MCID: SND007
MIFTS: 40

Sandhoff Disease, Infantile, Juvenile, and Adult Forms malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories

Aliases & Classifications for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Sources:
45OMIM, 10diseasecard, 30LifeMap Discovery®, 9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
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Sandhoff Disease, Infantile, Juvenile, and Adult Forms, Aliases & Descriptions:

Name: Sandhoff Disease, Infantile, Juvenile, and Adult Forms 45 10 30
Sandhoff Disease 45 30 9 63 41 20 21 42 11 43 47 22 60
Total Hexosaminidase Deficiency 41 21 60
Beta-Hexosaminidase-Beta-Subunit Deficiency 41 21
Hexosaminidase a and B Deficiency Disease 41 21
Hexosaminidases a and B Deficiency 41 47
 
Sandhoff-Jatzkewitz-Pilz Disease 41 21
Gm2 Gangliosidosis 0 Variant 41 47
Gm2 Gangliosidosis, Type 2 41 21
B Variant of the Hexosaminidase Gm2 Gangliosidosis 63
Sandhoff Jatzkewitz Disease 9
Gm2 Gangliosidosis, Type Ii 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
sandhoff disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,early childhood,late childhood


External Ids:

OMIM45 268800
Disease Ontology9 DOID:3323
NCIt38 C85052
MeSH33 D012497
SNOMED-CT55 23849003
Orphanet47 796
UMLS via Orphanet61 C0036161
MESH via Orphanet34 D012497
ICD10 via Orphanet26 E75.0

Summaries for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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NINDS:42 Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme , which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen.

MalaCards based summary: Sandhoff Disease, Infantile, Juvenile, and Adult Forms, also known as sandhoff disease, is related to gm2 gangliosidosis, 0 variant and neuronitis, and has symptoms including macrocephaly, hearing impairment and visual impairment. An important gene associated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms is HEXB (hexosaminidase B (beta polypeptide)). Affiliated tissues include brain, spinal cord and eye.

NIH Rare Diseases:41 Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. the most common and severe form of sandhoff disease becomes apparent in infancy. infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. other forms of sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. these forms are very rare. sandhoff disease is caused by mutations in the hexb gene. these mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. sandhoff disease is inherited in an autosomal recessive manner.  last updated: 10/19/2011

Genetics Home Reference:21 Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

OMIM:45 Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides,... (268800) more...

Related Diseases for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Diseases related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1gm2 gangliosidosis, 0 variant10.7
2neuronitis10.5
3gangliosidosis10.5
4tay-sachs disease10.4
5motor neuron disease10.3
6spinocerebellar degeneration10.3
7sandhoff disease, infantile form10.3
8sandhoff disease, adult form10.3
9sandhoff disease, juvenile form10.3
10bronchopulmonary dysplasia10.2
11retinitis10.2
12syndactyly10.2
13ataxia10.2
14gm1-gangliosidosis, type i10.0
15cerebellar ataxia10.0
16infertility10.0
17achalasia10.0
18central nervous system disease10.0
19diarrhea10.0
20mucopolysaccharidosis10.0
21nervous system disease10.0
22neuropathy10.0
23peripheral neuropathy10.0
24autonomic dysfunction10.0
25spasticity10.0
26endotheliitis10.0

Graphical network of the top 20 diseases related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:



Diseases related to sandhoff disease, infantile, juvenile, and adult forms

Symptoms for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Symptoms by clinical synopsis from OMIM:

268800

Clinical features from OMIM:

268800

Symptoms:

 47 (show all 21)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • macular pigmentary anomaly/cherry-red spot
  • visual loss/blindness/amblyopia
  • central deafness/hearing loss
  • kyphosis
  • motor deficit/trouble
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metabolic anomalies
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • broad cheeks/cherub-like/cherubin face
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • repeat respiratory infections
  • muscle weakness/flaccidity
  • heart/cardiac failure
  • anomalies of bones/skeletal anomalies
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia

HPO human phenotypes related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

(show all 40)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hearing impairment hallmark (90%) HP:0000365
3 visual impairment hallmark (90%) HP:0000505
4 abnormality of the macula hallmark (90%) HP:0001103
5 seizures hallmark (90%) HP:0001250
6 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
7 incoordination hallmark (90%) HP:0002311
8 kyphosis hallmark (90%) HP:0002808
9 abnormality of movement hallmark (90%) HP:0100022
10 cognitive impairment hallmark (90%) HP:0100543
11 full cheeks typical (50%) HP:0000293
12 muscle weakness typical (50%) HP:0001324
13 splenomegaly typical (50%) HP:0001744
14 recurrent respiratory infections typical (50%) HP:0002205
15 hepatomegaly typical (50%) HP:0002240
16 congestive heart failure occasional (7.5%) HP:0001635
17 skeletal dysplasia occasional (7.5%) HP:0002652
18 urinary incontinence HP:0000020
19 macroglossia HP:0000158
20 macrocephaly HP:0000256
21 coarse facial features HP:0000280
22 blindness HP:0000618
23 impotence HP:0000802
24 hypohidrosis HP:0000966
25 hyperhidrosis HP:0000975
26 ataxia HP:0001251
27 dysarthria HP:0001260
28 orthostatic hypotension HP:0001278
29 muscle weakness HP:0001324
30 hyperreflexia HP:0001347
31 hepatosplenomegaly HP:0001433
32 cardiomegaly HP:0001640
33 chronic diarrhea HP:0002028
34 fasciculations HP:0002380
35 episodic abdominal pain HP:0002574
36 amyotrophy HP:0003202
37 abnormality of glycosphingolipid metabolism HP:0004343
38 impaired thermal sensitivity HP:0006901
39 progressive psychomotor deterioration HP:0007272
40 cherry red spot of the macula HP:0010729

Drugs & Therapeutics for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Drug clinical trials:

Search ClinicalTrials for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

Search NIH Clinical Center for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Sandhoff Disease, Infantile, Juvenile, and Adult Forms:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Enriched hematopoetic stem cell for inherited metabolic disorders
Embryonic/Adult Cultured Cells Related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905
Bone marrow-derived hematopoietic stem cells (family), PMID: 22430083

Genetic Tests for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Genetic tests related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

id Genetic test Affiliating Genes
1 Sandhoff Disease20 22 HEXB

Anatomical Context for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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MalaCards organs/tissues related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

31
Brain, Spinal cord, Eye, Liver, Spleen, Bone, Heart

Animal Models for Sandhoff Disease, Infantile, Juvenile, and Adult Forms or affiliated genes

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Publications for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Variations for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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UniProtKB/Swiss-Prot genetic disease variations for Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

62
id Symbol AA change Variation ID SNP ID
1HEXBp.Ser62LeuVAR_003247rs820878
2HEXBp.Cys309TyrVAR_003250
3HEXBp.Pro417LeuVAR_003251rs28942073
4HEXBp.Tyr456SerVAR_003252
5HEXBp.Arg505GlnVAR_003253
6HEXBp.Cys534TyrVAR_003254
7HEXBp.Ser255ArgVAR_011704
8HEXBp.Pro504SerVAR_011705
9HEXBp.Ala543ThrVAR_011706

Clinvar genetic disease variations for Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

6
id Gene Variation Type Significance SNP ID Assembly Location
1HEXBnsv513799deletionPathogenic

Expression for genes affiliated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Search GEO for disease gene expression data for Sandhoff Disease, Infantile, Juvenile, and Adult Forms.

Pathways for genes affiliated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Compounds for genes affiliated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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GO Terms for genes affiliated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Products for genes affiliated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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Sources for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet