Adenylosuccinate Lyase Deficiency

Description

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

Clinical Features

Top most frequent phenotypes and symptoms related to Adenylosuccinate Lyase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Low-set ears

And another 43 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

Adenylosuccinate Lyase Deficiency Is also known as adenylosuccinate lyase deficiency, adenylosuccinase deficiency, adsl deficiency.

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

Adenylosuccinate Lyase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ADSL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ADSL
Specificity
100 %
Genes
100 %
ADSL Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

ADSL
Specificity
100 %
Genes
100 %
ADSL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ADSL
Specificity
100 %
Genes
100 %
ADSL Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ADSL
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %

We have 57 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE HEMATURIA, BENIGN FAMILIAL; BFH DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 BRODY MYOPATHY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more