TALDOD
MCID: TRN021
MIFTS: 37

Transaldolase Deficiency (TALDOD)

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

Aliases & Classifications for Transaldolase Deficiency

MalaCards integrated aliases for Transaldolase Deficiency:

Name: Transaldolase Deficiency 58 54 60 76 38 13 56 41 74
Taldo Deficiency 58 60 76
Deficiency of Transaldolase 30 6
Eyaid Syndrome 58 76
Taldod 76

Characteristics:

Orphanet epidemiological data:

60
transaldolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable clinical presentation that may change with age


HPO:

33
transaldolase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Transaldolase Deficiency

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101028Disease definitionTransaldolase 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.EpidemiologyLess than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin.Clinical descriptionDysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely.EtiologyThe 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 infantile liver failure syndrome 1 and hepatocellular carcinoma, 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 skin and kidney, and related phenotypes are anemia and cirrhosis

OMIM : 58 Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019). (606003)

UniProtKB/Swiss-Prot : 76 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 : 77 Transaldolase is an enzyme (EC 2.2.1.2) of the non-oxidative phase of the pentose phosphate pathway. In... more...

Related Diseases for Transaldolase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 infantile liver failure syndrome 1 10.3
2 hepatocellular carcinoma 10.0
3 lymphatic malformation 7 10.0
4 liver cirrhosis 10.0
5 fetal edema 10.0
6 hydrops fetalis 10.0

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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
2 cirrhosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001394
3 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
4 hepatosplenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001433
5 increased serum bile acid concentration 60 33 hallmark (90%) Very frequent (99-80%) HP:0012202
6 abnormal circulating glutamine concentration 33 hallmark (90%) HP:0010903
7 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
8 hydrops fetalis 60 33 frequent (33%) Frequent (79-30%) HP:0001789
9 abnormality of the kidney 60 33 frequent (33%) Frequent (79-30%) HP:0000077
10 telangiectasia 60 33 frequent (33%) Frequent (79-30%) HP:0001009
11 premature skin wrinkling 60 33 frequent (33%) Frequent (79-30%) HP:0100678
12 abnormality of the clitoris 60 33 frequent (33%) Frequent (79-30%) HP:0000056
13 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
14 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
15 coarctation of aorta 60 33 occasional (7.5%) Occasional (29-5%) HP:0001680
16 functional respiratory abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002795
17 biventricular hypertrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0200128
18 low-set ears 33 HP:0000369
19 failure to thrive 33 HP:0001508
20 splenomegaly 33 HP:0001744
21 hepatomegaly 33 HP:0002240
22 depressed nasal bridge 33 HP:0005280
23 decreased liver function 33 HP:0001410
24 pancytopenia 33 HP:0001876
25 edema 60 Frequent (79-30%)
26 patent ductus arteriosus 33 HP:0001643
27 intrauterine growth retardation 33 HP:0001511
28 hepatic fibrosis 33 HP:0001395
29 wide mouth 33 HP:0000154
30 short philtrum 33 HP:0000322
31 ventricular septal defect 33 HP:0001629
32 asthma 33 HP:0002099
33 deep philtrum 33 HP:0002002
34 wide anterior fontanel 33 HP:0000260
35 oligohydramnios 33 HP:0001562
36 thin vermilion border 33 HP:0000233
37 triangular face 33 HP:0000325
38 synophrys 33 HP:0000664
39 poor suck 33 HP:0002033
40 patent foramen ovale 33 HP:0001655
41 small for gestational age 33 HP:0001518
42 clitoral hypertrophy 33 HP:0008665
43 micronodular cirrhosis 33 HP:0001413
44 abnormality of glutamine metabolism 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

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

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

Head And Neck Face:
short philtrum
triangular face
prominent philtrum

Skeletal Skull:
wide anterior fontanel

Head And Neck Eyes:
synophrys

Abdomen Gastrointestinal:
poor suck

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

Abdomen Spleen:
splenomegaly
hepatosplenomegaly

Head And Neck Nose:
depressed nasal bridge

Cardiovascular Vascular:
patent ductus arteriosus
aortic coarctation

Head And Neck Mouth:
wide mouth
thin lips

Respiratory Airways:
asthma

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary External Genitalia Female:
clitoromegaly

