Transaldolase Deficiency

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Transaldolase Deficiency

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears
  • Anemia
  • Depressed nasal bridge
  • Hepatomegaly
  • Intrauterine growth retardation
  • Ventricular septal defect

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Transaldolase Deficiency Is also known as taldo deficiency, eyaid syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Transaldolase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Transaldolase defeciency (sequence analysis of TALDO1 gene).

By CGC Genetics (Portugal).

TALDO1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Transaldolase deficiency (TALDO).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

TALDO1
Specificity
100 %
Genes
100 %
Transaldolase defeciency.

By Centogene AG - the Rare Disease Company (Germany).

TALDO1
Specificity
100 %
Genes
100 %
Transaldolase defeciency.

By Centogene AG - the Rare Disease Company (Germany).

TALDO1
Specificity
100 %
Genes
100 %
Cutis laxa gene panel.

By Connective Tissue Laboratory Ghent University Hospital (Belgium).

TALDO1, ATP6V0A2, COG7, GORAB, EFEMP2, ELN, FBLN5, LTBP4, ATP7A, PYCR1, ALDH18A1
Specificity
10 %
Genes
100 %
TALDO1.

By Fulgent Genetics Fulgent Genetics (United States).

TALDO1
Specificity
100 %
Genes
100 %

We have 2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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