loading...| Preferred Name |
Mucolipidosis type II |
|
| Synonyms |
I-cell disease |
|
| Definitions |
A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_576 |
|
| alternative_term |
I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency Mucolipidosis type II alpha/beta |
|
| definition |
A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:5C56.20 MedDRA:10072928 OMIM:252500 ICD-10:E77.0 UMLS:C0020725 MeSH:C538602 |
|
| label |
Mucolipidosis type II |
|
| notation |
ORPHA:576 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_79212 |
|
| prefixIRI |
ORDO:Orphanet_576 |
|
| prefLabel |
Mucolipidosis type II |
|
| present_in |
Sweden AND has_birth_prevalence_average_value : 0.05 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.81 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Specific population AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_79212 |
|
| subClassOf |