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 30 TALDO1

Anatomical Context for Transaldolase Deficiency

MalaCards organs/tissues related to Transaldolase Deficiency:

42
Skin, Kidney

Publications for Transaldolase Deficiency

Articles related to Transaldolase Deficiency:

(show all 23)
# Title Authors Year
1
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. ( 29923087 )
2019
2
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. ( 30740741 )
2019
3
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients. ( 29721915 )
2018
4
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. ( 27130472 )
2017
5
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. ( 26238251 )
2016
6
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. ( 25388407 )
2015
7
Pulmonary manifestations in a patient with transaldolase deficiency. ( 23846909 )
2014
8
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. ( 24097415 )
2014
9
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. ( 23315216 )
2013
10
Nephrological abnormalities in patients with transaldolase deficiency. ( 22510381 )
2012
11
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. ( 21119539 )
2011
12
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. ( 20600873 )
2010
13
Transaldolase deficiency in two new patients with a relative mild phenotype. ( 19299175 )
2009
14
Transaldolase deficiency in a two-year-old boy with cirrhosis. ( 18331807 )
2008
15
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis. ( 18444224 )
2008
16
Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing. ( 18498245 )
2008
17
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. ( 17603756 )
2007
18
The pathogenesis of transaldolase deficiency. ( 17613166 )
2007
19
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. ( 17095351 )
2006
20
Study of transaldolase deficiency in urine samples by capillary LC-MS/MS. ( 16470722 )
2006
21
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. ( 15877206 )
2005
22
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. ( 12881455 )
2003
23
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. ( 11283793 )
2001

