| Concept UI |
CON00011 (Tree)
|
| Name |
Beta-mannosidosis
|
| Aliases |
Beta-mannosidase deficiency
|
| Disease name: Preferred Term |
MANNOSIDOSIS, BETA A, LYSOSOMAL
|
| Disease name: Preferred Term ABBR |
MANSB
|
| Disease name: Synonyms (from OMIM and MeSH) |
LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY
BETA-MANNOSIDOSIS
BETA-MANNOSIDASE DEFICIENCY
|
| UMLS CUI |
C0342849
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C538599
|
| OMIM DATA: Gene |
MANBA
|
| OMIM DATA: Gene Number |
609489
|
| OMIM DATA: Phenotype Number |
248510
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Angiokeratoma
- Behavior
- Behavioral Symptoms
- Bone Diseases, Developmental
- Child Reactive Disorders
- Craniofacial Abnormalities
- Deglutition Disorders (Swallowing difficulty)
- Depression
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hypesthesia (Numbness)
- Intellectual Disability (Mental Retardation)
- Language Disorders
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Motor Skills Disorders
- Muscle Hypotonia
- Neoplasms, Vascular Tissue
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Diseases
- Neuromuscular Manifestations
- Otitis
- Peripheral Nervous System Diseases
- Pharyngeal Diseases
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Somatosensory Disorders
- Speech Disorders
- Stomatognathic System Abnormalities
- Epilepsy
- Esophageal Diseases
|
|
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 |
77
|