DiseaseID 7542
青少年奥斯汀型硫脂沉积病
disease
NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retarda
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7542
- Core Entity Id
- 64352
- Source Entity Count
- 1
- Preferred Name
- Sulfatidosis, Juvenile, Austin Type
- Name Cn
- 青少年奥斯汀型硫脂沉积病
- Name Pinyin
- Qing Shao Nian Ao Si Ting Xing Liu Zhi Chen Ji Bing
- Name En
- Sulfatidosis, Juvenile, Austin Type
- 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 Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.|MSH2017_2016_08_12:An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.|JABL99:A syndrome combining the characteristics of metachromatic leukodystrophy and mucopolysaccharidosis, marked by multiple sulfatase deficiency associated with ichthyosis, dysostosis multiplex, psychomotor retardation, and coarse facies.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sulfatidosis, Juvenile, Austin Type
Role
preferred
Name
Multiple Sulfatase Deficiency Disease
Role
preferred
Name
Mucosulfatidosis
Role
alias
Name
Multiple Sulfatase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006234HBDIS014914
Me Sh
D052517
Omim
272200
Sym Map
SMDE11156SMDE13729
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268263C1720864
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
246983187
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
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
Disease Definition
NCI2016_02D:A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.|MSH2017_2016_08_12:An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.|JABL99:A syndrome combining the characteristics of metachromatic leukodystrophy and mucopolysaccharidosis, marked by multiple sulfatase deficiency associated with ichthyosis, dysostosis multiplex, psychomotor retardation, and coarse facies.
Me Sh Disease Class
Nervous System 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; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome