| Concept UI |
CON00055 (Tree)
|
| Name |
Tay-Sachs disease
|
| Aliases |
GM2-gangliosidosis, type I
GM2-Gangliosidosis, B variant
Hexosaminidase A deficiency
|
| Disease name: INCLUDED |
HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED
TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED
GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED
TAY-SACHS DISEASE, VARIANT B1, INCLUDED
GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED
TAY-SACHS DISEASE, JUVENILE, INCLUDED
|
| Disease name: Preferred Term |
TAY-SACHS DISEASE
|
| Disease name: Preferred Term ABBR |
TSD
|
| Disease name: Synonyms (from OMIM and MeSH) |
HEXA DEFICIENCY
B VARIANT GM2-GANGLIOSIDOSIS
HEXOSAMINIDASE A DEFICIENCY
GM2-GANGLIOSIDOSIS, TYPE I
|
| UMLS CUI |
C0039373
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D013661
|
| OMIM DATA: Gene |
HEXA
|
| OMIM DATA: Gene Number |
606869
|
| OMIM DATA: Phenotype Number |
272800
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Ataxia
- Blindness (Vision loss)
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Demyelinating Diseases
- Developmental Disabilities
- Dyskinesias
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hereditary Central Nervous System Demyelinating Diseases
- Intellectual Disability (Mental Retardation)
- Language Disorders
- Lymphatic Diseases
- Mental Disorders
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Movement Disorders
- Muscle Hypertonia
- Muscle Spasticity
- Muscle Weakness
- Muscular Diseases
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Diseases
- Neuromuscular Manifestations
- Paralysis
- Peripheral Nervous System Diseases
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Speech Disorders
- Splenic Diseases
- Vision Disorders
- Epilepsy
|
|
References
|
- Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
57
|