| Concept UI |
CON00025 (Tree)
|
| Name |
Mucolipidosis II (alpha/beta)
|
| Aliases |
ML-II
I-cell disease
N-Acetylglucosamine-1-phosphotransferase deficiency
|
| Disease name: Preferred Term |
MUCOLIPIDOSIS II ALPHA/BETA
|
| Disease name: Synonyms (from OMIM and MeSH) |
ICD
ML II ALPHA/BETA
MUCOLIPIDOSIS II
ML II
CELL DISEASE
|
| UMLS CUI |
C0020725
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D009081
|
| OMIM DATA: Gene |
GNPTAB
|
| OMIM DATA: Gene Number |
607840
|
| OMIM DATA: Phenotype Number |
252500
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Airway Obstruction
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Contracture
- Craniofacial Abnormalities
- Developmental Disabilities
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Gingival Hyperplasia
- Gingival Overgrowth
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Heart Diseases
- Heart Valve Diseases
- Hernia, Abdominal
- Hernia, Inguinal
- Hernia, Umbilical
- Hernia, Ventral
- Hip Dislocation, Congenital
- Hoarseness
- Intellectual Disability (Mental Retardation)
- Joint Diseases
- Kyphosis
- Language Disorders
- Limb Deformities, Congenital
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mental Retardation, X-Linked
- Mobility Limitation
- Motor Skills Disorders
- Mucolipidoses
- Muscle Hypotonia
- Musculoskeletal Abnormalities
- Neuromuscular Manifestations
- Otitis
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Speech Disorders
- Spinal Curvatures
- Stomatognathic System Abnormalities
|
|
References
|
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
95
|