GM1 gangliosidosis type 3

General Information (adopted from Orphanet):

Synonyms, Signs: GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III
GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE
Adult-onset GM1 gangliosidosis
Number of Symptoms 30
OrphanetNr: 79257
OMIM Id: 230650
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: All ages
[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:0007759) Opacification of the corneal stroma 77 / 7739
3
 (HPO:0007957) Corneal opacity 84 / 7739
4
 (HPO:0001332) Dystonia 197 / 7739
5
 (HPO:0001256) Intellectual disability, mild 141 / 7739
6
 (HPO:0001350) Slurred speech 16 / 7739
7
 (HPO:0002808) Kyphosis 289 / 7739
8
 (HPO:0002869) Flared iliac wings 20 / 7739
9
 (HPO:0002650) Scoliosis 705 / 7739
10
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
11
 (HPO:0008430) Anterior beaking of lumbar vertebrae 5 / 7739
12
 (HPO:0000926) Platyspondyly 150 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0003651) Foam cells 1 / 7739
15
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
16
 (HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
17
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0002506) Diffuse cerebral atrophy 9 / 7739
20
 (OMIM) No cherry red spots 1 / 7739
21
 (OMIM) Mild anterior beaking of lumbar vertebrae 1 / 7739
22
 (OMIM) No seizures 5 / 7739
23
 (OMIM) Cerebral atrophy, mild, diffuse 1 / 7739
24
 (OMIM) Flat femoral heads 1 / 7739
25
 (OMIM) No myoclonus 1 / 7739
26
 (OMIM) Mild platyspondyly 14 / 7739
27
 (OMIM) No splenomegaly 2 / 7739
28
 (OMIM) Normal early development 1 / 7739
29
 (OMIM) Normal facies 9 / 7739
30
 (OMIM) No hepatomegaly 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (230600). ...
Clinical Description OMIM Wenger et al. (1974) described beta-galactosidase deficiency in young adults.

Loonen et al. (1974) reported a patient with type III GM1-gangliosidosis who had angiokeratoma beginning at age 8 years, cerebellar dysfunction and diminishing vision beginning at ...
Molecular genetics OMIM In the affected sibs reported by Wenger et al. (1980), Chakraborty et al. (1994) identified compound heterozygosity for 2 mutations in the GLB1 gene (611458.0013; 611458.0022).

In 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis, ...