AASS gene related symptoms and diseases

All the information presented here about the AASS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AASS gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cystinuria Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Hyperlysinuria Very Common - Between 80% and 100% cases
Hyperlysinemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AASS gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperactivity
  • Delayed speech and language development
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Normochromic anemia
  • Episodic vomiting
  • Asthenia
  • Poor speech
  • Short attention span

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AASS gene

Here you will find a list of rare diseases related to the AASS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SACCHAROPINURIA


Alternate names

SACCHAROPINURIA Is also known as saccharopine dehydrogenase deficiency, hyperlysinemia, type ii, alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type ii

Description

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

Most common symptoms of SACCHAROPINURIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Delayed speech and language development


More info about SACCHAROPINURIA

SOURCES: OMIM ORPHANET MESH

HYPERLYSINEMIA


Alternate names

HYPERLYSINEMIA Is also known as hyperlysinemia type i, lysine alpha-ketoglutarate reductase deficiency, lysine:alpha-ketoglutarate reductase deficiency, l-lysine:nad-oxido-reductase deficiency, alpha-aminoadipic semialdehyde synthase deficiency, lysine intolerance

Description

Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

Most common symptoms of HYPERLYSINEMIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


More info about HYPERLYSINEMIA

SOURCES: OMIM ORPHANET


Potential gene panels for AASS gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Hyperlysinemia type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AASS gene.

More info about this panel

Saccharopinuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AASS gene.

More info about this panel

AASS Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the AASS gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

AASS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AASS gene.

More info about this panel

Ectopia Lentis Panel Panel

Finland.

By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR

More info about this panel


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