GM1 gangliosidosis

General Information (adopted from Orphanet):

Synonyms, Signs: Beta-galactosidase-1 deficiency
Landing disease
GLB1 deficiency
Number of Symptoms 72
OrphanetNr: 354
OMIM Id: 230500
230600
230650
ICD-10: E75.1
UMLs: C0085131
MeSH: D016537
MedDRA:
Snomed: 238025006
32917001

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: Gangliosidosis
 -Rare genetic disease
 -Rare neurologic disease
Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Metabolic disease with macular cherry-red spot
 -Rare eye disease
 -Rare genetic disease
Nervous system anomaly with eye involvement
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system 88 / 7739
2
 (HPO:0000045) Abnormality of the scrotum Occasional [Orphanet] 14 / 7739
3
 (HPO:0000212) Gingival overgrowth 43 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
6
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
7
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
8
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
9
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
10
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
11
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
12
 (HPO:0000470) Short neck 345 / 7739
13
 (HPO:0000316) Hypertelorism 644 / 7739
14
 (HPO:0008002) Abnormality of macular pigmentation Occasional [Orphanet] 20 / 7739
15
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
16
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
17
 (HPO:0010729) Cherry red spot of the macula typical [HPO:skoehler] 10 / 7739
18
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
19
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
20
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
21
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
22
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
23
 (HPO:0002383) Encephalitis Very frequent [Orphanet] 41 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
26
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
27
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
28
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
29
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
30
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
31
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
32
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
33
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
34
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
35
 (HPO:0002808) Kyphosis 289 / 7739
36
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
37
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
38
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
39
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
40
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
41
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
42
 (HPO:0000900) Thickened ribs 9 / 7739
43
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
44
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
45
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
46
 (HPO:0000023) Inguinal hernia 181 / 7739
47
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
48
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
49
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
50
 (HPO:0002240) Hepatomegaly 467 / 7739
51
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
52
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
53
 (HPO:0003510) Severe short stature 90 / 7739
54
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
55
 (HPO:0000998) Hypertrichosis 52 / 7739
56
 (HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
57
 (HPO:0001071) Angiokeratoma corporis diffusum 7 / 7739
58
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
59
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
60
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
61
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
62
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
63
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
64
 (HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
65
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
66
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
67
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
68
 (HPO:0001522) Death in infancy 275 / 7739
69
 (HPO:0007313) Cerebral degeneration 4 / 7739
70
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
71
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
72
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: