Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation

Alias:
Hypertrophic Cardiomyopathy with Renal Anomalies Due to Mitochondrial Dna Mutation
Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mtdna Mutation
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation, is also known as hypertrophic cardiomyopathy with renal anomalies due to mitochondrial dna mutation. An important gene associated with Hypertrophic Cardiomyopathy with Kidney Anomalies Due to Mitochondrial Dna Mutation is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1). Affiliated tissues include kidney and brain, and related phenotypes are failure to thrive and respiratory insufficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
<1/1000000
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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