2-aminoadipic 2-oxoadipic Aciduria

Description

2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

Clinical Features

Top most frequent phenotypes and symptoms related to 2-aminoadipic 2-oxoadipic Aciduria

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Muscular hypotonia
  • Delayed speech and language development
  • Motor delay
  • Intellectual disability, mild

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

2-aminoadipic 2-oxoadipic Aciduria Is also known as alpha-aminoadipic aciduria.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

2-aminoadipic 2-oxoadipic Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics (Portugal).

SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics (Portugal).

SBF1, YARS, PRX, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, C12orf65, MED25 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, YARS, PRX, GDAP1, TRIM2, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, CTDP1, LRSAM1, MED25, PLEKHG5 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, PRX, GDAP1, TRIM2, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SBF1, SCN9A, SLC12A6, ATL1, SPTLC1, SPTLC2, TFG, TTR, YARS, PRX, SLC5A7, BSCL2, GDAP1, TRIM2, CCT5, LITAF, FIG4, MFN2, BICD2, TRPV4 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %

We have 15 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIEBALD TRAIT; PBT OROFACIODIGITAL SYNDROME XIV; OFD14 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ADAMS-OLIVER SYNDROME 1; AOS1 SMITH-KINGSMORE SYNDROME; SKS NASOPHARYNGEAL CARCINOMA

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more