Sjogren-larsson Syndrome; Sls

Description

Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Sjogren-larsson Syndrome; Sls

  • Intellectual disability
  • Seizures
  • Short stature
  • Spasticity
  • Myopia
  • Hyperkeratosis
  • Photophobia
  • Abnormality of the nervous system
  • Erythema
  • Astigmatism

And another 22 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Sjogren-larsson Syndrome; Sls Is also known as ichthyosis, spastic neurologic disorder, and oligophrenia, faldh deficiency, fatty alcohol:nad+ oxidoreductase deficiency, fatty aldehyde dehydrogenase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sjogren-larsson Syndrome; Sls 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 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
ALDH3A2.

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

ALDH3A2
Specificity
100 %
Genes
100 %
ALDH3A2 Gene Sequencing.

By GeneDx (United States).

ALDH3A2
Specificity
100 %
Genes
100 %
ALDH3A2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ALDH3A2
Specificity
100 %
Genes
100 %
ALDH3A2. Detection of the mutation c.1297_1298delGA by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ALDH3A2
Specificity
100 %
Genes
100 %
Sjogren-Larsson syndrome (sequence analysis of ALDH3A2 gene).

By CGC Genetics (Portugal).

ALDH3A2
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

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 RAHMAN SYNDROME; RMNS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more