DiseaseID 4484
赫尔勒-沙伊综合征
disease
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart di
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 12Target: 20Links: 36
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4484
- Core Entity Id
- 60838
- Source Entity Count
- 1
- Preferred Name
- Hurler-Scheie Syndrome
- Name Cn
- 赫尔勒-沙伊综合征
- Name Pinyin
- He Er Lei - Sha Yi Zong He Zheng
- Name En
- Hurler-Scheie Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of the skeletal system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart di
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hurler-Scheie Syndrome
Role
preferred
Name
Alpha-L-Iduronidase Deficiency
Role
preferred
Name
Hurler Syndrome
Role
preferred
Name
Mucopolysaccharidosis I
Role
preferred
Name
Scheie Syndrome
Role
preferred
Name
Mucopolysaccharidosis V
Role
preferred
Name
Pfaundler-Hurler Syndrome
Role
preferred
Name
Dysostosis Multiplex
Role
alias
Name
Hurler Disease
Role
alias
Name
MPS V, FORMERLY
Role
alias
Name
MPS1H
Role
alias
Name
MPS1H/S
Role
alias
Name
MPS1S
Role
alias
Name
MPS5, FORMERLY
Role
alias
Name
MPSIH
Role
alias
Name
MPSIH/S
Role
alias
Name
MPSIS
Role
alias
Name
MUCOPOLYSACCHARIDOSIS TYPE IS
Role
alias
Name
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY
Role
alias
Name
Mucopolysaccharidosis Ih
Role
alias
Name
Mucopolysaccharidosis Ih/S
Role
alias
Name
Mucopolysaccharidosis Type 1H
Role
alias
Name
Mucopolysaccharidosis Type 1H/S
Role
alias
Name
Mucopolysaccharidosis Type 1S
Role
alias
Name
Mucopolysaccharidosis Type IH
Role
alias
Name
Mucopolysaccharidosis Type IH/S
Role
alias
Name
Mucopolysaccharidosis, Type I
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000943
Herb
HBDIS001749HBDIS001985HBDIS003399HBDIS003432HBDIS019654
Me Sh
D008059
Omim
607014607015607016
Umls
C0023786C0026708C0086431C0086795C2713321
Icd10
E76.0
Med Dra
10056916
Sym Map
SMDE00498SMDE01095SMDE02584SMDE05731SMDE11129
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0023786C0026708C0086431C0086795C2713321
Orphanet
934739347493476
Umls Sty
T047
Hpo Class
HP:0000924
Me Sh Class
C16C17C18
Etcm Disease
Hurler SyndromeHurler-Scheie Syndrome
Tcmbank Disease
1126516682501029092399
Itcmdb Generated
ITX-DISEASE-655834E5B021ITX-DISEASE-7590DED2BC63ITX-DISEASE-86BDA0DF5665ITX-DISEASE-DBD7BE9ABFA5
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hurler Syndrome Details pageDisease Hurler-Scheie Syndrome Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the skeletal system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the skeletal system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hurler Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Neuronal diseases
Disease Name
Hurler-Scheie Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Neuronal diseases
Disease Definition
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart diHurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosNCI2016_02D:The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).|MSH2017_2016_08_12:Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.|JABL99:Inborn mucopolysaccharide metabolism disorder with alpha-L-iduronidase deficiency in leukocytes and fibroblasts and abnormal mucopolysaccharide incorporation and degradation by fibroblasts. Three types are recognized. All three types have similar laboratory findings, except that the fibroblasts in MPS-I-H are heat-stable, whereas in MPS-I-S they are heat-labile. Otherwise, the distinction is mainly clPinical. Johnie McL was the patient in whom the syndrome was observed, hence the synonym Johnie McL syndrome.mucopolysaccharidosis (MPS) I-H Synonyms: Hurler syndrome gargoylism) The most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia and heart failure. Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during the second year of life.mucopolysaccharidosis (MPS) I-S Synonyms: Scheie syndrome late Hurler syndrome forme fruste of Hurler syndrome Ullrich-Scheie syndrome Spat-Hurler syndrome A more moderate form which is marked by corneal opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications. The condition is seldom recognized during infancy or early childhood.mucopolysaccharidosis (MPS) H/I-S Synonyms: Hurler-Scheie syndrome, phenotype, compound, genetic compound, or syndrome An intermediate form between Hurler and Scheie syndromes, including short stature, dysostosis multiplex, hepatosplenomegaly, corneal clouding, umbilical or inguinal hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years. The symptoms usually become apparent by the age of two years.|CSP2006:autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Me Sh Disease Class
Skin and Connective Tissue 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; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or Syndrome