ITCMDBv1
DiseaseID 4642

黏多糖贮积症III D型

disease

NCI2016_02D:A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.

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Disease: 1Formula: 24Herb: 4Symptom: 12Target: 22Links: 64
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Record Fields

Scalar fields from the final disease record.

Disease Id
4642
Core Entity Id
61020
Source Entity Count
1
Preferred Name
Mps Iii D
Name Cn
黏多糖贮积症III D型
Name Pinyin
Nian Duo Tang Zhu Ji Zheng Iii d Xing
Name En
Mps Iii D
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
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
NCI2016_02D:A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.|MSH2017_2016_08_12:Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.|JABL99:An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 3.10.1.1) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (3.1.6.14) deficiency.|CSP2006:mucopolysaccharidosis characterized by heparin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders.
Version
v1
Suppressed
No

Names

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

Name
Mps Iii D
Role
preferred
Name
Mucopolysaccharidosis Iii
Role
preferred
Name
Mucopolysaccharidosis, Type Iiia
Role
preferred
Name
Mucopolysaccharidosis, Type Iiib
Role
preferred
Name
Mucopolysaccharidosis, Type Iiic
Role
preferred
Name
Mucopolysaccharidosis, Type Iiid
Role
preferred
Name
MPS III B
Role
preferred
Name
MPS III C
Role
preferred
Name
Mucopolysaccharidosis Type IIIA
Role
preferred
Name
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
Role
alias
Name
HEPARAN SULFATE SULFATASE DEFICIENCY
Role
alias
Name
MPS IIIA
Role
alias
Name
MPS IIIB
Role
alias
Name
MPS IIIC
Role
alias
Name
MPS IIID
Role
alias
Name
MPS3A
Role
alias
Name
MPS3B
Role
alias
Name
MPS3C
Role
alias
Name
MPS3D
Role
alias
Name
Mucopolysaccharidosis Type Iiib
Role
alias
Name
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
Role
alias
Name
N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY
Role
alias
Name
NAGLU DEFICIENCY
Role
alias
Name
SANFILIPPO SYNDROME A
Role
alias
Name
SANFILIPPO SYNDROME B
Role
alias
Name
SANFILIPPO SYNDROME C
Role
alias
Name
SANFILIPPO SYNDROME D
Role
alias
Name
SULFAMIDASE DEFICIENCY
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS001983HBDIS003418HBDIS003419HBDIS003420HBDIS003421
Me Sh
D009084
Omim
252900252920252930252940
Umls
C0026706C0086647C0086648C0086649C0086650
Icd10
E76.22
Sym Map
SMDE00532SMDE03479SMDE04920SMDE05039SMDE11130
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0026706C0086647C0086648C0086649C0086650
Umls Sty
T047
Me Sh Class
C16C17C18
Etcm Disease
Mucopolysaccharidosis IiiMucopolysaccharidosis, Type IiiaMucopolysaccharidosis, Type IiibMucopolysaccharidosis, Type IiicMucopolysaccharidosis, Type Iiid
Tcmbank Disease
12550147632416308747074
Itcmdb Generated
ITX-DISEASE-2B8B1A9509DDITX-DISEASE-3512B217DB7BITX-DISEASE-50D1C45EB734ITX-DISEASE-5B653B3D6BE5ITX-DISEASE-A534E2EA5D0DITX-DISEASE-EE5782FFCB74

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Mucopolysaccharidosis Iii Details pageDisease Mucopolysaccharidosis, Type Iiia Details pageDisease Mucopolysaccharidosis, Type Iiib Details pageDisease Mucopolysaccharidosis, Type Iiic Details pageDisease Mucopolysaccharidosis, Type Iiid Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mucopolysaccharidosis Iii
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Name
Mucopolysaccharidosis, Type Iiia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Name
Mucopolysaccharidosis, Type Iiib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Name
Mucopolysaccharidosis, Type Iiic
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Name
Mucopolysaccharidosis, Type Iiid
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.|MSH2017_2016_08_12:Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.|JABL99:An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 3.10.1.1) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (3.1.6.14) deficiency.|CSP2006:mucopolysaccharidosis characterized by heparin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders.NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
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