Alagille Syndrome 1; Algs1

Description

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Alagille Syndrome 1; Algs1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Micrognathia
  • Strabismus

And another 128 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Alagille Syndrome 1; Algs1 have a estimated birth prevalence of 0.8 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Alagille Syndrome 1; Algs1 Is also known as algs, alagille-watson syndrome, alagille syndrome, hepatic ductular hypoplasia, syndromatic, arteriohepatic dysplasia, aws, cholestasis with peripheral pulmonary stenosis, ahd.

Researches and researchers

Doctors, researchs, and experts related to Alagille Syndrome 1; Algs1 extracted from public data.

Alagille Syndrome 1; Algs1 Experts map



Current Researchs and researchers

  • CAMBRIDGE — Dr Fotios SAMPAZIOTIS

    Investigator of research project

    • Institution/s:
      — University of Cambridge
    • Research area/topic::

      In vitro modelling of biliary development and diseases



Mendelian

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Alagille Syndrome 1; Algs1 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 %
JAG1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

JAG1
Specificity
100 %
Genes
100 %
JAG1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

JAG1
Specificity
100 %
Genes
100 %
JAG1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

JAG1
Specificity
100 %
Genes
100 %
JAG1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

JAG1
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
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 %
JAG1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

JAG1
Specificity
100 %
Genes
100 %

We have 113 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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