Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 (MLASA1)

Alias:
Mitochondrial Myopathy and Sideroblastic Anemia
Mlasa1
Myopathy, Lactic Acidosis and Sideroblastic Anemia
Mlasa
Myopathy with Lactic Acidosis and Sideroblastic Anemia 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1, also known as mitochondrial myopathy and sideroblastic anemia, is related to myopathy, lactic acidosis, and sideroblastic anemia 3 and sideroblastic anemia. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 is PUS1 (Pseudouridine Synthase 1), and among its related pathways/superpathways are tRNA processing and Pyrimidine metabolism and related diseases. Affiliated tissues include bone marrow and skeletal muscle, and related phenotypes are high palate and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
10
39
11

Medical Symptom

#
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

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
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