Sandhoff disease, adult 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
Adult GM2 gangliosidosis 0 variant
Hexosaminidases A and B deficiency, adult form
Number of Symptoms 27
OrphanetNr: 309169
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:0000802) Impotence 20 / 7739
2
(HPO:0000256) Macrocephaly 298 / 7739
3
(HPO:0000280) Coarse facial features 189 / 7739
4
(HPO:0000158) Macroglossia 119 / 7739
5
(HPO:0010729) Cherry red spot of the macula 10 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0007272) Progressive psychomotor deterioration 6 / 7739
8
(HPO:0001278) Orthostatic hypotension 24 / 7739
9
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
10
(HPO:0002380) Fasciculations 42 / 7739
11
(HPO:0001347) Hyperreflexia 363 / 7739
12
(HPO:0001260) Dysarthria 329 / 7739
13
(HPO:0001433) Hepatosplenomegaly 78 / 7739
14
(HPO:0002028) Chronic diarrhea 51 / 7739
15
(HPO:0002574) Episodic abdominal pain 10 / 7739
16
(HPO:0001640) Cardiomegaly 81 / 7739
17
(HPO:0006901) Impaired thermal sensitivity 4 / 7739
18
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
19
(OMIM) Mild urinary incontinence 4 / 7739
20
(OMIM) Early blindness 6 / 7739
21
(OMIM) Impaired sweating 4 / 7739
22
(OMIM) Startle reaction 4 / 7739
23
(OMIM) Hexosaminidase B beta chain deficiency 4 / 7739
24
(MedDRA:10013578) Dizziness postural 4 / 7739
25
(OMIM) Doll-like face 4 / 7739
26
(OMIM) High lumbar gibbus 4 / 7739
27
(OMIM) Infantile muscle weakness 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 ...