Silver-Russell Syndrome Due to a Point Mutation

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Silver-Russell Syndrome Due to a Point Mutation is related to mulchandani-bhoj-conlin syndrome and salivary gland adenoma, pleomorphic. An important gene associated with Silver-Russell Syndrome Due to a Point Mutation is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Endochondral ossification with skeletal dysplasias. Affiliated tissues include eye and placenta, and related phenotypes are feeding difficulties in infancy and prominent forehead
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
4
43
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Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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