DiseaseID 3270
褐黄病
disease
Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connectiv
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Disease: 1Formula: 6Herb: 10Symptom: 12Target: 20Links: 53
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3270
- Core Entity Id
- 59456
- Source Entity Count
- 1
- Preferred Name
- Ochronosis
- Name Cn
- 褐黄病
- Name Pinyin
- He Huang Bing
- Name En
- Ochronosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
- Do Class
- genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Abnormality of the integument
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
- Hpo Class Name
- Abnormality of the integument
- Do Class Name
- disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connectiv
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ochronosis
Role
preferred
Name
Alkaptonuria
Role
preferred
Name
Hawkinsinuria
Role
preferred
Name
Ochronosis, Hereditary
Role
preferred
Name
Tyrosinemia Type 1
Role
preferred
Name
4-HPPD Deficiency
Role
alias
Name
4-alpha-hydroxyphenylpyruvate Hydroxylase Deficiency
Role
alias
Name
4-hydroxyphenylpyruvic Acid Dioxygenase Deficiency
Role
alias
Name
AKU
Role
alias
Name
HOMOGENTISIC ACID OXIDASE DEFICIENCY
Role
alias
Name
Hereditary Ochronosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0030764
Herb
HBDIS000107HBDIS002154HBDIS020207HBDIS020324
Me Sh
D000474D009794
Omim
140350203500
Umls
C0002066C0028817C0268490C2931042C2931645
Icd10
E70.2E70.29
Med Dra
1000168910069462
Sym Map
SMDE00059SMDE00249SMDE01673SMDE11574SMDE11575
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0002066C0028817C2931042C2931645
Orphanet
211856882
Umls Sty
T047
Hpo Class
HP:0001574
Me Sh Class
C10C16C18C23
Etcm Disease
AlkaptonuriaHawkinsinuria
Tcmbank Disease
1211527840319155791
Itcmdb Generated
ITX-DISEASE-B3352E9DA1EEITX-DISEASE-F971B5F9399F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Alkaptonuria Details pageDisease Hawkinsinuria Details page
Do Class Name
disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the integument
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the integument
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Alkaptonuria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Nephrological diseases;Skin diseases
Disease Name
Hawkinsinuria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Definition
Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connectivHawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metaboliNCI2016_02D:A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.|MSH2017_2016_08_12:The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).|HPO2016_07_04:Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. [] {comment="HPO:probinson", comment="PMID:24447956", comment="PMID:26929770"}|AIR93:WHAT: Ochronosis. Ochronosis: the pathologic accumulation of a blue-black pigment in the connective tissues of persons with alkaptonuria, a rare inborn error of metabolism. These persons lack the enzyme homogentisic acid oxidase, resulting in a buildup of homogentisic acid, a precursor of the pigment. WHY: The great majority of patients with ochronosis eventually develop an arthropathy clinically resembling degenerative joint disease. HOW: Ochronosis is diagnosed by the combination of pigmentation of the cartilage, the presence of homogentisic acid in the urine, and arthritis usually involving the knees, hips, lumbosacral spine, and shoulders. The slate blue-black pigmentation is most apparent in the sclera of the eyes, the external ears, and the tympanic membranes. The cerumen may also show a dark discoloration. The presence of homogentisic acid in the urine is determined by the dark color which occurs when the urine is alkalinized and by paper chromatography. REFS: Schumacher HR and Holdsworth DE: Ochronotic arthropathy I. Clinico-pathologic Studies. Semin Arthritis Rheum 6:207, 1977. DN19296-1.Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Disease or Syndrome