GM2G2
MCID: SND007
MIFTS: 57

Sandhoff Disease, Infantile, Juvenile, and Adult Forms (GM2G2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

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

Aliases & Descriptions for Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

Name: Sandhoff Disease, Infantile, Juvenile, and Adult Forms 54 13 38
Sandhoff Disease 54 38 12 71 50 24 25 51 56 66 29 52 42 14 69
Total Hexosaminidase Deficiency 50 25 69
Beta-Hexosaminidase-Beta-Subunit Deficiency 50 25
Hexosaminidase a and B Deficiency Disease 50 25
Sandhoff-Jatzkewitz-Pilz Disease 50 25
Gm2 Gangliosidosis, Type 2 50 25
B Variant of the Hexosaminidase Gm2 Gangliosidosis 71
Hexosaminidases a and B Deficiency, Infantile Form 56
Hexosaminidases a and B Deficiency, Juvenile Form 56
Hexosaminidases a and B Deficiency, Adult Form 56
Infantile Gm2 Gangliosidosis 0 Variant 56
Juvenile Gm2 Gangliosidosis 0 Variant 56
Hexosaminidases a and B Deficiency 56
Adult Gm2 Gangliosidosis 0 Variant 56
Hexosaminidase a and B Deficiency 66
Sandhoff Disease, Infantile Form 56
Sandhoff Disease, Juvenile Form 56
Gm2 Gangliosidosis 0 Variant 56
Sandhoff Disease, Adult Form 56
Sandhoff Jatzkewitz Disease 12
Gm2 Gangliosidosis, Type Ii 25
Gm2-Gangliosidosis 2 66
Gangliosidoses, Gm2 69
Gm2 Gangliosidosis 24
Gm2g2 66
Sd 66

Characteristics:

Orphanet epidemiological data:

56
sandhoff disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Portugal),1-9/1000000 (Netherlands),1-9/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Turkey),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,early childhood,late childhood;

Classifications:



External Ids:

OMIM 54 268800
Disease Ontology 12 DOID:3323
ICD10 33 E75.01
MeSH 42 D012497
NCIt 47 C85052
SNOMED-CT 64 23849003
ICD10 via Orphanet 34 E75.0
UMLS via Orphanet 70 C0036161 C0751490 C0751489 more
MESH via Orphanet 43 D012497
UMLS 69 C0036161

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

NINDS : 51 Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord.  It is caused by a deficiency of the enzyme , which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle.  Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child.  Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.

MalaCards based summary : Sandhoff Disease, Infantile, Juvenile, and Adult Forms, also known as sandhoff disease, is related to gm2 gangliosidosis, 0 variant and hemoglobin sd, and has symptoms including ataxia, seizures and muscle weakness. An important gene associated with Sandhoff Disease, Infantile, Juvenile, and Adult Forms is HEXB (Hexosaminidase Subunit Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Keratan sulfate/keratin metabolism. The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are craniofacial and liver/biliary system

Genetics Home Reference : 25 Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH Rare Diseases : 50 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

OMIM : 54 Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides,... (268800) more...

UniProtKB/Swiss-Prot : 66 GM2-gangliosidosis 2: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.

Wikipedia : 71 Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or... more...

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

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 gm2 gangliosidosis, 0 variant 12.4
2 hemoglobin sd 12.0
3 shwachman-diamond syndrome 11.7
4 salla disease 11.4
5 tay-sachs disease 11.2
6 trichohepatoenteric syndrome 1 11.0
7 semantic dementia 11.0
8 sydenham chorea 11.0
9 rheumatic encephalitis 11.0
10 gm1-gangliosidosis, type i 10.8
11 microcephaly 1, primary, autosomal recessive 10.8
12 macrocephaly/autism syndrome 10.8
13 desbuquois dysplasia 1 10.8
14 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
15 multiple system atrophy 10.8
16 microcephaly 10, primary, autosomal recessive 10.7
17 short stature, idiopathic familial 10.7
18 macular dystrophy, vitelliform, 4 10.7
19 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
20 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
21 short stature with nonspecific skeletal abnormalities 10.7
22 acid-labile subunit, deficiency of 10.7
23 lissencephaly 4 10.7
24 microcephaly 5, primary, autosomal recessive 10.7
25 desbuquois dysplasia 2 10.7
26 nanophthalmos 4 10.7
27 macular dystrophy, vitelliform, 5 10.7
28 neuronitis 10.2
29 mannosidosis 10.1 HEXA HEXB
30 motor neuron disease 10.0
31 tinea favosa 10.0 HEXA NPC1
32 posterior uveal melanoma 9.9 HEXA NPC1
33 mononeuritis of lower limb 9.9 HEXA HEXB NPC1
34 ataxia 9.8
35 bronchopulmonary dysplasia 9.8
36 syndactyly 9.8
37 retinitis 9.8
38 achalasia 9.7
39 autonomic dysfunction 9.7
40 spasticity 9.7
41 phenylketonuria 9.7
42 mucopolysaccharidosis 9.7
43 endotheliitis 9.7
44 diarrhea 9.7
45 central nervous system disease 9.7
46 infertility 9.7
47 nervous system disease 9.7
48 cerebellar ataxia 9.7
49 neuropathy 9.7
50 dysostosis 9.3 HEXA HEXB HHEX MGEA5 NPC1

