GM1 gangliosidosis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
Juvenile GM1 gangliosidosis
Late-infantile GM1 gangliosidosis
Number of Symptoms 23
OrphanetNr: 79256
OMIM Id: 230600
ICD-10: E75.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: GM1 gangliosidosis
 -Rare bone disease
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000271) Abnormality of the face 108 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0007281) Developmental stagnation 6 / 7739
6
 (HPO:0007272) Progressive psychomotor deterioration 6 / 7739
7
 (HPO:0002510) Spastic tetraplegia 54 / 7739
8
 (HPO:0001288) Gait disturbance 318 / 7739
9
 (HPO:0002673) Coxa valga 57 / 7739
10
 (HPO:0000926) Platyspondyly 150 / 7739
11
 (HPO:0001392) Abnormality of the liver 28 / 7739
12
 (HPO:0001743) Abnormality of the spleen 37 / 7739
13
 (HPO:0001982) Sea-blue histiocytosis 7 / 7739
14
 (HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
15
 (OMIM) Normal facies 9 / 7739
16
 (OMIM) Mild flaring of iliac wings 1 / 7739
17
 (HPO:0002059) Cerebral atrophy 171 / 7739
18
 (OMIM) Mild platyspondyly 14 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Developmental arrest, 2nd year of life 1 / 7739
21
 (OMIM) No splenomegaly 2 / 7739
22
 (HPO:0002119) Ventriculomegaly 253 / 7739
23
 (OMIM) No hepatomegaly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II ...
Clinical Description OMIM Derry et al. (1968) reported 2 sibs of French Canadian ancestry who developed normally until age 12 months when they showed psychomotor regression and loss of developmental skills. By age 2 years, they had spastic quadriplegia with extensor ...
Molecular genetics OMIM In 4 Japanese patients with the juvenile form of GM1-gangliosidosis, Nishimoto et al. (1991) identified a mutation in the GLB1 gene (R201C; 611458.0003). One patient was homozygous for the mutation; the second mutant allele could not be identified ...