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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.

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US Estimated

Europe Estimated

Age of onset

Infancy

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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.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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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.
orphanet

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.

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
Anemia
Low number of red blood cells or hemoglobin
0001903
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Increased serum bile acid concentration
0012202
Thrombocytopenia
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 developmental delay
0001263
Percent of people who have these symptoms is not available through HPO
Asthma
0002099
Autosomal recessive inheritance
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.