Meckel Syndrome, Type 3 (MKS3)
Alias:
Meckel Syndrome 3
Meckel-Gruber Syndrome, Type 3
Mks3
Meckel Syndrome Type 3
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Meckel Syndrome, Type 3, also known as meckel syndrome 3, is related to meckel syndrome, type 2 and meckel syndrome, type 4. An important gene associated with Meckel Syndrome, Type 3 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and cerebellum, and related phenotypes are hydrocephalus and cleft palate
Related ID:
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
7
29
12
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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
No Data Found!
Wechat
Comparison
Al agent
Sources
Back to top