Transaldolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TALDO
Number of Symptoms 58
OrphanetNr: 101028
OMIM Id: 606003
ICD-10: E74.8
UMLs: C1291329
MeSH:
MedDRA:
Snomed: 124252008

Prevalence, inheritance and age of onset:

Prevalence: <= 0.1 of 100 000
Inheritance: Monogenic
Autosomal recessive
23846909 [IBIS]
Age of onset: Neonatal
Infancy
19299175 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of pentose phosphate metabolism
 -Rare genetic disease

Comment:

Transaldolase deficiency is caused by mutations in the gene TALDO1, a key enzyme of the non-oxidative pentose phosphate pathway. It is a pleiotropic disorder that should be considered when investigating a child with unexplained hepatosplenomegaly or hepatic fibrosis (PMID:23315216).

Symptom Information: Sort by abundance 

1
 (HPO:0002033) Poor suck 23315216 IBIS 37 / 7739
2
 (HPO:0001892) Abnormal bleeding 23315216 IBIS 85 / 7739
3
 (HPO:0000421) Epistaxis 23315216 IBIS 85 / 7739
4
 (HPO:0002249) Melena 23315216 IBIS 11 / 7739
5
 (HPO:0002093) Respiratory insufficiency Occasional [IBIS] 8% (n=12) 23315216 IBIS 410 / 7739
6
 (HPO:0011950) Bronchiolitis 23315216 IBIS 8 / 7739
7
 (HPO:0001194) Abnormalities of placenta or umbilical cord 24497183 IBIS 3 / 7739
8
 (HPO:0001531) Failure to thrive in infancy 24497183 IBIS 26 / 7739
9
 (HPO:0001876) Pancytopenia 23315216 IBIS 89 / 7739
10
 (HPO:0001631) Atria septal defect 23315216 IBIS 274 / 7739
11
 (HPO:0001655) Patent foramen ovale 23315216 IBIS 31 / 7739
12
 (HPO:0001711) Abnormality of the left ventricle 23315216 IBIS 22 / 7739
13
 (HPO:0001638) Cardiomyopathy 25388407 IBIS 192 / 7739
14
 (HPO:0001643) Patent ductus arteriosus 23315216 IBIS 228 / 7739
15
 (HPO:0001928) Abnormality of coagulation 23315216 IBIS 44 / 7739
16
 (HPO:0001903) Anemia Frequent [IBIS] 64% (n=33) 23315216 IBIS 289 / 7739
17
 (HPO:0000969) Edema Occasional [IBIS] 8% (n=12) 23315216 IBIS 117 / 7739
18
 (HPO:0001875) Neutropenia 23315216 IBIS 83 / 7739
19
 (HPO:0001263) Global developmental delay Occasional [IBIS] 2% (n=33) 23315216 IBIS 853 / 7739
20
 (HPO:0001511) Intrauterine growth retardation 26238251 IBIS 358 / 7739
21
 (HPO:0001561) Polyhydramnios 23315216 IBIS 191 / 7739
22
 (HPO:0000998) Hypertrichosis 26238251 IBIS 52 / 7739
23
 (HPO:0002209) Sparse scalp hair 23315216 IBIS 59 / 7739
24
 (HPO:0001394) Cirrhosis 18331807 IBIS 102 / 7739
25
 (HPO:0001410) Decreased liver function Frequent [IBIS] 58% (n=12) 23315216 IBIS 59 / 7739
26
 (HPO:0001399) Hepatic failure Frequent [IBIS] 55% (n=33) 23315216 IBIS 80 / 7739
27
 (HPO:0001395) Hepatic fibrosis 23315216 IBIS 67 / 7739
28
 (HPO:0002240) Hepatomegaly 23315216 IBIS 467 / 7739
29
 (HPO:0001433) Hepatosplenomegaly Frequent [IBIS] 67% (n=33) 23315216 IBIS 78 / 7739
30
 (HPO:0001744) Splenomegaly 23315216 IBIS 337 / 7739
31
 (HPO:0008665) Clitoral hypertrophy 10 / 7739
32
 (HPO:0001999) Abnormal facial shape Very frequent [IBIS] 92% (n=12) 23315216 IBIS 169 / 7739
33
 (HPO:0000325) Triangular face 23315216 IBIS 91 / 7739
34
 (HPO:0000996) Facial capillary hemangioma 23315216 IBIS 4 / 7739
35
 (HPO:0000288) Abnormality of the philtrum 23315216 IBIS 54 / 7739
36
 (HPO:0002002) Deep philtrum 23315216 IBIS 42 / 7739
37
 (HPO:0000322) Short philtrum 23315216 IBIS 130 / 7739
38
 (HPO:0000233) Thin vermilion border 23315216 IBIS 124 / 7739
39
 (HPO:0000154) Wide mouth 23315216 IBIS 137 / 7739
40
 (HPO:0005280) Depressed nasal bridge 23315216 IBIS 381 / 7739
41
 (HPO:0100876) Infra-orbital crease 23315216 IBIS 4 / 7739
42
 (HPO:0000369) Low-set ears 23315216 IBIS 372 / 7739
43
 (HPO:0000973) Cutis laxa 23315216 IBIS 43 / 7739
44
 (HPO:0007392) Excessive wrinkled skin Very frequent [IBIS] 100% (n=12) 23315216 IBIS 2 / 7739
45
 (HPO:0001076) Glabellar hemangioma 23315216 IBIS 4 / 7739
46
 (HPO:0009762) Facial wrinkling 23315216 IBIS 3 / 7739
47
 (HPO:0001582) Redundant skin 23315216 IBIS 51 / 7739
48
 (HPO:0000963) Thin skin 24497183 IBIS 96 / 7739
49
 (HPO:0100585) Telangiectasia of the skin 24497183 IBIS 66 / 7739
50
 (HPO:0000077) Abnormality of the kidney Occasional [IBIS] 17% (n=12) 23315216 IBIS 73 / 7739
51
 (HPO:0000790) Hematuria 23315216 IBIS 106 / 7739
52
 (HPO:0000093) Proteinuria 25388407 IBIS 169 / 7739
53
 (HPO:0003540) Impaired platelet aggregation Occasional [IBIS] 15% (n=33) 23315216 IBIS 17 / 7739
54
 (HPO:0001873) Thrombocytopenia Frequent [IBIS] 64% (n=33) 23315216 IBIS 224 / 7739
55
 (HPO:0001510) Growth delay 23315216 IBIS 295 / 7739
56
 (HPO:0001789) Hydrops fetalis 25388407 IBIS 63 / 7739
57
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [IBIS] 100% (n=12) 23315216 IBIS 355 / 7739
58
 (HPO:0030148) Heart murmur 23315216 IBIS 29 / 7739

Associated genes:

TALDO1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verhoeven et al. (2001) described deficiency of transaldolase in the first child of healthy, consanguineous Turkish parents. Soon after birth, the patient had undergone surgical correction of aortic coarctation. Within several months, she developed hepatosplenomegaly. Elevated concentrations of ...
Molecular genetics OMIM By sequence analysis of the TALDO1 gene in a patient with transaldolase deficiency, Verhoeven et al. (2001) identified a homozygous 3-bp deletion, resulting in the absence of serine at position 171 of the transaldolase protein (602063.0001).