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Disease Profile
Transaldolase deficiency
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
E74.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases; Metabolic disorders
Summary
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.
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.
The disorder is caused by mutations in the transaldolase gene (TALDO1, 11p15.5-p15.4).
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormal circulating glutamine concentration | 0010903 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
|
Enlarged liver and spleen
|
0001433 | |
| Increased serum bile acid concentration | 0012202 | |
|
Low platelet count
|
0001873 | |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the clitoris |
Abnormality of the clit
|
0000056 |
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Hydrops fetalis | 0001789 | |
| Premature skin wrinkling | 0100678 | |
| Telangiectasia | 0001009 | |
| 5%-29% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Biventricular hypertrophy | 0200128 | |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
| Functional respiratory abnormality | 0002795 | |
| Global |
0001263 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Asthma | 0002099 | |
| 0000007 | ||
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| Decreased liver function |
Liver dysfunction
|
0001410 |
| Deep philtrum | 0002002 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Hepatic fibrosis | 0001395 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Micronodular cirrhosis | 0001413 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Patent ductus arteriosus | 0001643 | |
| Patent foramen ovale | 0001655 | |
| Poor suck |
Poor sucking
|
0002033 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short philtrum | 0000322 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Transaldolase deficiency. Click on the link to view a sample search on this topic.