Desmosterolosis

Description

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Clinical Features

Top most frequent phenotypes and symptoms related to Desmosterolosis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Failure to thrive
  • Micrognathia
  • Strabismus
  • Abnormal facial shape

And another 79 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Researches and researchers

Doctors, researchs, and experts related to Desmosterolosis extracted from public data.

Desmosterolosis Experts map



Current Researchs and researchers

  • HUDDINGE — Pr Ingemar BJÖRKHEM

    Investigator of research project

    • Institution/s:
      — Department of Laboratory Medicine, Karolinska Institutet - Huddinge
    • Research area/topic::

      Oxysterols in health and disease


  • HUDDINGE — Pr Ulf DICZFALUSY

    Investigator of research project

    • Institution/s:
      — Department of Laboratory Medicine, Karolinska Institutet - Huddinge
    • Research area/topic::

      Oxysterols in health and disease



Mendelian

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Desmosterolosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

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

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

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

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

MED12, NSD1, MLC1, HEPACAM, DHCR24, EZH2, AKT3, GFAP, GPC3, ASPA, NFIX, PIGA, PIGN, PIK3CA, PIK3R2, PTEN
Specificity
7 %
Genes
100 %
Desmosterolosis (sequence analysis of DHCR24 gene).

By CGC Genetics (Portugal).

DHCR24
Specificity
100 %
Genes
100 %
Desmosterolosis.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).

DHCR24
Specificity
100 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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