TALDOD
MCID: TRN021
MIFTS: 43

Transaldolase Deficiency (TALDOD)

Categories: Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Transaldolase Deficiency

MalaCards integrated aliases for Transaldolase Deficiency:

Name: Transaldolase Deficiency 57 20 58 72 36 13 54 39 70
Taldo Deficiency 57 58 72
Deficiency of Transaldolase 29 6
Eyaid Syndrome 57 72
Taldod 57 72

Characteristics:

Orphanet epidemiological data:

58
transaldolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable clinical presentation that may change with age


HPO:

31
transaldolase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Transaldolase Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin. Clinical description Dysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely. Etiology The disorder is caused by mutations in the transaldolase gene ( TALDO1, 11p15.5-p15.4).

MalaCards based summary : Transaldolase Deficiency, also known as taldo deficiency, is related to liver disease and cutis laxa, and has symptoms including hepatosplenomegaly An important gene associated with Transaldolase Deficiency is TALDO1 (Transaldolase 1), and among its related pathways/superpathways are Pentose phosphate pathway and Glycosaminoglycan metabolism. Affiliated tissues include liver, kidney and heart, and related phenotypes are anemia and cirrhosis

OMIM® : 57 Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019). (606003) (Updated 20-May-2021)

KEGG : 36 Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes the PPP. The severity of the symptoms can vary, ranging from fetal hydrops to slowly progressive liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart problems. The biochemical profile indicates an elevated level of erythritol, arabitol, ribitol, sedoheptitol, perseitol, sedoheptulose, mannoheptulose, and sedoheptulose-7P. The disorder is caused by mutations in the TALDO gene.

UniProtKB/Swiss-Prot : 72 Transaldolase deficiency: An inborn error of the pentose phosphate pathway resulting in early- onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency.

Wikipedia : 73 Transaldolase deficiency is a disease characterised by abnormally low levels of the Transaldolase... more...

Related Diseases for Transaldolase Deficiency

Graphical network of the top 20 diseases related to Transaldolase Deficiency:



Diseases related to Transaldolase Deficiency

Symptoms & Phenotypes for Transaldolase Deficiency

Human phenotypes related to Transaldolase Deficiency:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001394
3 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
4 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
5 increased serum bile acid concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012202
6 abnormal circulating glutamine concentration 31 hallmark (90%) HP:0010903
7 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
8 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
9 abnormality of the kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000077
10 telangiectasia 58 31 frequent (33%) Frequent (79-30%) HP:0001009
11 abnormality of the clitoris 58 31 frequent (33%) Frequent (79-30%) HP:0000056
12 premature skin wrinkling 58 31 frequent (33%) Frequent (79-30%) HP:0100678
13 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
14 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
15 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
16 biventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0200128
17 abnormal respiratory system physiology 31 occasional (7.5%) HP:0002795
18 failure to thrive 31 HP:0001508
19 short neck 31 HP:0000470
20 splenomegaly 31 HP:0001744
21 hepatomegaly 31 HP:0002240
22 depressed nasal bridge 31 HP:0005280
23 intrauterine growth retardation 31 HP:0001511
24 low-set ears 31 HP:0000369
25 hepatic fibrosis 31 HP:0001395
26 wide mouth 31 HP:0000154
27 patent ductus arteriosus 31 HP:0001643
28 deep philtrum 31 HP:0002002
29 short philtrum 31 HP:0000322
30 ventricular septal defect 31 HP:0001629
31 asthma 31 HP:0002099
32 thin vermilion border 31 HP:0000233
33 triangular face 31 HP:0000325
34 wide anterior fontanel 31 HP:0000260
35 synophrys 31 HP:0000664
36 oligohydramnios 31 HP:0001562
37 poor suck 31 HP:0002033
38 small for gestational age 31 HP:0001518
39 pancytopenia 31 HP:0001876
40 edema 58 Frequent (79-30%)
41 decreased liver function 31 HP:0001410
42 clitoral hypertrophy 31 HP:0008665
43 patent foramen ovale 31 HP:0001655
44 abnormality of glutamine metabolism 58 Very frequent (99-80%)
45 functional respiratory abnormality 58 Occasional (29-5%)
46 micronodular cirrhosis 31 HP:0001413

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly
hepatosplenomegaly

Head And Neck Nose:
depressed nasal bridge

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
wide mouth
thin lips

Head And Neck Face:
short philtrum
triangular face
prominent philtrum

Genitourinary External Genitalia Female:
clitoromegaly

Head And Neck Eyes:
synophrys

Abdomen Gastrointestinal:
poor suck
meconium plug (in 1 patient)
hyperechogenic bowel seen on prenatal ultrasound (in 1 patient)

