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 56 52 58 73 36 13 54 39 71
Taldo Deficiency 56 58 73
Deficiency of Transaldolase 29 6
Eyaid Syndrome 56 73
Taldod 56 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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). Visit the Orphanet disease page for more resources.

MalaCards based summary : Transaldolase Deficiency, also known as taldo deficiency, is related to cutis laxa and thrombocytopenia, 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, skin and heart, and related phenotypes are anemia and cirrhosis

OMIM : 56 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)

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 : 73 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 : 74 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 45)
# 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 functional respiratory abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002795
17 biventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0200128
18 splenomegaly 31 HP:0001744
19 hepatomegaly 31 HP:0002240
20 depressed nasal bridge 31 HP:0005280
21 short neck 31 HP:0000470
22 failure to thrive 31 HP:0001508
23 edema 58 Frequent (79-30%)
24 intrauterine growth retardation 31 HP:0001511
25 low-set ears 31 HP:0000369
26 hepatic fibrosis 31 HP:0001395
27 wide mouth 31 HP:0000154
28 patent ductus arteriosus 31 HP:0001643
29 deep philtrum 31 HP:0002002
30 short philtrum 31 HP:0000322
31 ventricular septal defect 31 HP:0001629
32 asthma 31 HP:0002099
33 thin vermilion border 31 HP:0000233
34 triangular face 31 HP:0000325
35 wide anterior fontanel 31 HP:0000260
36 synophrys 31 HP:0000664
37 oligohydramnios 31 HP:0001562
38 poor suck 31 HP:0002033
39 small for gestational age 31 HP:0001518
40 pancytopenia 31 HP:0001876
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 micronodular cirrhosis 31 HP:0001413

Symptoms via clinical synopsis from OMIM:

56
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

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, Skin, Heart, Kidney

Publications for Transaldolase Deficiency

Articles related to Transaldolase Deficiency:

(show all 36)
# Title Authors PMID Year
1
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. 56 6 54 61
11283793 2001
2
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. 61 56 6
29923087 2019
3
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. 61 56 6
23315216 2013
4
Transaldolase deficiency in a two-year-old boy with cirrhosis. 54 56 61
18331807 2008
5
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. 61 56
27130472 2017
6
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. 61 56
26238251 2016
7
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. 61 56
25388407 2015
8
Transaldolase: from biochemistry to human disease. 54 61
19401148 2009
9
Transaldolase deficiency in two new patients with a relative mild phenotype. 61 54
19299175 2009
10
Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life. 61 54
18987485 2009
11
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. 61 54
18987987 2008
12
Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing. 61 54
18498245 2008
13
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis. 54 61
18444224 2008
14
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. 61 54
17603756 2007
15
The pathogenesis of transaldolase deficiency. 54 61
17613166 2007
16
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. 61 54
17095351 2006
17
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. 61 54
15877206 2005
18
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. 54 61
16435188 2005
19
Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. 54 61
15115436 2004
20
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. 61 54
12881455 2003
21
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype. 61
32506314 2020
22
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. 61
30740741 2019
23
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients. 61
29292491 2018
24
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process]. 61
30056406 2018
25
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 61
28409271 2017
26
Antenatal manifestations of inborn errors of metabolism: biological diagnosis. 61
27393412 2016
27
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
28
Clinical and molecular characteristics of two transaldolase-deficient patients. 61
24497183 2014
29
Pulmonary manifestations in a patient with transaldolase deficiency. 61
23846909 2014
30
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. 61
24097415 2014
31
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. 61
22884749 2012
32
Nephrological abnormalities in patients with transaldolase deficiency. 61
22510381 2012
33
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. 61
21119539 2011
34
[A newly discovered metabolic diseases due to defects in the pentose pathway]. 61
21913417 2011
35
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. 61
20600873 2010
36
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TALDO1 NM_006755.2(TALDO1):c.699C>G (p.Val233=)SNV Pathogenic 916039 11:763808-763808 11:763808-763808
2 TALDO1 NM_006755.2(TALDO1):c.512_514del (p.Ser171del)deletion Pathogenic 7562 rs137853085 11:763392-763394 11:763392-763394
3 TALDO1 NM_006755.2(TALDO1):c.793del (p.Gln265fs)deletion Pathogenic 162622 rs727502867 11:763902-763902 11:763902-763902
4 TALDO1 NM_006755.1(TALDO1):c.516dupCduplication Pathogenic 208617 rs797045110 11:763397-763398 11:763397-763398
5 TALDO1 NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)SNV Pathogenic 625864 rs753787975 11:764383-764383 11:764383-764383
6 TALDO1 NM_006755.2(TALDO1):c.930C>T (p.Asp310=)SNV Conflicting interpretations of pathogenicity 730798 11:764382-764382 11:764382-764382
7 TALDO1 NM_006755.2(TALDO1):c.36G>A (p.Glu12=)SNV Conflicting interpretations of pathogenicity 747285 11:747517-747517 11:747517-747517
8 TALDO1 NM_006755.2(TALDO1):c.575G>A (p.Arg192His)SNV Conflicting interpretations of pathogenicity 420180 rs151052416 11:763457-763457 11:763457-763457
9 TALDO1 NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)SNV Conflicting interpretations of pathogenicity 381759 rs751425603 11:763456-763456 11:763456-763456
10 TALDO1 NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)SNV Uncertain significance 306127 rs149640294 11:755962-755962 11:755962-755962
11 TALDO1 NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)SNV Uncertain significance 306132 rs144914498 11:763357-763357 11:763357-763357
12 TALDO1 NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)SNV Uncertain significance 800779 11:763486-763486 11:763486-763486
13 TALDO1 NM_006755.2(TALDO1):c.-6C>TSNV Uncertain significance 883045 11:747476-747476 11:747476-747476
14 TALDO1 NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)SNV Uncertain significance 883971 11:760148-760148 11:760148-760148
15 TALDO1 NM_006755.2(TALDO1):c.480C>T (p.His160=)SNV Uncertain significance 880684 11:763362-763362 11:763362-763362
16 TALDO1 NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)SNV Uncertain significance 880685 11:763815-763815 11:763815-763815
17 TALDO1 NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)SNV Uncertain significance 880686 11:763893-763893 11:763893-763893
18 TALDO1 NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)SNV Uncertain significance 882093 11:764408-764408 11:764408-764408
19 TALDO1 NM_006755.2(TALDO1):c.462-4G>ASNV Uncertain significance 883972 11:763340-763340 11:763340-763340
20 TALDO1 NM_006755.1(TALDO1):c.-37T>CSNV Uncertain significance 306083 rs886048655 11:747445-747445 11:747445-747445
21 TALDO1 NM_006755.1(TALDO1):c.-30C>TSNV Uncertain significance 306086 rs373293125 11:747452-747452 11:747452-747452
22 TALDO1 NM_006755.2(TALDO1):c.402C>T (p.Ile134=)SNV Uncertain significance 306130 rs886048663 11:760194-760194 11:760194-760194
23 TALDO1 NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)SNV Uncertain significance 306133 rs147961544 11:763358-763358 11:763358-763358
24 TALDO1 NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)SNV Uncertain significance 306140 rs186015859 11:764423-764423 11:764423-764423
25 TALDO1 NM_006755.2(TALDO1):c.78C>G (p.Ala26=)SNV Uncertain significance 306089 rs886048659 11:747559-747559 11:747559-747559
26 TALDO1 NM_006755.2(TALDO1):c.461+14C>TSNV Uncertain significance 306131 rs373077928 11:760267-760267 11:760267-760267
27 TALDO1 NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)SNV Uncertain significance 306138 rs866261597 11:764404-764404 11:764404-764404
28 TALDO1 NM_006755.2(TALDO1):c.982-8_982-5delshort repeat Uncertain significance 306141 rs773135701 11:764800-764803 11:764800-764803
29 TALDO1 NM_006755.2(TALDO1):c.*12G>ASNV Uncertain significance 306143 rs369845141 11:764857-764857 11:764857-764857
30 TALDO1 NM_006755.2(TALDO1):c.*30C>TSNV Uncertain significance 306144 rs200971004 11:764875-764875 11:764875-764875
31 TALDO1 NM_006755.1(TALDO1):c.-21_-19dupCGCshort repeat Uncertain significance 306084 rs71464113 11:747445-747446 11:747445-747446
32 TALDO1 NM_006755.2(TALDO1):c.48C>T (p.Asp16=)SNV Uncertain significance 306087 rs886048658 11:747529-747529 11:747529-747529
33 TALDO1 NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)SNV Uncertain significance 306088 rs144787855 11:747549-747549 11:747549-747549
34 TALDO1 NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)SNV Uncertain significance 306128 rs146282855 11:755978-755978 11:755978-755978
35 TALDO1 NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)SNV Uncertain significance 306129 rs758756190 11:759021-759021 11:759021-759021
36 TALDO1 NM_006755.2(TALDO1):c.488A>G (p.His163Arg)SNV Uncertain significance 306134 rs886048664 11:763370-763370 11:763370-763370
37 TALDO1 NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)SNV Uncertain significance 306135 rs765872752 11:763771-763771 11:763771-763771
38 TALDO1 NM_006755.2(TALDO1):c.726C>T (p.Gly242=)SNV Uncertain significance 306136 rs764708645 11:763835-763835 11:763835-763835
39 TALDO1 NM_006755.2(TALDO1):c.*33C>TSNV Uncertain significance 306145 rs375388046 11:764878-764878 11:764878-764878
40 TALDO1 NM_006755.1(TALDO1):c.*192G>ASNV Likely benign 368974 rs7933290 11:765037-765037 11:765037-765037
41 TALDO1 NM_006755.1(TALDO1):c.-30_-19delCGCCGCCGCCGCshort repeat Likely benign 306085 rs71464113 11:747446-747457 11:747446-747457
42 TALDO1 NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg)SNV Benign/Likely benign 306139 rs11302 11:764414-764414 11:764414-764414
43 TALDO1 NM_006755.2(TALDO1):c.*9T>CSNV Benign 306142 rs7939103 11:764854-764854 11:764854-764854
44 TALDO1 NM_006755.2(TALDO1):c.801C>T (p.Asn267=)SNV Benign 306137 rs142263629 11:763910-763910 11:763910-763910
45 TALDO1 NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)SNV not provided 684557 11:760201-760201 11:760201-760201

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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