DiseaseID 5033
Ⅰ型乳酸性酸中毒共济失调
disease
NCI2016_02D:A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms inc
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5033
- Core Entity Id
- 61472
- Source Entity Count
- 1
- Preferred Name
- Ataxia With Lactic Acidosis, Type I
- Name Cn
- Ⅰ型乳酸性酸中毒共济失调
- Name Pinyin
- Ⅰ Xing Ru Suan Xing Suan Zhong Du Gong Ji Shi Tiao
- Name En
- Ataxia With Lactic Acidosis, Type I
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia.|MSH2017_2016_08_12:An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.|JABL99:An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually associated with slow physical and mental development, microcephaly, dysgenesis and atrophic changes in the brain, cerebellar ataxia, seizures, and spasticity. Pyruvate dehydrogenase phosphatase (EC 3.1.3.43) deficiency has been found to occur in Leigh syndrome.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ataxia With Lactic Acidosis, Type I
Role
preferred
Name
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Role
preferred
Name
Pyruvate Dehydrogenase Complex Deficiency Disease
Role
preferred
Name
Pyruvate Dehydrogenase E1 Alpha Deficiency
Role
preferred
Name
Pyruvate Dehydrogenase E1-Beta Deficiency
Role
preferred
Name
Pyruvate Dehydrogenase E2 Deficiency
Role
preferred
Name
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Role
preferred
Name
Pyruvate Dehydrogenase Phosphatase Deficiency
Role
preferred
Name
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Role
preferred
Name
Phosphoenolpyruvate Carboxykinase Deficiency
Role
preferred
Name
Pyruvate Carboxylase Deficiency Disease
Role
preferred
Name
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
Role
preferred
Name
Pyruvate Dehydrogenase E1-Alpha Deficiency
Role
preferred
Name
ATAXIA WITH LACTIC ACIDOSIS I
Role
alias
Name
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
Role
alias
Name
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY
Role
alias
Name
LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
Role
alias
Name
LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
Role
alias
Name
LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
Role
alias
Name
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
Role
alias
Name
PCK1 DEFICIENCY, CYTOSOLIC
Role
alias
Name
PDH DEFICIENCY
Role
alias
Name
PDHAD
Role
alias
Name
PDHBD
Role
alias
Name
PDHDD
Role
alias
Name
PDHPD
Role
alias
Name
PDHXD
Role
alias
Name
PEPCK DEFICIENCY, CYTOSOLIC
Role
alias
Name
PYRUVATE DECARBOXYLASE DEFICIENCY
Role
alias
Name
PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY
Role
alias
Name
Pyruvate Carboxylase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002559HBDIS002560HBDIS006212HBDIS011376HBDIS011377HBDIS011378HBDIS015569HBDIS015753HBDIS017171HBDIS017172HBDIS021234
Me Sh
D015324D015325
Omim
245348245349261680266150312170608782614111
Umls
C0034345C0268194C0751597C1837429C1839413C1855553C1855565C3279841
Icd10
E74.4
Sym Map
SMDE02159SMDE02228SMDE02351SMDE03413SMDE04232SMDE04894SMDE12641SMDE12642SMDE12643
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0034341C0034345C0268194C0751595C0751596C0751597C1837429C1839413C1855553C1855565C3279841
Umls Sty
T047
Me Sh Class
C06C10C16C18
Tcmbank Disease
12719182461853723296249125115296029956309493183032132
Itcmdb Generated
ITX-DISEASE-A2B30C558E0A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
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
Disease Definition
NCI2016_02D:A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia.|MSH2017_2016_08_12:An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.|JABL99:An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually associated with slow physical and mental development, microcephaly, dysgenesis and atrophic changes in the brain, cerebellar ataxia, seizures, and spasticity. Pyruvate dehydrogenase phosphatase (EC 3.1.3.43) deficiency has been found to occur in Leigh syndrome.NCI2016_02D:A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.|MSH2017_2016_08_12:An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)NCI2016_02D:A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome