Joubert Syndrome With Hepatic Defect

Description

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome With Hepatic Defect

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay
  • Hypertelorism
  • Nystagmus
  • Strabismus

And another 77 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Joubert Syndrome With Hepatic Defect Is also known as coach syndrome, cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, js-h, joubert syndrome with congenital hepatic fibro.

Researches and researchers

Doctors, researchs, and experts related to Joubert Syndrome With Hepatic Defect extracted from public data.

Joubert Syndrome With Hepatic Defect Experts map



Current Researchs and researchers

  • MADISON — Erica DAVIS

    Investigator of research project

    • Institution/s:
      — University Of Wisconsin-madison
    • Research area/topic::

      Modifiers of retinal phenotypes in ciliopathies



Mendelian

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Joubert Syndrome With Hepatic Defect 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
75 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
34 %
Genes
50 %
TMEM67 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

TMEM67
Specificity
100 %
Genes
25 %
Bardet-Biedl Syndrome Panel.

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

SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
50 %
Ciliopathies.

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

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
75 %
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
75 %
Joubert Syndrome.

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

CEP41, TMEM237, INPP5E, AHI1, B9D1, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, KIF7, MKS1 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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 BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 DEMENTIA, LEWY BODY; DLB DIGEORGE SYNDROME; DGS IDIOPATHIC ACHALASIA DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

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