Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency

Description

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Jaundice
  • Hypoglycemia
  • Abnormality of the nervous system
  • Abnormality of the liver
  • Small for gestational age

And another 19 symptoms. If you need more information about this disease we can help you.

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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

Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia, niccd.

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.


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Neonatal Intrahepatic Cholestasis Due To Citrin 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 %
SLC25A13 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
Specificity
100 %
Genes
100 %
SLC25A13 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A13
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 %
Cholestasis.

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

SLC25A13, ATP8B1, AKR1D1, ABCB4, JAG1
Specificity
20 %
Genes
100 %

We have 68 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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