DiseaseID 5547

苯丙酮尿症

disease

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Disease: 1Symptom: 12Target: 18Links: 36

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Record Fields

Scalar fields from the final disease record.

Disease Id: 5547
Core Entity Id: 62066
Source Entity Count: 1
Preferred Name: Phenylketonurias
Name Cn: 苯丙酮尿症
Name Pinyin: Ben Bing Tong Niao Zheng
Name En: Phenylketonurias
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 DiseasesNervous System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Do Class: genetic disease; disease of metabolism
Hpo Class: Abnormality of metabolism/homeostasis
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Hpo Class Name: Abnormality of metabolism/homeostasis
Do Class Name: disease of metabolism; genetic disease
Disease Definition: Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuro
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Phenylketonurias

Role

preferred

Name

Classic Phenylketonuria

Role

preferred

Name

Hyperphenylalaninaemia

Role

preferred

Name

Hyperphenylalaninemia, Non-Pku Mild

Role

preferred

Name

Phenylketonuria

Role

preferred

Name

Phenylketonuria, Maternal

Role

preferred

Name

Classical Phenylketonuria

Role

preferred

Name

Hyperphenylalaninemia, Non-Phenylketonuric

Role

preferred

Name

Phenylketonuria II

Role

preferred

Name

Reduced Phenylalanine Hydroxylase Activity

Role

preferred

Name

Classic PKU

Role

alias

Name

Dhpr Deficiency

Role

alias

Name

FOLLING DISEASE

Role

alias

Name

HPA, NON-PKU MILD

Role

alias

Name

Hyperphenylalaninemia

Role

alias

Name

Hyperphenylalaninemia, Bh4-Deficient, C

Role

alias

Name

OLIGOPHRENIA PHENYLPYRUVICA

Role

alias

Name

PAH DEFICIENCY

Role

alias

Name

PHENYLALANINE HYDROXYLASE DEFICIENCY

Role

alias

Name

PKU

Role

alias

Name

Phenylketonuria, Classical

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0004923HP:0005982

Herb

HBDIS002380HBDIS003301HBDIS006322HBDIS011291HBDIS011292HBDIS011293HBDIS019554HBDIS024882

Me Sh

D010661D017042

Omim

261600261630

Umls

C0031485C0085547C0751434C0751435C2678416

Icd10

E70.0

Med Dra

10034875

Sym Map

SMDE03618SMDE04657SMDE09640SMDE09642SMDE12136SMDE12137

Do Class

DOID:0014667DOID:630

Dis Ge Net

C0031485C0085547C0268465C0751434C0751435C0751436C2678416C4025094

Orphanet

79254

Umls Sty

T033T047

Hpo Class

HP:0001939

Me Sh Class

C10C13C16C18

Etcm Disease

Classic Phenylketonuria

Tcmbank Disease

16422288203190036064981812883109319

Itcmdb Generated

ITX-DISEASE-396C4E23D586ITX-DISEASE-8C8D6EE672CAITX-DISEASE-A7B458F526DAITX-DISEASE-E34D8B24BBA9

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2v2

Suppress

Page Title

Disease Classic Phenylketonuria Details page

Do Class Name

disease of metabolism; genetic disease

Disease Type

diseasegroupphenotype

Hpo Class Name

Abnormality of metabolism/homeostasis

Do Disease Class

genetic disease; disease of metabolism

Hpo Disease Class

Abnormality of metabolism/homeostasis

Umls Disease Type

Disease or SyndromeFinding

Basic Information

Disease Name

Classic Phenylketonuria

Global Category

Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Definition

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuroHPO2016_07_04:An increased concentration of L-phenylalanine in the blood. [HPO:probinson]|CSP2006:any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism.MSH2017_2016_08_12:A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)NCI2016_NCI-GLOSS_1602D:An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine.|NCI2016_02D:An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.|MSH2017_2016_08_12:A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).|MEDLINEPLUS_20151021:Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a <a href='https://www.nlm.nih.gov/medlineplus/newbornscreening.html'>screening</a> test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives. NIH: National Institute of Child Health and Human Development|CSP2006:group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize protein|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize protein|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize protein|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine|CHV2011_02:A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine

Me Sh Disease Class

Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

Dis Ge Net Disease Type

diseasegroupphenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases

Umls Semantic Type Name

Disease or SyndromeFinding