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.
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
Search interest in MSMO1
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 Germany.
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 Germany.
Microcephaly MSMO1 related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MSMO1 gene.
More info about this panel Germany.
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 United States.
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 United States.
MSMO1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MSMO1 gene.
More info about this panel United States.
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