Chanarin-dorfman Syndrome; Cds

Clinical Features

Top most frequent phenotypes and symptoms related to Chanarin-dorfman Syndrome; Cds

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract

And another 21 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

Chanarin-dorfman Syndrome; Cds Is also known as neutral lipid storage disease with ichthyosis, dcs, nlsdi, triglyceride storage disease with impaired long-chain fatty acid oxidation, dorfman-chanarin syndrome, chanarin-dorfman disease, ichthyosiform erythroderma with leukocyte vacuolation, ichthyotic neutral .

Researches and researchers

Doctors, researchs, and experts related to Chanarin-dorfman Syndrome; Cds extracted from public data.

Chanarin-dorfman Syndrome; Cds Experts map



Current Researchs and researchers

  • ROMA — Pr Marcello ARCA

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Dipartimento di Medicine Interne e Specialità Mediche (DMSM), Policlinico Umberto I
    • Research area/topic::

      Clinical, molecular and pathogenetic studies of Neutral Lipid Storage Disease (NLSD)



Mendelian

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Chanarin-dorfman Syndrome; Cds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
Hearing Loss Panel.

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

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
ABHD5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ABHD5
Specificity
100 %
Genes
100 %
ABHD5 Gene Sequencing.

By GeneDx (United States).

ABHD5
Specificity
100 %
Genes
100 %
Chanarin-Dorfman syndrome (sequence analysis of ABHD5 gene).

By CGC Genetics (Portugal).

ABHD5
Specificity
100 %
Genes
100 %
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC27A4, ST14, TGM1, ALOXE3, ABCA12, CLDN1, POMP, PNPLA1, ABHD5, LIPN, CERS3, CYP4F22, NIPAL4, ALOX12B, AP1S1, KRT1, KRT10, KRT2, KRT9
Specificity
6 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, SLC22A5, SUCLA2, TAZ, TWNK, TK2, LPIN1, SLC25A20, RBCK1, COQ8A, RRM2B, PDSS1, FKRP, ABHD5, ACAD9, PDSS2, CPT1A, CPT2, SIL1, FLAD1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %

We have 22 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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