Variations for Transaldolase Deficiency

ClinVar genetic disease variations for Transaldolase Deficiency:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 TALDO1 NM_006755.1(TALDO1): c.511_513delTCC (p.Ser171del) deletion Pathogenic rs137853085 GRCh37 Chromosome 11, 763393: 763395
2 TALDO1 NM_006755.1(TALDO1): c.511_513delTCC (p.Ser171del) deletion Pathogenic rs137853085 GRCh38 Chromosome 11, 763393: 763395
3 TALDO1 NM_006755.1(TALDO1): c.793delC (p.Gln265Argfs) deletion Pathogenic rs727502867 GRCh38 Chromosome 11, 763902: 763902
4 TALDO1 NM_006755.1(TALDO1): c.793delC (p.Gln265Argfs) deletion Pathogenic rs727502867 GRCh37 Chromosome 11, 763902: 763902
5 TALDO1 NM_006755.1(TALDO1): c.516dupC duplication Pathogenic rs797045110 GRCh37 Chromosome 11, 763398: 763398
6 TALDO1 NM_006755.1(TALDO1): c.516dupC duplication Pathogenic rs797045110 GRCh38 Chromosome 11, 763398: 763398
7 TALDO1 NM_006755.1(TALDO1): c.-37T> C single nucleotide variant Uncertain significance rs886048655 GRCh38 Chromosome 11, 747445: 747445
8 TALDO1 NM_006755.1(TALDO1): c.-37T> C single nucleotide variant Uncertain significance rs886048655 GRCh37 Chromosome 11, 747445: 747445
9 TALDO1 NM_006755.1(TALDO1): c.-30C> T single nucleotide variant Uncertain significance rs373293125 GRCh38 Chromosome 11, 747452: 747452
10 TALDO1 NM_006755.1(TALDO1): c.-30C> T single nucleotide variant Uncertain significance rs373293125 GRCh37 Chromosome 11, 747452: 747452
11 TALDO1 NM_006755.1(TALDO1): c.402C> T (p.Ile134=) single nucleotide variant Uncertain significance rs886048663 GRCh38 Chromosome 11, 760194: 760194
12 TALDO1 NM_006755.1(TALDO1): c.402C> T (p.Ile134=) single nucleotide variant Uncertain significance rs886048663 GRCh37 Chromosome 11, 760194: 760194
13 TALDO1 NM_006755.1(TALDO1): c.476A> G (p.Gln159Arg) single nucleotide variant Uncertain significance rs147961544 GRCh37 Chromosome 11, 763358: 763358
14 TALDO1 NM_006755.1(TALDO1): c.476A> G (p.Gln159Arg) single nucleotide variant Uncertain significance rs147961544 GRCh38 Chromosome 11, 763358: 763358
15 TALDO1 NM_006755.1(TALDO1): c.801C> T (p.Asn267=) single nucleotide variant Uncertain significance rs142263629 GRCh37 Chromosome 11, 763910: 763910
16 TALDO1 NM_006755.1(TALDO1): c.801C> T (p.Asn267=) single nucleotide variant Uncertain significance rs142263629 GRCh38 Chromosome 11, 763910: 763910
17 TALDO1 NM_006755.1(TALDO1): c.971G> A (p.Arg324Gln) single nucleotide variant Uncertain significance rs186015859 GRCh37 Chromosome 11, 764423: 764423
18 TALDO1 NM_006755.1(TALDO1): c.971G> A (p.Arg324Gln) single nucleotide variant Uncertain significance rs186015859 GRCh38 Chromosome 11, 764423: 764423
19 TALDO1 NM_006755.1(TALDO1): c.*9T> C single nucleotide variant Likely benign rs7939103 GRCh37 Chromosome 11, 764854: 764854
20 TALDO1 NM_006755.1(TALDO1): c.*9T> C single nucleotide variant Likely benign rs7939103 GRCh38 Chromosome 11, 764854: 764854
21 TALDO1 NM_006755.1(TALDO1): c.78C> G (p.Ala26=) single nucleotide variant Uncertain significance rs886048659 GRCh37 Chromosome 11, 747559: 747559
22 TALDO1 NM_006755.1(TALDO1): c.78C> G (p.Ala26=) single nucleotide variant Uncertain significance rs886048659 GRCh38 Chromosome 11, 747559: 747559
23 TALDO1 NM_006755.1(TALDO1): c.461+14C> T single nucleotide variant Uncertain significance rs373077928 GRCh38 Chromosome 11, 760267: 760267
24 TALDO1 NM_006755.1(TALDO1): c.461+14C> T single nucleotide variant Uncertain significance rs373077928 GRCh37 Chromosome 11, 760267: 760267
25 TALDO1 NM_006755.1(TALDO1): c.952G> A (p.Asp318Asn) single nucleotide variant Uncertain significance rs866261597 GRCh37 Chromosome 11, 764404: 764404
26 TALDO1 NM_006755.1(TALDO1): c.952G> A (p.Asp318Asn) single nucleotide variant Uncertain significance rs866261597 GRCh38 Chromosome 11, 764404: 764404