Neurologic Central Nervous System:
normal development

Growth Height:
poor vertical growth

Skin Nails Hair Skin:
wrinkled forehead at birth (in some patients)
wrinkly skin at birth

Endocrine Features:
hypothyroidism (in 1 patient)

Abdomen Liver:
hepatomegaly
hepatosplenomegaly
micronodular cirrhosis
hepatic fibrosis, congenital
liver dysfunction
more
Hematology:
anemia
thrombocytopenia
pancytopenia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale
dilated left ventricle
congenital heart defect, variable (in most patients)

Cardiovascular Vascular:
patent ductus arteriosus
aortic coarctation

Respiratory Airways:
asthma

Skeletal Skull:
wide anterior fontanel

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Growth Weight:
low birth weight
poor weight gain
intrauterine growth restriction (iugr)
weight for height below normal

Genitourinary External Genitalia Male:
small phallus

Head And Neck Neck:
short neck with excessive skin folds

Muscle Soft Tissue:
neonatal edema (in some patients)

Clinical features from OMIM®:

606003 (Updated 20-May-2021)

UMLS symptoms related to Transaldolase Deficiency:


hepatosplenomegaly

Drugs & Therapeutics for Transaldolase Deficiency

Search Clinical Trials , NIH Clinical Center for Transaldolase Deficiency

Genetic Tests for Transaldolase Deficiency

Genetic tests related to Transaldolase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Transaldolase 29 TALDO1

Anatomical Context for Transaldolase Deficiency

MalaCards organs/tissues related to Transaldolase Deficiency:

40
Liver, Kidney, Heart

Publications for Transaldolase Deficiency

Articles related to Transaldolase Deficiency:

(show all 39)
# Title Authors PMID Year
1
Transaldolase deficiency in a two-year-old boy with cirrhosis. 6 57 61 54
18331807 2008
2
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. 54 61 57 6
11283793 2001
3
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. 61 57 6
29923087 2019
4
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. 61 57 6
26238251 2016
5
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. 57 61 6
25388407 2015
6
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. 57 6 61
23315216 2013
7
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. 57 61
32828637 2020
8
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. 61 57
27130472 2017
9
Transaldolase: from biochemistry to human disease. 54 61
19401148 2009
10
Transaldolase deficiency in two new patients with a relative mild phenotype. 61 54
19299175 2009
11
Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life. 54 61
18987485 2009
12
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. 61 54
18987987 2008
13
Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing. 61 54
18498245 2008
14
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis. 61 54
18444224 2008
15
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. 61 54
17603756 2007
16
The pathogenesis of transaldolase deficiency. 61 54
17613166 2007
17
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. 61 54
17095351 2006
18
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. 61 54
15877206 2005
19
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. 61 54
16435188 2005
20
Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. 61 54
15115436 2004
21
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. 61 54
12881455 2003
22
Deficyt aktywności transaldolazy - Obraz kliniczny, patogeneza, diagnostyka. 61
33742968 2021
23
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway. 61
33159679 2020
24
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype. 61
32506314 2020
25
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. 61
30740741 2019
26
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process]. 61
30056406 2018
27
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients. 61
29292491 2018
28
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 61
28409271 2017
29
Antenatal manifestations of inborn errors of metabolism: biological diagnosis. 61
27393412 2016
30
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
31
Clinical and molecular characteristics of two transaldolase-deficient patients. 61
24497183 2014
32
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. 61
24097415 2014
33
Pulmonary manifestations in a patient with transaldolase deficiency. 61
23846909 2014
34
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. 61
22884749 2012
35
Nephrological abnormalities in patients with transaldolase deficiency. 61
22510381 2012
36
[A newly discovered metabolic diseases due to defects in the pentose pathway]. 61
21913417 2011
37
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. 61
21119539 2011
38
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. 61
20600873 2010
39
Study of transaldolase deficiency in urine samples by capillary LC-MS/MS. 61
16470722 2006

