Sandhoff disease, infantile form

General Information (adopted from Orphanet):

Synonyms, Signs: HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED
GM2-GANGLIOSIDOSIS, TYPE II
SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED
SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED
Hexosaminidases A and B deficiency, infantile form
Infantile GM2 gangliosidosis 0 variant
Number of Symptoms 33
OrphanetNr: 309155
OMIM Id: 268800
ICD-10: E75.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Sandhoff disease
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0000802) Impotence 20 / 7739
3
 (HPO:0000280) Coarse facial features 189 / 7739
4
 (HPO:0000256) Macrocephaly 298 / 7739
5
 (HPO:0000158) Macroglossia 119 / 7739
6
 (HPO:0000618) Blindness 124 / 7739
7
 (HPO:0010729) Cherry red spot of the macula 10 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0002380) Fasciculations 42 / 7739
10
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0007272) Progressive psychomotor deterioration 6 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001278) Orthostatic hypotension 24 / 7739
15
 (HPO:0002574) Episodic abdominal pain 10 / 7739
16
 (HPO:0002028) Chronic diarrhea 51 / 7739
17
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
18
 (HPO:0000966) Hypohidrosis 41 / 7739
19
 (HPO:0000975) Hyperhidrosis 64 / 7739
20
 (HPO:0001640) Cardiomegaly 81 / 7739
21
 (HPO:0006901) Impaired thermal sensitivity 4 / 7739
22
 (HPO:0004343) Abnormality of glycosphingolipid metabolism 3 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
25
 (OMIM) Hexosaminidase B beta chain deficiency 4 / 7739
26
 (OMIM) Doll-like face 4 / 7739
27
 (OMIM) Impaired sweating 4 / 7739
28
 (OMIM) Infantile muscle weakness 4 / 7739
29
 (OMIM) High lumbar gibbus 4 / 7739
30
 (OMIM) Early blindness 6 / 7739
31
 (MedDRA:10013578) Dizziness postural 4 / 7739
32
 (OMIM) Startle reaction 4 / 7739
33
 (OMIM) Mild urinary incontinence 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800).
Diagnosis OMIM Lowden et al. (1978) described Sandhoff disease in a Metis kindred of northern Saskatchewan and discussed carrier detection. Chamoles et al. (2002) described methods for enzymatic detection of Tay-Sachs and Sandhoff disease in newborns using dried blood spots ...
Clinical Description OMIM Sandhoff et al. (1968) gave the initial description of the disorder that bears his name. O'Brien (1971) studied 2 Mexican-American sisters and a boy of Anglo-Saxon extraction. Most patients have been non-Jewish; however, the clinical and pathologic picture ...
Molecular genetics OMIM O'Dowd et al. (1986) concluded that the primary gene defect in the majority of Sandhoff cases is in the HEXB gene itself. They studied 5 juvenile cell lines, all of which were found to have normal or reduced ...
Population genetics OMIM Cantor and Kaback (1985) stated that the gene frequency for Sandhoff disease was about 1/1000 in Jews and 1/600 in non-Jews.

Drousiotou et al. (2000) noted that in the previous 15 years, 4 patients with the ...