p.Arg259Gln)SNVLikely pathogenicrs886042070GRCh37Chr 9, 34648847: 34648847
207GALTNM_000155.3(GALT): c.558C> A (p.His186Gln)SNVLikely pathogenicrs886042097GRCh37Chr 9, 34648162: 34648162
208GALENM_001008216.1(GALE): c.796-1G> TSNVPathogenicrs779828095GRCh37Chr 1, 24123077: 24123077
209GALTNM_000155.3(GALT): c.752_753delACinsCT (p.Tyr251Ser)indelLikely pathogenicrs886043390GRCh37Chr 9, 34648823: 34648824
210GALTNM_000155.3(GALT): c.513delT (p.Phe171Leufs)deletionPathogenicrs886044409GRCh37Chr 9, 34648117: 34648117
211GALTNM_000155.3(GALT): c.152G> A (p.Arg51Gln)SNVPathogenicrs111033648GRCh37Chr 9, 34647155: 34647155
212GALTNM_000155.3(GALT): c.425T> A (p.Met142Lys)SNVPathogenicrs111033695GRCh37Chr 9, 34647876: 34647876
213GALTNM_000155.3(GALT): c.997C> T (p.Arg333Trp)SNVLikely pathogenic, Pathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
214GALTNM_000155.3(GALT): c.130G> A (p.Val44Met)SNVPathogenicrs111033647GRCh37Chr 9, 34647133: 34647133
215GALTNM_000155.3(GALT): c.563A> G (p.Gln188Arg)SNVPathogenicrs75391579GRCh37Chr 9, 34648167: 34648167
216GALTNM_000155.3(GALT): c.203A> C (p.His68Pro)SNVLikely pathogenicrs193922247GRCh37Chr 9, 34647206: 34647206
217GALTNM_000155.3(GALT): c.385A> T (p.Met129Leu)SNVLikely pathogenicrs193922248GRCh37Chr 9, 34647836: 34647836
218GALTNM_000155.3(GALT): c.221T> C (p.Leu74Pro)SNVPathogenicrs111033663GRCh37Chr 9, 34647224: 34647224
219GALTNM_000155.3(GALT): c.687+1G> TSNVLikely pathogenicrs193922250GRCh37Chr 9, 34648454: 34648454
220GALTNM_000155.3(GALT): c.512T> C (p.Phe171Ser)SNVLikely pathogenic, Pathogenicrs111033715GRCh37Chr 9, 34648116: 34648116
221GALTNM_000155.3(GALT): c.957C> A (p.His319Gln)SNVLikely pathogenic, Pathogenicrs111033792GRCh37Chr 9, 34649459: 34649459
222GALTNM_000155.3(GALT): c.404C> T (p.Ser135Leu)SNVPathogenicrs111033690GRCh37Chr 9, 34647855: 34647855
223GALTNM_000155.3(GALT): c.547C> A (p.Pro183Thr)SNVPathogenicrs111033721GRCh37Chr 9, 34648151: 34648151
224GALTNM_000155.3(GALT): c.855G> T (p.Lys285Asn)SNVPathogenicrs111033773GRCh37Chr 9, 34649029: 34649029
225GALTNM_000155.3(GALT): c.607G> A (p.Glu203Lys)SNVPathogenicrs111033736GRCh37Chr 9, 34648373: 34648373
226GALTNM_000155.3(GALT): c.997C> G (p.Arg333Gly)SNVPathogenicrs111033800GRCh37Chr 9, 34649499: 34649499
227GALTNM_000155.3(GALT): c.580T> C (p.Phe194Leu)SNVPathogenicrs111033726GRCh37Chr 9, 34648346: 34648346
228GALENM_000403.3(GALE): c.548T> C (p.Leu183Pro)SNVPathogenicrs121908045GRCh37Chr 1, 24123618: 24123618
229GALENM_000403.3(GALE): c.101A> G (p.Asn34Ser)SNVPathogenicrs121908046GRCh37Chr 1, 24125397: 24125397
230GALENM_000403.3(GALE): c.269G> A (p.Gly90Glu)SNVPathogenicrs28940882GRCh37Chr 1, 24124689: 24124689
231GALENM_001008216.1(GALE): c.308A> G (p.Asp103Gly)SNVPathogenicrs28940883GRCh37Chr 1, 24124650: 24124650
232GALENM_000403.3(GALE): c.770A> G (p.Lys257Arg)SNVPathogenicrs28940884GRCh37Chr 1, 24123212: 24123212
233GALENM_001008216.1(GALE): c.937C> A (p.Leu313Met)SNVPathogenicrs3180383GRCh37Chr 1, 24122692: 24122692
234GALENM_000403.3(GALE): c.956G> A (p.Gly319Glu)SNVPathogenicrs28940885GRCh37Chr 1, 24122673: 24122673
235GALENM_000403.3(GALE): c.280G> A (p.Val94Met)SNVLikely pathogenic, Pathogenicrs121908047GRCh37Chr 1, 24124678: 24124678
236GALTNM_000155.3: c.627T> ASNVLikely pathogenicChr na, -1: -1
237GALTNM_000155.3: c.1048delAdeletionLikely pathogenicChr na, -1: -1
238GALTNM_000155.3: c.912dupCduplicationLikely pathogenicChr na, -1: -1
239GALTNM_000155.3: c.670delCdeletionLikely pathogenicChr na, -1: -1
240GALTNM_000155.3: c.502G> ASNVLikely pathogenicChr na, -1: -1
241GALTNM_000155.3: c.761dupTduplicationLikely pathogenicChr na, -1: -1
242GALTNM_000155.3: c.83-2A> GSNVLikely pathogenicChr na, -1: -1
