Iminoglycinuria

Description

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Clinical Features

Top most frequent phenotypes and symptoms related to Iminoglycinuria

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness
  • Encephalopathy
  • Abnormality of the eye
  • Severe global developmental delay
  • Aciduria
  • Nephrolithiasis

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available IMINOGLYCINURIA have a estimated birth prevalence of 6.67 per 100k worldwide.
No data available about the known clinical features onset.

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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Iminoglycinuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
25 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
Hartnup disorder (sequence analysis of SLC6A19 gene).

By CGC Genetics (Portugal).

SLC6A19
Specificity
100 %
Genes
25 %
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
75 %
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
25 %
Ataxia.

By MGZ Medical Genetics Center (Germany).

SACS, SLC1A3, SLC25A15, SLC2A1, SLC2A10, CACNA1A, CACNA1C, CACNB4, APTX, SLC52A3, COQ8A, TACO1, DARS2, TTC19, C12orf65, DBT, SLC6A19, SLC52A2, PRRT2, SETX , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
25 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center (Germany).

SLC1A3, SLC22A5, SLC25A15, SLC2A1, CACNA1A, CACNA1C, CACNB4, ABHD5, CPT2, DARS2, DBT, SLC6A19, PRRT2, PNPLA2, ETFA, ETFB, ETFDH, IVD, KCNA1, KCNA4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Hartnup disorder (SLC6A19).

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

SLC6A19
Specificity
100 %
Genes
25 %

We have 14 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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