DiseaseID 15550
Leigh综合征，法裔加拿大型
disease
SNOMEDCT_US_2016_09_01:A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 5Symptom: 3Target: 17Links: 32
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15550
- Core Entity Id
- 73499
- Source Entity Count
- 1
- Preferred Name
- Leigh Syndrome , French Canadian Type
- Name Cn
- Leigh综合征，法裔加拿大型
- Name Pinyin
- Leigh Zong He Zheng ， Fa Yi Jia Na Da Xing
- Name En
- Leigh Syndrome , French Canadian Type
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Leigh Syndrome , French Canadian Type
Role
preferred
Name
Leigh Syndrome, French Canadian Type
Role
preferred
Name
COX DEFICIENCY, FRENCH CANADIAN TYPE
Role
alias
Name
COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE
Role
alias
Name
CYTOCHROME C OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE
Role
alias
Name
French Canadian Leigh Disease
Role
alias
Name
LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
Role
alias
Name
LSFC
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017412
Omim
220111
Umls
C1857355
Sym Map
SMDE00995
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1857355
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Leigh Syndrome, French Canadian Type
Tcmbank Disease
24064
Itcmdb Generated
ITX-DISEASE-F1A43DADC1AE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Leigh Syndrome, French Canadian Type Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Leigh Syndrome, French Canadian Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome