Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis (MCCPD)

Alias:
Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome
Sc4mol Deficiency
Mccpd
Sterol-C4-Methyl Oxidase Deficiency
Smo Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis, also known as microcephaly-congenital cataract-psoriasiform dermatitis syndrome, is related to microcephaly and cataract. An important gene associated with Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis is MSMO1 (Methylsterol Monooxygenase 1). Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
5
2

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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