27 TALDO1 NM_006755.1(TALDO1): c.982-8_982-5delGTTT deletion Uncertain significance rs773135701 GRCh37 Chromosome 11, 764805: 764808
28 TALDO1 NM_006755.1(TALDO1): c.982-8_982-5delGTTT deletion Uncertain significance rs773135701 GRCh38 Chromosome 11, 764805: 764808
29 TALDO1 NM_006755.1(TALDO1): c.*12G> A single nucleotide variant Uncertain significance rs369845141 GRCh37 Chromosome 11, 764857: 764857
30 TALDO1 NM_006755.1(TALDO1): c.*12G> A single nucleotide variant Uncertain significance rs369845141 GRCh38 Chromosome 11, 764857: 764857
31 TALDO1 NM_006755.1(TALDO1): c.-30_-19delCGCCGCCGCCGC deletion Likely benign rs71464113 GRCh38 Chromosome 11, 747452: 747463
32 TALDO1 NM_006755.1(TALDO1): c.-30_-19delCGCCGCCGCCGC deletion Likely benign rs71464113 GRCh37 Chromosome 11, 747452: 747463
33 TALDO1 NM_006755.1(TALDO1): c.181C> G (p.Leu61Val) single nucleotide variant Uncertain significance rs149640294 GRCh38 Chromosome 11, 755962: 755962
34 TALDO1 NM_006755.1(TALDO1): c.181C> G (p.Leu61Val) single nucleotide variant Uncertain significance rs149640294 GRCh37 Chromosome 11, 755962: 755962
35 TALDO1 NM_006755.1(TALDO1): c.475C> G (p.Gln159Glu) single nucleotide variant Uncertain significance rs144914498 GRCh38 Chromosome 11, 763357: 763357
36 TALDO1 NM_006755.1(TALDO1): c.475C> G (p.Gln159Glu) single nucleotide variant Uncertain significance rs144914498 GRCh37 Chromosome 11, 763357: 763357
37 TALDO1 NM_006755.1(TALDO1): c.962A> G (p.Lys321Arg) single nucleotide variant Likely benign rs11302 GRCh37 Chromosome 11, 764414: 764414
38 TALDO1 NM_006755.1(TALDO1): c.962A> G (p.Lys321Arg) single nucleotide variant Likely benign rs11302 GRCh38 Chromosome 11, 764414: 764414
39 TALDO1 NM_006755.1(TALDO1): c.*30C> T single nucleotide variant Uncertain significance rs200971004 GRCh37 Chromosome 11, 764875: 764875
40 TALDO1 NM_006755.1(TALDO1): c.*30C> T single nucleotide variant Uncertain significance rs200971004 GRCh38 Chromosome 11, 764875: 764875
41 TALDO1 NM_006755.1(TALDO1): c.-21_-19dupCGC duplication Uncertain significance rs71464113 GRCh38 Chromosome 11, 747461: 747463
42 TALDO1 NM_006755.1(TALDO1): c.-21_-19dupCGC duplication Uncertain significance rs71464113 GRCh37 Chromosome 11, 747461: 747463
43 TALDO1 NM_006755.1(TALDO1): c.48C> T (p.Asp16=) single nucleotide variant Uncertain significance rs886048658 GRCh38 Chromosome 11, 747529: 747529
44 TALDO1 NM_006755.1(TALDO1): c.48C> T (p.Asp16=) single nucleotide variant Uncertain significance rs886048658 GRCh37 Chromosome 11, 747529: 747529
45 TALDO1 NM_006755.1(TALDO1): c.68C> G (p.Thr23Ser) single nucleotide variant Uncertain significance rs144787855 GRCh37 Chromosome 11, 747549: 747549
46 TALDO1 NM_006755.1(TALDO1): c.68C> G (p.Thr23Ser) single nucleotide variant Uncertain significance rs144787855 GRCh38 Chromosome 11, 747549: 747549
47 TALDO1 NM_006755.1(TALDO1): c.197T> C (p.Ile66Thr) single nucleotide variant Uncertain significance rs146282855 GRCh38 Chromosome 11, 755978: 755978
48 TALDO1 NM_006755.1(TALDO1): c.197T> C (p.Ile66Thr) single nucleotide variant Uncertain significance rs146282855 GRCh37 Chromosome 11, 755978: 755978
49 TALDO1 NM_006755.1(TALDO1): c.293A> T (p.Lys98Met) single nucleotide variant Uncertain significance rs758756190 GRCh38 Chromosome 11, 759021: 759021
50 TALDO1 NM_006755.1(TALDO1): c.293A> T (p.Lys98Met) single nucleotide variant Uncertain significance rs758756190 GRCh37 Chromosome 11, 759021: 759021

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:

38
# 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 TALDO1 TKT
2 pentose-phosphate shunt, non-oxidative branch GO:0009052 8.96 TALDO1 TKT
3 xylulose biosynthetic process GO:0005999 8.62 TALDO1 TKT

Sources for Transaldolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....