Smith-Mccort Dysplasia 1 (SMC1)

Alias:
Smith-Mccort Dysplasia
Smc1
Smc
Dysplasia, Smith-Mccort, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Smith-Mccort Dysplasia 1, also known as smith-mccort dysplasia, is related to dyggve-melchior-clausen disease and smith-mccort dysplasia 2, and has symptoms including waddling gait An important gene associated with Smith-Mccort Dysplasia 1 is DYM (Dymeclin), and among its related pathways/superpathways are Metabolism of proteins and Golgi-to-ER retrograde transport. Affiliated tissues include spinal cord and bone, and related phenotypes are kyphosis and short neck
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
21
94
7

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
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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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