DiseaseID 7589
BH4缺乏性高苯丙氨酸血症，B型
disease
SNOMEDCT_US_2016_09_01:Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile
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Disease: 1Symptom: 6Target: 20Links: 30
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7589
- Core Entity Id
- 64409
- Source Entity Count
- 1
- Preferred Name
- Hyperphenylalaninemia, Bh4-Deficient, B
- Name Cn
- BH4缺乏性高苯丙氨酸血症，B型
- Name Pinyin
- Bh4 Que Fa Xing Gao Ben Bing An Suan Xue Zheng ，b Xing
- Name En
- Hyperphenylalaninemia, Bh4-Deficient, B
- 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
- 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 Definition
- SNOMEDCT_US_2016_09_01:Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperphenylalaninemia, Bh4-Deficient, B
Role
preferred
Name
Segawa Syndrome, Autosomal Recessive
Role
preferred
Name
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
Role
alias
Name
GTP CYCLOHYDROLASE I DEFICIENCY
Role
alias
Name
HPABH4B
Role
alias
Name
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006323
Omim
233910
Umls
C0268467C2673535
Sym Map
SMDE00173SMDE03953
Dis Ge Net
C0268467
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Hyperphenylalaninemia, Bh4-Deficient, B
Tcmbank Disease
30642
Itcmdb Generated
ITX-DISEASE-D7C2F6673BDF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hyperphenylalaninemia, Bh4-Deficient, B Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyperphenylalaninemia, Bh4-Deficient, B
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner.
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