Variations for Transaldolase Deficiency

ClinVar genetic disease variations for Transaldolase Deficiency:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TALDO1 NM_006755.2(TALDO1):c.512_514del (p.Ser171del) Deletion Pathogenic 7562 rs137853085 GRCh37: 11:763392-763394
GRCh38: 11:763392-763394
2 TALDO1 NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) SNV Pathogenic 625864 rs753787975 GRCh37: 11:764383-764383
GRCh38: 11:764383-764383
3 TALDO1 NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly) SNV Pathogenic 812704 rs201836196 GRCh37: 11:763824-763824
GRCh38: 11:763824-763824
4 TALDO1 NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter) SNV Pathogenic 974772 GRCh37: 11:763778-763778
GRCh38: 11:763778-763778
5 TALDO1 NM_006755.1(TALDO1):c.516dupC Duplication Pathogenic 208617 rs797045110 GRCh37: 11:763397-763398
GRCh38: 11:763397-763398
6 TALDO1 NM_006755.2(TALDO1):c.836-1G>A SNV Pathogenic 1034305 GRCh37: 11:764287-764287
GRCh38: 11:764287-764287
7 TALDO1 NM_006755.2(TALDO1):c.793del (p.Gln265fs) Deletion Pathogenic 162622 rs727502867 GRCh37: 11:763902-763902
GRCh38: 11:763902-763902
8 TALDO1 NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) SNV Uncertain significance 381759 rs751425603 GRCh37: 11:763456-763456
GRCh38: 11:763456-763456
9 TALDO1 NM_006755.1(TALDO1):c.-37T>C SNV Uncertain significance 306083 rs886048655 GRCh37: 11:747445-747445
GRCh38: 11:747445-747445
10 TALDO1 NM_006755.1(TALDO1):c.-30C>T SNV Uncertain significance 306086 rs373293125 GRCh37: 11:747452-747452
GRCh38: 11:747452-747452
11 TALDO1 NM_006755.2(TALDO1):c.575G>A (p.Arg192His) SNV Uncertain significance 420180 rs151052416 GRCh37: 11:763457-763457
GRCh38: 11:763457-763457
12 TALDO1 NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) SNV Uncertain significance 306129 rs758756190 GRCh37: 11:759021-759021
GRCh38: 11:759021-759021
13 TALDO1 NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) SNV Uncertain significance 306127 rs149640294 GRCh37: 11:755962-755962
GRCh38: 11:755962-755962
14 TALDO1 NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) SNV Uncertain significance 1028548 GRCh37: 11:764340-764340
GRCh38: 11:764340-764340
15 TALDO1 NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) SNV Uncertain significance 1028549 GRCh37: 11:764813-764813
GRCh38: 11:764813-764813
16 TALDO1 NM_006755.2(TALDO1):c.330-10_330delinsAGA Indel Uncertain significance 1034304 GRCh37: 11:760112-760122
GRCh38: 11:760112-760122
17 TALDO1 NM_006755.1(TALDO1):c.-21_-19dupCGC Microsatellite Uncertain significance 306084 rs71464113 GRCh37: 11:747445-747446
GRCh38: 11:747445-747446
18 TALDO1 NM_006755.2(TALDO1):c.726C>T (p.Gly242=) SNV Uncertain significance 306136 rs764708645 GRCh37: 11:763835-763835
GRCh38: 11:763835-763835
19 TALDO1 NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) SNV Uncertain significance 800779 rs140985565 GRCh37: 11:763486-763486
GRCh38: 11:763486-763486
20 TALDO1 NM_006755.2(TALDO1):c.930C>T (p.Asp310=) SNV Uncertain significance 730798 rs181385165 GRCh37: 11:764382-764382
GRCh38: 11:764382-764382
21 TALDO1 NM_006755.2(TALDO1):c.36G>A (p.Glu12=) SNV Uncertain significance 747285 rs150420496 GRCh37: 11:747517-747517
GRCh38: 11:747517-747517
22 TALDO1 NM_006755.2(TALDO1):c.884G>A (p.Arg295His) SNV Uncertain significance 973478 GRCh37: 11:764336-764336
GRCh38: 11:764336-764336
23 TALDO1 NM_006755.2(TALDO1):c.480C>T (p.His160=) SNV Uncertain significance 880684 GRCh37: 11:763362-763362
GRCh38: 11:763362-763362
24 TALDO1 NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) SNV Uncertain significance 880685 GRCh37: 11:763815-763815
GRCh38: 11:763815-763815
25 TALDO1 NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) SNV Uncertain significance 880686 GRCh37: 11:763893-763893
GRCh38: 11:763893-763893
26 TALDO1 NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) SNV Uncertain significance 882093 GRCh37: 11:764408-764408
GRCh38: 11:764408-764408
27 TALDO1 NM_006755.2(TALDO1):c.-6C>T SNV Uncertain significance 883045 GRCh37: 11:747476-747476
GRCh38: 11:747476-747476
28 TALDO1 NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) SNV Uncertain significance 883971 GRCh37: 11:760148-760148
GRCh38: 11:760148-760148
29 TALDO1 NM_006755.2(TALDO1):c.462-4G>A SNV Uncertain significance 883972 GRCh37: 11:763340-763340
GRCh38: 11:763340-763340
30 TALDO1 NM_006755.2(TALDO1):c.78C>G (p.Ala26=) SNV Uncertain significance 306089 rs886048659 GRCh37: 11:747559-747559
GRCh38: 11:747559-747559
31 TALDO1 NM_006755.2(TALDO1):c.*33C>T SNV Uncertain significance 306145 rs375388046 GRCh37: 11:764878-764878
GRCh38: 11:764878-764878
32 TALDO1 NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) SNV Uncertain significance 306128 rs146282855 GRCh37: 11:755978-755978
GRCh38: 11:755978-755978
33 TALDO1 NM_006755.2(TALDO1):c.488A>G (p.His163Arg) SNV Uncertain significance 306134 rs886048664 GRCh37: 11:763370-763370
GRCh38: 11:763370-763370
34 TALDO1 NM_006755.2(TALDO1):c.461+14C>T SNV Uncertain significance 306131 rs373077928 GRCh37: 11:760267-760267
GRCh38: 11:760267-760267
35 TALDO1 NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) SNV Uncertain significance 306140 rs186015859 GRCh37: 11:764423-764423
GRCh38: 11:764423-764423
36 TALDO1 NM_006755.2(TALDO1):c.48C>T (p.Asp16=) SNV Uncertain significance 306087 rs886048658 GRCh37: 11:747529-747529
GRCh38: 11:747529-747529
37 TALDO1 NM_006755.2(TALDO1):c.*12G>A SNV Uncertain significance 306143 rs369845141 GRCh37: 11:764857-764857
GRCh38: 11:764857-764857
38 TALDO1 NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys) SNV Uncertain significance 306135 rs765872752 GRCh37: 11:763771-763771
GRCh38: 11:763771-763771
39 TALDO1 NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu) SNV Uncertain significance 306132 rs144914498 GRCh37: 11:763357-763357
GRCh38: 11:763357-763357
40 TALDO1 NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) SNV Uncertain significance 306138 rs866261597 GRCh37: 11:764404-764404
GRCh38: 11:764404-764404
41 TALDO1 NM_006755.2(TALDO1):c.*30C>T SNV Uncertain significance 306144 rs200971004 GRCh37: 11:764875-764875
GRCh38: 11:764875-764875
42 TALDO1 NM_006755.2(TALDO1):c.982-8_982-5del Microsatellite Uncertain significance 306141 rs773135701 GRCh37: 11:764800-764803
GRCh38: 11:764800-764803
43 TALDO1 NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) SNV Uncertain significance 306088 rs144787855 GRCh37: 11:747549-747549
GRCh38: 11:747549-747549
44 TALDO1 NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg) SNV Uncertain significance 306133 rs147961544 GRCh37: 11:763358-763358
GRCh38: 11:763358-763358
45 TALDO1 NM_006755.2(TALDO1):c.402C>T (p.Ile134=) SNV Uncertain significance 306130 rs886048663 GRCh37: 11:760194-760194
GRCh38: 11:760194-760194
46 TALDO1 NM_006755.1(TALDO1):c.*192G>A SNV Likely benign 368974 rs7933290 GRCh37: 11:765037-765037
GRCh38: 11:765037-765037
47 TALDO1 NM_006755.1(TALDO1):c.-30_-19del Microsatellite Likely benign 306085 rs71464113 GRCh37: 11:747446-747457
GRCh38: 11:747446-747457
48 TALDO1 NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) SNV Benign 306139 rs11302 GRCh37: 11:764414-764414
GRCh38: 11:764414-764414
49 TALDO1 NM_006755.2(TALDO1):c.801C>T (p.Asn267=) SNV Benign 306137 rs142263629 GRCh37: 11:763910-763910
GRCh38: 11:763910-763910
50 TALDO1 NM_006755.2(TALDO1):c.*9T>C SNV Benign 306142 rs7939103 GRCh37: 11:764854-764854
GRCh38: 11:764854-764854

Expression for Transaldolase Deficiency

Search GEO for disease gene expression data for Transaldolase Deficiency.

Pathways for Transaldolase Deficiency

Pathways related to Transaldolase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030

GO Terms for Transaldolase Deficiency

Biological processes related to Transaldolase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pentose-phosphate shunt GO:0006098 9.16 TKT TALDO1
2 pentose-phosphate shunt, non-oxidative branch GO:0009052 8.96 TKT TALDO1
3 xylulose biosynthetic process GO:0005999 8.62 TKT TALDO1

Molecular functions related to Transaldolase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.62 TKT TALDO1

Sources for Transaldolase Deficiency

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