loading...| Preferred Name |
Gangliosidosis, GM1 |
|
| Synonyms |
GM1 Gangliosidosis, Type III |
|
| Definitions |
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016537 |
|
| altLabel |
GM1 Gangliosidosis, Type III Gangliosidosis GM1, Infantile Gangliosidosis GM1, Type 1 beta Galactosidase Deficiency GM1-Gangliosidosis, Type I Type I GM1-Gangliosidosis Gangliosidosis, Generalized GM1, Type 1 beta Galactosidase 1 Deficiency Gangliosidosis, Generalized GM1, Type 2 Type II GM1-Gangliosidoses GM1-Gangliosidoses, Type III GM1 Gangliosidosis, Type II Deficiency, beta-Galactosidase-1 Beta Galactosidase 1 Deficiency Disease Gangliosidosis, Generalized GM1, Juvenile Type GM1-Gangliosidoses, Type I Gangliosidosis, Generalized GM1, Type III Gangliosidosis, Generalized GM1 Type 2 Gangliosidosis GM1 Type 3 Generalized Gangliosidosis Gangliosidosis, Generalized GM1, Type I Beta-Galactosidosis GM1 Gangliosidosis Deficiency, beta-Galactosidase Gangliosidosis, Generalized GM1, Chronic Type Beta Galactosidosis Gangliosidosis GM1 Gangliosidosis GM1, Type 3 G(M1) Gangliosidosis Infantile Gangliosidosis GM1 Gangliosidosis Generalized GM1, Type 1 beta-Galactosidase Deficiency GM1 Gangliosidosis, Type I Gangliosidosis GM1, Juvenile Type II GM1-Gangliosidosis Gangliosidosis, Generalized GM1, Infantile Form Type I GM1-Gangliosidoses Gangliosidosis GM1, Type 2 GLB1 Deficiency Gangliosidosis G(M1) Deficiency, beta Galactosidase GM1 Gangliosidosis, Adult GM1-Gangliosidosis, Type III Adult GM1 Gangliosidosis Juvenile Gangliosidosis GM1 Gangliosidosis, Generalized GM1, Adult Type Gangliosidosis, Generalized GM1, Type II Type 3 (Adult) GM1 Gangliosidosis Deficiency, GLB1 Beta-Galactosidase-1 Deficiency Disease Type III GM1-Gangliosidosis Beta-Galactosidase-1 (GLB1) Deficiency Deficiencies, GLB1 Type III GM1-Gangliosidoses beta-Galactosidase-1 Deficiency Gangliosidosis, Adult GM1 GM1-Gangliosidosis, Type II Gangliosidosis, Generalized GM1, Type 3 Gangliosidosis GM1, Adult GM1-Gangliosidoses, Type II |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268272 C0085131 C0268271 C2718068 C0268273 |
|
| DC |
1 |
|
| definition |
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) |
|
| DX |
19920101 |
|
| FX |
D001616 |
|
| HN |
2007(1992) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999 |
|
| Mapped from | ||
| MDA |
19910621 |
|
| MMR |
20210701 |
|
| MN |
C18.452.584.563.641.803.350.360 C18.452.648.189.435.825.300.400 C18.452.648.595.554.825.300.400 C10.228.140.163.100.435.825.300.400 C16.320.565.595.554.825.300.400 C18.452.132.100.435.825.300.400 C16.320.565.398.641.803.350.360 C16.320.565.189.435.825.300.400 C18.452.648.398.641.803.350.360 |
|
| notation |
D016537 |
|
| prefLabel |
Gangliosidosis, GM1 |
|
| TERMUI |
T368301 T824559 T824561 T824565 T824563 T768388 T768384 T824566 T752845 T049483 T768387 T049484 T368305 T824499 T841536 T368307 T753624 T768385 T647099 T824496 T368304 T368306 T824560 T368302 T049485 T647100 T824562 T824564 T824497 T049482 T647102 T647101 T752855 T647098 T844041 T768386 T368303 T824498 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1992) NLM (2010) GHR (2014) NLM (2007) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |