Cerebrocostomandibular Syndrome (CCMS)

Alias:
Cerebro-Costo-Mandibular Syndrome
Rib Gap Defects with Micrognathia
Ccms
Ccm Syndrome
Cerebro-Cosot-Mandibular Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebrocostomandibular Syndrome, also known as cerebro-costo-mandibular syndrome, is related to cerebral cavernous malformations 2 and cerebral cavernous malformations. An important gene associated with Cerebrocostomandibular Syndrome is SNRPB (Small Nuclear Ribonucleoprotein Polypeptides B And B1), and among its related pathways/superpathways are mRNA Splicing - Minor Pathway and p38 MAPK signaling pathway (Pathway Interaction Database). Affiliated tissues include bone and kidney, and related phenotypes are cleft palate and micrognathia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
<1/1000000
27
170
23

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
No Data Found!
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