Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis; Mccpd
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).
Genes related to Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis; Mccpd
- MSMO1
Clinical Features
Top most frequent phenotypes and symptoms related to Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis; Mccpd
- Global developmental delay
- Short stature
- Pica
- Microcephaly
- Failure to thrive
- Cataract
- Flexion contracture
- Intellectual disability, mild
- Delayed skeletal maturation
- Arthralgia
Incidence and onset information
— Not enough data available about incidence and published cases.
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Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis; Mccpd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Microcephaly MSMO1 related.
By Centogene AG - the Rare Disease Company in Germany.
MSMO1
Specificity
100 %
Genes
100 % |
Microcephaly panel.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
Microcephaly MSMO1 related.
By Centogene AG - the Rare Disease Company in Germany.
MSMO1
Specificity
100 %
Genes
100 % |
MSMO1-Related Psoriasiform Dermatitis: MSMO1 Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MSMO1
Specificity
100 %
Genes
100 % |
Microcephaly NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)
View the complete list with 15 more genes
Specificity
3 %
Genes
100 % |
MSMO1.
By Fulgent Genetics Fulgent Genetics in United States.
MSMO1
Specificity
100 %
Genes
100 % |
Alternate names
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis; Mccpd Is also known as sc4mol deficiency;smo deficiency; sterol-c4-methyl oxidase deficiency.
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