Citrullinemia, Classic

Clinical Features

Top most frequent phenotypes and symptoms related to Citrullinemia, Classic

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Spasticity
  • Feeding difficulties
  • Motor delay
  • Hepatomegaly

And another 42 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

Citrullinemia, Classic Is also known as ass deficiency, argininosuccinate synthetase deficiency, citrullinemia, type i, ctln1, citrullinuria.

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.

Citrullinemia, Classic 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 %
ASS1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ASS1
Specificity
100 %
Genes
100 %
ASS1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

ASS1
Specificity
100 %
Genes
100 %
ASS1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ASS1
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 %
Citrullinemia, Type 1.

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

ASS1
Specificity
100 %
Genes
100 %
Urea Cycle Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

NAGS, ARG1, ASL, ASS1, OTC
Specificity
20 %
Genes
100 %

You can get up to 69 more panels with our dedicated tool

Learn more

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 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 MISMATCH REPAIR CANCER SYNDROME; MMRCS FG SYNDROME 2; FGS2 CAMPOMELIC DYSPLASIA EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM ARGININOSUCCINIC ACIDURIA