Disease (ORPHA:79243):
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate decarboxylase deficiency
PDHAD

Associated phenotypes (HPO):
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0500231
hpo_term: Abnormal CSF pyruvate family amino acid concentration
chpo_term: 脑脊液丙酮酸家族氨基酸浓度异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0004902
hpo_term: Congenital lactic acidosis
chpo_term: 先天性乳酸酸中毒
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0011196
hpo_term: EEG with focal sharp waves
chpo_term: 脑电图，局灶性尖波
id: HP:0011199
hpo_term: EEG with generalized sharp slow waves
chpo_term: 脑电图，伴广泛性尖慢波
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0025361
hpo_term: Abnormality of medullary pyramid morphology
chpo_term: 髓锥体形态异常
id: HP:0030917
hpo_term: Low APGAR score
chpo_term: 低APGAR评分
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0006799
hpo_term: Basal ganglia cysts
chpo_term: 基底节囊肿
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0006999
hpo_term: Basal ganglia gliosis
chpo_term: 基底节胶质细胞增生
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012128
hpo_term: Basal ganglia necrosis
chpo_term: 基底节坏死
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012698
hpo_term: Cerebellar gliosis
chpo_term: 小脑胶质细胞增生