GM1 gangliosidosis type 1

General Information (adopted from Orphanet):

Synonyms, Signs: GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM
BETA-GALACTOSIDASE-1 DEFICIENCY
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
Norman-Landing disease
Infantile GM1 gangliosidosis
Number of Symptoms 31
OrphanetNr: 79255
OMIM Id: 230500
ICD-10: E75.1
UMLs:
MeSH:
MedDRA:
Snomed: 238026007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000212) Gingival overgrowth 43 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000457) Depressed nasal ridge 85 / 7739
5
 (HPO:0000280) Coarse facial features 189 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001387) Joint stiffness 322 / 7739
8
 (HPO:0002808) Kyphosis 289 / 7739
9
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
10
 (HPO:0002650) Scoliosis 705 / 7739
11
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
12
 (HPO:0000900) Thickened ribs 9 / 7739
13
 (HPO:0000023) Inguinal hernia 181 / 7739
14
 (HPO:0002240) Hepatomegaly 467 / 7739
15
 (HPO:0001744) Splenomegaly 337 / 7739
16
 (HPO:0003510) Severe short stature 90 / 7739
17
 (HPO:0000998) Hypertrichosis 52 / 7739
18
 (HPO:0001071) Angiokeratoma corporis diffusum 7 / 7739
19
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
20
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
21
 (HPO:0001635) Congestive heart failure 232 / 7739
22
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
23
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
24
 (HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
25
 (HPO:0007313) Cerebral degeneration 4 / 7739
26
 (OMIM) Clear cornea 6 / 7739
27
 (OMIM) No mucopolysacchariduria 4 / 7739
28
 (OMIM) Glomerular epithelial cytoplasmic vacuolization 1 / 7739
29
 (OMIM) Full forehead 2 / 7739
30
 (OMIM) Cherry-red spot in half the patients 1 / 7739
31
 (OMIM) Dermal melanocytosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual ...
Clinical Description OMIM Landing et al. (1964) gave the first definitive description of this entity, which had variously been called 'Hurler variant,' 'pseudo-Hurler disease,' and 'Tay-Sachs disease with visceral involvement.' O'Brien et al. (1965) suggested the designation 'generalized gangliosidosis.' Clinical features ...
Genotype-Phenotype Correlations OMIM Hinek et al. (2000) performed expression studies on 2 nonsense GLB1 mutations resulting in GM1-gangliosidosis with cardiac involvement (see, e.g., R351X; 611458.0019). Both mutations resulted in impairment of the lysosomal and EBP protein regions and showed no EBP ...
Molecular genetics OMIM Yoshida et al. (1991) and Nishimoto et al. (1991) independently identified mutations in the GLB1 gene in Japanese patients with various forms of GM1 gangliosidosis. Those with the infantile form had specific mutations (611458.0001; 611458.0002; 611458.0005-611458.0007). Residual enzyme ...