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: NCBIGENE,OMIM,ORPHANET,HGNC.

Top 5 symptoms associated to AASS gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Hyperlysinuria Very Common - Between 80% and 100% cases
Spastic tetraparesis Uncommon - Between 30% and 50% cases
Abnormality of the genitourinary system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with AASS gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Optic nerve hypoplasia Ectopia lentis Short attention span Cystinuria Episodic vomiting Asthenia Normochromic anemia Oroticaciduria

And 24 more phenotypes.

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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.


HYPERLYSINEMIA, TYPE I

Alternate names

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

Description

Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013).The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (OMIM ), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1985).

Most common symptoms of HYPERLYSINEMIA, TYPE I

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


More info about HYPERLYSINEMIA, TYPE I

SOURCES: OMIM UMLS ORPHANET

SACCHAROPINURIA

Alternate names

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

Description

Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (OMIM ) both result from deficiency of the bifunctional enzyme AASS (OMIM ) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1985).

Most common symptoms of SACCHAROPINURIA

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • EEG abnormality
  • Spastic diplegia


More info about SACCHAROPINURIA

SOURCES: ORPHANET MONDO MESH GARD SCTID OMIM

Potential gene panels for AASS gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

Comprehensive mitochondrial disorders panel Panel

By Centogene AG - the Rare Disease Company in Germany. Comprehensive mitochondrial disorders panel that also includes the following genes: MCCC1 MCCC2 ACAD9 ACADM ACADS ACADVL ACAT1 PC UQCRB HLCS

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

Hyperlysinemia type 1 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AASS gene.

More info about this panel

Saccharopinuria Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AASS gene.

More info about this panel

AASS Panel

By Division Human Genetics Medical University Innsbruck in Austria.

This panel specifically test the AASS gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: HTT UBE3A MUTYH TP53 MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL

More info about this panel

AASS Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the AASS gene.

More info about this panel

Ectopia Lentis Panel Panel

By Blueprint Genetics in Finland. Ectopia Lentis Panel that also includes the following genes: AASS FBN1 BCOR SUOX CBS PORCN LTBP2 VSX2 COL18A1 ADAMTSL4

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