DiseaseID 5112
桑德霍夫病
disease
NCI2016_02D:An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides i
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Disease: 1Symptom: 7Target: 2Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5112
- Core Entity Id
- 61560
- Source Entity Count
- 1
- Preferred Name
- Sandhoff Disease
- Name Cn
- 桑德霍夫病
- Name Pinyin
- Sang De Huo Fu Bing
- Name En
- Sandhoff Disease
- 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:An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.|MSH2017_2016_08_12:An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.|CSP2006:autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sandhoff Disease
Role
preferred
Name
Sandhoff Disease, Adult Type
Role
preferred
Name
Sandhoff Disease, Infantile Type
Role
preferred
Name
Sandhoff Disease, Juvenile Type
Role
preferred
Name
Adult Sandhoff Disease
Role
preferred
Name
Infantile Sandhoff Disease
Role
preferred
Name
Juvenile Sandhoff Disease
Role
preferred
Name
Total Hexosaminidase Deficiency
Role
preferred
Name
GM2-GANGLIOSIDOSIS, TYPE II
Role
alias
Name
HEXOSAMINIDASES A AND B DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002667HBDIS011323HBDIS011324HBDIS011325HBDIS016591HBDIS016592HBDIS016593HBDIS019663
Me Sh
D012497
Omim
268800
Umls
C0036161C1849320C1849321C1849322
Sym Map
SMDE01168SMDE12946SMDE12947SMDE12948
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0036161C0751489C0751490C0751491C1849320C1849321C1849322C2713499
Umls Sty
T047
Me Sh Class
C10C16C18
Tcmbank Disease
1161917111216782202923745242372675731016
Itcmdb Generated
ITX-DISEASE-BC8B1DFD4E5F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
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:An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.|MSH2017_2016_08_12:An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.|CSP2006:autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease.
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