Lathosterolosis

Description

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Lathosterolosis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia

And another 71 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Lathosterolosis Is also known as sc5d deficiency, sterol c5-desaturase deficiency.

Researches and researchers

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

Lathosterolosis 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


Lathosterolosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lathosterolosis.

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

SC5D
Specificity
100 %
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 %
SC5D.

By Fulgent Genetics Fulgent Genetics (United States).

SC5D
Specificity
100 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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