| Concept UI |
CON00051 (Tree)
|
| Name |
GM1-gangliosidosis, type I
|
| Aliases |
infantile form
|
| Disease name: INCLUDED |
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
|
| Disease name: Preferred Term |
GM1-GANGLIOSIDOSIS, TYPE I
|
| Disease name: Synonyms (from OMIM and MeSH) |
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
BETA-GALACTOSIDASE-1 DEFICIENCY
GLB1 DEFICIENCY
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM
|
| UMLS CUI |
C0268271
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D016537
|
| OMIM DATA: Gene |
GLB1
|
| OMIM DATA: Gene Number |
611458
|
| OMIM DATA: Phenotype Number |
230500
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Blindness (Vision loss)
- Bone Diseases
- Bone Diseases, Developmental
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Cardiomegaly
- Cardiovascular Diseases
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Craniofacial Abnormalities
- Demyelinating Diseases
- Developmental Disabilities
- Dyskinesias
- Dysostoses (Dysostosis multiplex)
- Dystonia
- Gingival Hyperplasia
- Gingival Overgrowth
- Heart Diseases
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Intellectual Disability (Mental Retardation)
- Liver Diseases
- Lymphatic Diseases
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Muscle Weakness
- Muscular Diseases
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Spinal Diseases
- Splenic Diseases
- Stomatognathic System Abnormalities
- Vision Disorders
- Epilepsy
|
|
References
|
- Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
53
|