Multiple Carboxylase Deficiency (MCD)

Alias:
Mcd
Holocarboxylase Synthetase Deficiency
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Carboxylase Deficiency, also known as mcd, is related to holocarboxylase synthetase deficiency and metabolic acidosis, and has symptoms including exanthema, lethargy and seizures. An important gene associated with Multiple Carboxylase Deficiency is HLCS (Holocarboxylase Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include skin and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and renal/urinary system
Related ID:
MESH:D009100

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
20
89
--

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
Tutorials
Back to top