| Descriptor English: | Mucolipidoses | ||||||
| Descriptor Spanish: |
Mucolipidosis
| ||||||
| Descriptor Portuguese: | Mucolipidoses | ||||||
| Descriptor French: | Mucolipidoses | ||||||
| Entry term(s): |
Cherry Red Spot Myoclonus Syndrome Cherry Red Spot-Myoclonus Syndrome Deficiencies, Glycoprotein Neuraminidase Deficiency Disease, Ganglioside Sialidase Deficiency, Glycoprotein Neuraminidase Ganglioside Sialidase Deficiency Disease Glycoprotein Neuraminidase Deficiencies Glycoprotein Neuraminidase Deficiency I Cell Disease I-Cell Disease I-Cell Diseases Inclusion Cell Disease Inclusion Cell Diseases Lipomucopolysaccharidoses Lipomucopolysaccharidosis Mucolipidoses, Type I Mucolipidoses, Type II Mucolipidoses, Type III Mucolipidoses, Type IV Mucolipidosis Mucolipidosis I Mucolipidosis II Mucolipidosis III Mucolipidosis III Alpha Beta Mucolipidosis IIIa Mucolipidosis IV Mucolipidosis Type 1 Mucolipidosis Type I Mucolipidosis Type II Mucolipidosis Type III Mucolipidosis Type IV Mucolipidosis, Type I Mucolipidosis, Type II Mucolipidosis, Type III Mucolipidosis, Type IV Myoclonus Cherry Red Spot Syndrome Myoclonus-Cherry Red Spot Syndrome Polydystrophy, Pseudo-Hurler Pseudo Hurler Polydystrophy Pseudo-Hurler Polydystrophy Psuedo Hurler Disease Psuedo-Hurler Disease Psuedo-Hurler Diseases Sialidoses Sialidosis Sialolipidoses Sialolipidosis Type I Mucolipidoses Type I Mucolipidosis Type II Mucolipidoses Type II Mucolipidosis Type III Mucolipidoses Type III Mucolipidosis Type IV Mucolipidoses Type IV Mucolipidosis |
||||||
| Tree number(s): |
C05.116.198.371 C10.228.140.163.100.435.590 C16.320.565.189.435.590 C16.320.565.202.670 C16.320.565.595.554.590 C18.452.132.100.435.590 C18.452.648.189.435.590 C18.452.648.202.670 C18.452.648.595.554.590 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009081 | ||||||
| Scope note: | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Previous Indexing: |
Lipid Metabolism, Inborn Errors (1966-1976) Lipochondrodystrophy (1966-1976) Lipoidosis (1966-1976) Mucopolysaccharidosis (1974-1976) |
||||||
| Public MeSH Note: | 2000 |
||||||
| History Note: | 2000(1977) |
||||||
| Related: |
Gangliosidoses
MeSH | ||||||
| DeCS ID: | 9273 | ||||||
| Unique ID: | D009081 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1977/01/01 | ||||||
| Date of Entry: | 1976/05/19 | ||||||
| Revision Date: | 2016/02/26 |
|
|
Mucolipidoses
- Preferred
Type I Mucolipidosis
- Narrower
Type III Mucolipidosis
- Narrower
Type IV Mucolipidosis
- Narrower
Lipomucopolysaccharidosis
- Narrower
Type II Mucolipidosis
- Narrower
| Concept UI |
M0014165 |
| Scope note | A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
| Preferred term | Mucolipidoses |
| Entry term(s) |
Mucolipidosis Sialidoses Sialidosis |
| Concept UI |
M0335702 |
| Preferred term | Type I Mucolipidosis |
| Entry term(s) |
Cherry Red Spot Myoclonus Syndrome Cherry Red Spot-Myoclonus Syndrome Deficiencies, Glycoprotein Neuraminidase Deficiency, Glycoprotein Neuraminidase Glycoprotein Neuraminidase Deficiencies Glycoprotein Neuraminidase Deficiency Mucolipidoses, Type I Mucolipidosis I Mucolipidosis Type 1 Mucolipidosis Type I Mucolipidosis, Type I Myoclonus Cherry Red Spot Syndrome Myoclonus-Cherry Red Spot Syndrome Type I Mucolipidoses |
| Concept UI |
M0335704 |
| Preferred term | Type III Mucolipidosis |
| Entry term(s) |
Mucolipidoses, Type III Mucolipidosis III Mucolipidosis III Alpha Beta Mucolipidosis IIIa Mucolipidosis Type III Mucolipidosis, Type III Polydystrophy, Pseudo-Hurler Pseudo Hurler Polydystrophy Pseudo-Hurler Polydystrophy Psuedo Hurler Disease Psuedo-Hurler Disease Psuedo-Hurler Diseases Type III Mucolipidoses |
| Concept UI |
M0335703 |
| Preferred term | Type IV Mucolipidosis |
| Entry term(s) |
Deficiency Disease, Ganglioside Sialidase Ganglioside Sialidase Deficiency Disease Mucolipidoses, Type IV Mucolipidosis IV Mucolipidosis Type IV Mucolipidosis, Type IV Sialolipidoses Sialolipidosis Type IV Mucolipidoses |
| Concept UI |
M0014164 |
| Preferred term | Lipomucopolysaccharidosis |
| Entry term(s) |
Lipomucopolysaccharidoses |
| Concept UI |
M0014163 |
| Preferred term | Type II Mucolipidosis |
| Entry term(s) |
I Cell Disease I-Cell Disease I-Cell Diseases Inclusion Cell Disease Inclusion Cell Diseases Mucolipidoses, Type II Mucolipidosis II Mucolipidosis Type II Mucolipidosis, Type II Type II Mucolipidoses |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
