DiseaseID 5277

泰-萨克斯病

disease

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: 4Target: 12Links: 16

Arranging relationship network...

Record Fields

Scalar fields from the final disease record.

Disease Id: 5277
Core Entity Id: 61751
Source Entity Count: 1
Preferred Name: Tay-Sachs Disease
Name Cn: 泰-萨克斯病
Name Pinyin: Tai - Sa Ke Si Bing
Name En: Tay-Sachs 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:A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.|MSH2017_2016_08_12:An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.|MEDLINEPLUS_20151021:Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes. NIH: National Institute of Neurological Disorders and Stroke|CSP2006:autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
Version: v1,v2
Suppressed: No

Names

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

Name

Tay-Sachs Disease

Role

preferred

Name

Gm2-Gangliosidosis, Variant B1

Role

preferred

Name

Hexosaminidase A Deficiency, Adult Type

Role

preferred

Name

Hexosaminidase Alpha-Subunit Deficiency (Variant B)

Role

preferred

Name

Tay-Sachs Disease, Juvenile

Role

preferred

Name

Tay-Sachs Disease, Variant B1

Role

preferred

Name

Amaurotic Familial Idiocy

Role

preferred

Name

HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE

Role

preferred

Name

Hexa, Czechoslovakian Allele

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS002909HBDIS007244HBDIS016523HBDIS016524HBDIS016525HBDIS016527HBDIS019796HBDIS023458

Me Sh

D013661

Omim

272800

Umls

C0039373C1848913C1848914C1848915C1848916C1848917C1848922C2749283

Sym Map

SMDE00812SMDE09091SMDE09464SMDE09465SMDE13806SMDE13808

Do Class

DOID:0014667DOID:630

Dis Ge Net

C0039373C0282220C1848913C1848914C1848916C1848922C2749283C4017633

Umls Sty

T033T047

Me Sh Class

C10C16C18

Tcmbank Disease

179291949222025225432858230999321288657

Itcmdb Generated

ITX-DISEASE-D4B9BF394D7EITX-DISEASE-F063A158401A

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2v2

Suppress

Do Class Name

disease of metabolism; genetic disease

Disease Type

diseasephenotype

Do Disease Class

genetic disease; disease of metabolism

Umls Disease Type

Disease or SyndromeFinding

Disease Definition

NCI2016_02D:A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.|MSH2017_2016_08_12:An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.|MEDLINEPLUS_20151021:Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4. The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes. NIH: National Institute of Neurological Disorders and Stroke|CSP2006:autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.

Me Sh Disease Class

Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

Dis Ge Net Disease Type

diseasephenotype

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 SyndromeFinding