243GALTNM_000155.3(GALT): c.777G> A (p.Arg259=)SNVPathogenicrs111033761GRCh37Chr 9, 34648848: 34648848
244GALTNM_000155.3(GALT): c.676C> G (p.Leu226Val)SNVPathogenicrs111033751GRCh37Chr 9, 34648442: 34648442
245GALTNM_000155.3(GALT): c.416T> C (p.Leu139Pro)SNVPathogenicrs111033687GRCh37Chr 9, 34647867: 34647867
246GALTNM_000155.3(GALT): c.950A> G (p.Gln317Arg)SNVPathogenicrs111033786GRCh37Chr 9, 34649452: 34649452
247GALTNM_000155.3(GALT): c.748C> A (p.Pro250Thr)SNVPathogenicrs111033759GRCh37Chr 9, 34648819: 34648819
248GALTNM_000155.3(GALT): c.82G> A (p.Asp28Asn)SNVPathogenicrs111033636GRCh37Chr 9, 34646783: 34646783
249GALTNM_000155.3(GALT): c.386T> C (p.Met129Thr)SNVPathogenicrs111033683GRCh37Chr 9, 34647837: 34647837
250GALTNM_000155.3(GALT): c.394C> T (p.His132Tyr)SNVPathogenicrs111033688GRCh37Chr 9, 34647845: 34647845
251GALTNM_000155.3(GALT): c.428C> T (p.Ser143Leu)SNVPathogenicrs111033697GRCh37Chr 9, 34647879: 34647879
252GALTNM_000155.3(GALT): c.442C> T (p.Arg148Trp)SNVPathogenicrs111033693GRCh37Chr 9, 34647893: 34647893
253GALTNM_000155.3(GALT): c.680T> C (p.Leu227Pro)SNVPathogenicrs111033846GRCh37Chr 9, 34648446: 34648446
254GALTNM_000155.3(GALT): c.815G> A (p.Arg272His)SNVPathogenicrs111033831GRCh37Chr 9, 34648886: 34648886
255GALTNM_000155.3(GALT): c.247G> A (p.Gly83Arg)SNVPathogenicrs111033660GRCh37Chr 9, 34647250: 34647250
256GALTM60091.1: c.772C> TSNVPathogenicChr na, -1: -1
257GALTNM_000155.3(GALT): c.163G> T (p.Gly55Cys)SNVPathogenicrs111033654GRCh37Chr 9, 34647166: 34647166
258GALTNM_000155.3(GALT): c.998G> A (p.Arg333Gln)SNVLikely pathogenic, Pathogenicrs111033808GRCh37Chr 9, 34649500: 34649500
259GALTNM_000155.3(GALT): c.857A> G (p.Tyr286Cys)SNVPathogenicrs367543262GRCh37Chr 9, 34649031: 34649031
260GALTNM_000155.3(GALT): c.220_221delCT (p.Leu74Valfs)deletionPathogenicrs111033662GRCh37Chr 9, 34647223: 34647224
261GALTNM_000155.3(GALT): c.398_399dupCC (p.Trp134Profs)duplicationPathogenicrs367543269GRCh37Chr 9, 34647849: 34647850
262GALTNM_000155.3(GALT): c.904+1G> TSNVPathogenicrs367543271GRCh37Chr 9, 34649079: 34649079
263GALTNM_000155.3(GALT): c.959C> T (p.Ala320Val)SNVLikely pathogenicrs367543272GRCh37Chr 9, 34649461: 34649461
264GALK1NM_000154.1(GALK1): c.94G> A (p.Val32Met)SNVPathogenicrs104894576GRCh37Chr 17, 73761124: 73761124
265GALK1NM_000154.1(GALK1): c.238G> T (p.Glu80Ter)SNVPathogenicrs104894577GRCh37Chr 17, 73760095: 73760095
266GALK1NM_000154.1(GALK1): c.82C> A (p.Pro28Thr)SNVPathogenicrs104894572GRCh37Chr 17, 73761136: 73761136
267GALK1NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter)SNVPathogenicrs111033608GRCh37Chr 17, 73754172: 73754172
268GALK1GALK1, 1-BP DEL, 761GdeletionPathogenicChr na, -1: -1
269GALK1NM_000154.1(GALK1): c.593C> T (p.Ala198Val)SNVPathogenicrs80084721GRCh37Chr 17, 73759113: 73759113
270GALTNM_000155.3(GALT): c.289_291delAAC (p.Asn97del)deletionLikely pathogenicrs398123179GRCh37Chr 9, 34647525: 34647527
271GALTNM_000155.3(GALT): c.508-1G> CSNVPathogenicrs398123181GRCh37Chr 9, 34648111: 34648111
272GALTNM_000155.3(GALT): c.565_578delGTATGGGCCAGCAG (p.Val189Phefs)deletionPathogenicrs398123183GRCh37Chr 9, 34648331: 34648344
273GALTNM_000155.3(GALT): c.568T> C (p.Trp190Arg)SNVLikely pathogenicrs398123184GRCh37Chr 9, 34648334: 34648334
274GALTNM_000155.3(GALT): c.688-2A> CSNVPathogenicrs398123185GRCh37Chr 9, 34648757: 34648757
275GALTNM_000155.3(GALT): c.772C> T (p.Arg258Cys)SNVPathogenicrs368166217GRCh37Chr 9, 34648843: 34648843
276GALTNM_000155.3(GALT): c.905-2A> GSNVPathogenicrs398123187GRCh37Chr 9, 34649405: 34649405
277GALTNM_000155.3(GALT): c.985T> C (p.Ser329Pro)SNVLikely pathogenicrs398123188GRCh37Chr 9, 34649487: 34649487

Expression for genes affiliated with Galactosemia

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Search GEO for disease gene expression data for Galactosemia.

Pathways for genes affiliated with Galactosemia

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GO Terms for genes affiliated with Galactosemia

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.6AGA, AKR1B1, AMH, BGLAP, CD36, GIF
2extracellular exosomeGO:00700627.6AGA, AKR1B1, ALDOB, FSHB, G6PD, GALE

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1galactose catabolic processGO:001938810.5GALE, GALK1, GALT
2galactose metabolic processGO:000601210.5GALE, GALK1, GALT
3NADP metabolic processGO:000673910.4G6PD, NOX1
4glucose 6-phosphate metabolic processGO:005115610.4G6PC, G6PD
5regulation of osteoclast differentiationGO:004567010.3BGLAP, FSHB
6response to foodGO:003209410.2G6PC, G6PD
7gluconeogenesisGO:000609410.2ALDOB, G6PC, SLC25A13
8interleukin-1 beta productionGO:003261110.1CASP1, IL1B
9phosphate-containing compound metabolic processGO:000679610.1G6PC, IMPA1
10response to stilbenoidGO:003563410.0CD36, IL1B
11response to ATPGO:003319810.0CASP1, IL1B
12response to vitamin DGO:00332809.9BGLAP, IL1B

Sources for Galactosemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet