Aspartylglucosaminuria

Description

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Clinical Features

Top most frequent phenotypes and symptoms related to Aspartylglucosaminuria

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape
  • Delayed speech and language development
  • Hepatomegaly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Behavioral abnormality

And another 33 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Aspartylglucosaminuria Is also known as aspartylglucosaminidase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Aspartylglucosaminuria extracted from public data.

Aspartylglucosaminuria Experts map



Current Researchs and researchers

  • LYON — Dr Marie-Thérèse VANIER

    Coordinator of research network

    • Institution/s:
      — INSERM U 820, Faculté de médecine - RTH Laënnec
    • Research area/topic::

      Réseau sur les maladies de surcharge lysosomales



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Aspartylglucosaminuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AGA Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

AGA
Specificity
100 %
Genes
100 %
AGA Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

AGA
Specificity
100 %
Genes
100 %
AGA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

AGA
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Aspartylglycosaminuria.

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

AGA
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %

We have 41 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIA; USH2A RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY LENNOX-GASTAUT SYNDROME IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more