DiseaseID 927
线粒体肌病伴铁粒幼细胞性贫血
disease
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters
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Disease: 1Formula: 20Herb: 3Symptom: 12Target: 24Links: 59
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 927
- Core Entity Id
- 1048
- Source Entity Count
- 1
- Preferred Name
- Mitochondrial Myopathy And Sideroblastic Anemia
- Name Cn
- 线粒体肌病伴铁粒幼细胞性贫血
- Name Pinyin
- Xian Li Ti Ji Bing Ban Tie Li You Xi Bao Xing Pin Xue
- Name En
- Mitochondrial Myopathy and Sideroblastic Anemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mitochondrial Myopathy And Sideroblastic Anemia
Role
preferred
Name
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Role
preferred
Name
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Role
preferred
Name
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Role
preferred
Name
Isolated Complex I Deficiency
Role
preferred
Name
Merrf
Role
preferred
Name
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Role
preferred
Name
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Role
preferred
Name
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Role
preferred
Name
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3
Role
preferred
Name
MLASA
Role
alias
Name
MLASA1
Role
alias
Name
MLASA2
Role
alias
Name
MSA
Role
alias
Name
Myopathy With Lactic Acidosis And Sideroblastic Anemia
Role
alias
Name
Myopathy, Lactic Acidosis And Sideroblastic Anemia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015649HBDIS020684HBDIS027352HBDIS029874
Omim
500011600462613561
Umls
C0162671C0162672C1835845C1838103C3150802C3279699
Icd10
G71.3
Med Dra
1005387210069825
Sym Map
SMDE00701SMDE00771SMDE01460SMDE01670SMDE02838SMDE03234SMDE03524SMDE04004SMDE04986
Do Class
DOID:7
Dis Ge Net
C1838103C3150802C4225415C4551958
Orphanet
119419332598260955055191130
Umls Sty
T047
Me Sh Class
C05C10C14C16C18
Etcm Disease
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like EpisodesMyopathy, Lactic Acidosis, and Sideroblastic Anemia 1Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2
Tcmbank Disease
13269205602221
Itcmdb Generated
ITX-DISEASE-228B1E9394D9ITX-DISEASE-59F1290CF15BITX-DISEASE-70B7705FDC53ITX-DISEASE-AA5757493A2E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
01
Page Title
Disease Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Details pageDisease Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 Details pageDisease Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Link Disease Id
701.0
Do Disease Class
disease of anatomical entity
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Name
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Muscle diseases;Neuronal diseases
Disease Name
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Muscle diseases;Neuronal diseases
Disease Definition
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sistersIsolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been dMitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of NCI2016_02D:A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.|MSH2017_2016_08_12:A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome