| Concept UI |
CON00012 (Tree)
|
| Name |
Sialidosis
|
| Aliases |
Mucolipidosis I
Neuraminidase deficiency
|
| Disease name: INCLUDED |
MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED
CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED
SIALIDOSIS, TYPE I, INCLUDED
|
| Disease name: Preferred Term |
NEURAMINIDASE DEFICIENCY
|
| Disease name: Synonyms (from OMIM and MeSH) |
ML I
NEUG DEFICIENCY
SIALIDASE DEFICIENCY
GLYCOPROTEIN NEURAMINIDASE DEFICIENCY
NEU DEFICIENCY
SIALIDOSIS, TYPE II
MUCOLIPIDOSIS I
NEURAMINIDASE 1 DEFICIENCY
LIPOMUCOPOLYSACCHARIDOSIS
NEU1 DEFICIENCY
|
| UMLS CUI |
C0268226
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D009081
|
| OMIM DATA: Gene |
NEU1
|
| OMIM DATA: Gene Number |
608272
|
| OMIM DATA: Phenotype Number |
256550
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Angiokeratoma
- Ataxia
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Craniofacial Abnormalities
- Dwarfism (Short stature disorder)
- Dyskinesias
- Dysostoses (Dysostosis multiplex)
- Edema
- Gait Disorders, Neurologic
- Gingival Hyperplasia
- Gingival Overgrowth
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hepatomegaly
- Hydrops Fetalis
- Intellectual Disability (Mental Retardation)
- Liver Diseases
- Lymphatic Diseases
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Movement Disorders
- Mucolipidoses
- Myoclonus
- Neoplasms, Vascular Tissue
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Splenic Diseases
- Stomatognathic System Abnormalities
- Tremor
- Vision Disorders
- Vision, Low
- Epilepsy
|
|
References
|
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation.
- 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.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
78
|