MSMO1 gene related symptoms and diseases

All the information presented here about the MSMO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MSMO1 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Delayed puberty Very Common - Between 80% and 100% cases
Hypocholesterolemia Very Common - Between 80% and 100% cases
Immune dysregulation Very Common - Between 80% and 100% cases
Blepharitis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MSMO1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Erythroderma
  • Psoriasiform dermatitis
  • Inflammatory abnormality of the skin
  • Ichthyosis
  • Congenital cataract
  • Short stature
  • Arthralgia
  • Delayed skeletal maturation

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MSMO1 gene

Here you will find a list of rare diseases related to the MSMO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


Alternate names

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency, sterol-c4-methyl oxidase deficiency, sc4mol deficiency

Description

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

Most common symptoms of MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for MSMO1 gene

Microcephaly MSMO1 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MSMO1 gene.

More info about this panel

Microcephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2

More info about this panel

Microcephaly MSMO1 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MSMO1 gene.

More info about this panel

MSMO1-Related Psoriasiform Dermatitis: MSMO1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MSMO1 gene.

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

MSMO1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MSMO1 gene.

More info about this panel


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