DiseaseID 25966
鸟氨酸转氨甲酰酶缺乏症所致高氨血症
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
NCI2016_02D:An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizu
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Disease: 1Symptom: 8Target: 2Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25966
- Core Entity Id
- 118534
- Source Entity Count
- 1
- Preferred Name
- Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
- Name Cn
- 鸟氨酸转氨甲酰酶缺乏症所致高氨血症
- Name Pinyin
- Niao An Suan Zhuan An Jia Xian Mei Que Fa Zheng Suo Zhi Gao An Xue Zheng
- Name En
- Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.|MSH2017_2016_08_12:An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)|JABL99:Inborn error of metabolism of the urea cycle due to ornithine carbomoyltransferase (E.C. 2.1.3.3) deficiency associated with hyperammonemia and accumulation of ammonia in the brain and liver. In most cases the early symptoms appear within the first three days of life and include respiratory distress, feeding difficulty, hypotonia, lethargy, and death in untreated cases. Neonatal hyperammonemic coma lasting longer than 48 hours usually results in cortical atrophy and mental retardation. In late-onset OTC deficiency the symptoms appear from 2 months to 44 years with normal appearance at birth, followed by irritability, vomiting, lethargy, seizures, delayed development, ataxia, and seizures. Accumulation of ammonium in the brain and blood usually follows a protein load or intermittent infection. OTC deficient patients are particularly sensitive to toxic effects of valproate.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268542C1839530
Sym Map
SMDE01312
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
NCI2016_02D:An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.|MSH2017_2016_08_12:An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)|JABL99:Inborn error of metabolism of the urea cycle due to ornithine carbomoyltransferase (E.C. 2.1.3.3) deficiency associated with hyperammonemia and accumulation of ammonia in the brain and liver. In most cases the early symptoms appear within the first three days of life and include respiratory distress, feeding difficulty, hypotonia, lethargy, and death in untreated cases. Neonatal hyperammonemic coma lasting longer than 48 hours usually results in cortical atrophy and mental retardation. In late-onset OTC deficiency the symptoms appear from 2 months to 44 years with normal appearance at birth, followed by irritability, vomiting, lethargy, seizures, delayed development, ataxia, and seizures. Accumulation of ammonium in the brain and blood usually follows a protein load or intermittent infection. OTC deficient patients are particularly sensitive to toxic effects of valproate.