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).

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
And another 9 symptoms. If you need more information about this disease we can help you.
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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
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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