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 & Phenotypes for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

Symptoms by clinical synopsis from OMIM:

268800

Clinical features from OMIM:

268800

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

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 muscle weakness 56 32 Frequent (79-30%) HP:0001324
4 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
5 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
6 kyphosis 56 32 Very frequent (99-80%) HP:0002808
7 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
8 splenomegaly 56 32 Frequent (79-30%) HP:0001744
9 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
10 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
11 skeletal dysplasia 56 32 Occasional (29-5%) HP:0002652
12 blindness 56 32 Very frequent (99-80%) HP:0000618
13 cherry red spot of the macula 56 32 Very frequent (99-80%) HP:0010729
14 full cheeks 56 32 Frequent (79-30%) HP:0000293
15 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
16 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
17 motor deterioration 56 32 Very frequent (99-80%) HP:0002333
18 abnormality of glycosphingolipid metabolism 56 32 Very frequent (99-80%) HP:0004343
19 progressive psychomotor deterioration 56 32 Very frequent (99-80%) HP:0007272
20 hepatosplenomegaly 32 HP:0001433
21 hyperhidrosis 32 HP:0000975
22 dysarthria 32 HP:0001260
23 hyperreflexia 32 HP:0001347
24 macroglossia 32 HP:0000158
25 coarse facial features 32 HP:0000280
26 cardiomegaly 32 HP:0001640
27 skeletal muscle atrophy 32 HP:0003202
28 hypohidrosis 32 HP:0000966
29 episodic abdominal pain 32 HP:0002574
30 fasciculations 32 HP:0002380
31 chronic diarrhea 32 HP:0002028
32 impotence 32 HP:0000802
33 orthostatic hypotension 32 HP:0001278
34 urinary incontinence 32 HP:0000020
35 impaired thermal sensitivity 32 HP:0006901

MGI Mouse Phenotypes related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 HEXA HEXB HHEX NPC1
2 liver/biliary system MP:0005370 8.92 HEXA HEXB HHEX NPC1

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

Drugs for Sandhoff Disease, Infantile, Juvenile, and Adult Forms (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2
4 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
5 Anti-HIV Agents Phase 4,Phase 3,Phase 2
6 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
8 Antiviral Agents Phase 4,Phase 3,Phase 2
9 Cardiac Glycosides Phase 4,Phase 3,Phase 2
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14 Prednisolone acetate Phase 2, Phase 3
15 Alkylating Agents Phase 2, Phase 3
16 Prednisolone hemisuccinate Phase 2, Phase 3
17 Prednisolone phosphate Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Antilymphocyte Serum Phase 2, Phase 3
20 Methylprednisolone acetate Phase 2, Phase 3
21 Methylprednisolone Hemisuccinate Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3
23 Antineoplastic Agents, Alkylating Phase 2, Phase 3
24
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
25
Melphalan Approved Phase 2 148-82-3 4053 460612
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
30
Pyrimethamine Approved, Vet_approved Phase 1, Phase 2 58-14-0 4993
31
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
32
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 54575, 6560146 143
33 tannic acid Approved, Nutraceutical Phase 2
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
35 Folic Acid Antagonists Phase 1, Phase 2
36 Nucleic Acid Synthesis Inhibitors Phase 2
37 Dermatologic Agents Phase 2
38 Vitamin B Complex Phase 1, Phase 2
39 Antifungal Agents Phase 2
40 Antimalarials Phase 1, Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Calcineurin Inhibitors Phase 2
44 Antiparasitic Agents Phase 1, Phase 2
45 Antiprotozoal Agents Phase 1, Phase 2
46 Folate Nutraceutical Phase 1, Phase 2
47 Vitamin B9 Nutraceutical Phase 1, Phase 2
48
Mycophenolic acid Approved 24280-93-1 446541
49
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
50 Anti-Bacterial Agents

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
4 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
5 Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
7 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis Completed NCT00418847 Phase 2
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
10 A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis Withdrawn NCT00679744 Phase 1
11 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
12 Gene Therapy for Tay-Sachs Disease Completed NCT01869270
13 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
14 A Natural History Study of the Gangliosidoses Recruiting NCT00668187
15 A Natural History of Late Onset Tay-Sachs Disease Recruiting NCT02851862
16 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
17 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647

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) PMIDs: 10430905
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22430083

Cochrane evidence based reviews: sandhoff disease

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

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

id Genetic test Affiliating Genes
1 Sandhoff Disease 29 24 HEXB

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

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

39
Brain, Spinal Cord, Eye, Liver, Spleen, Bone, Skeletal Muscle

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 HEXB p.Ser62Leu VAR_003247 rs820878
2 HEXB p.Cys309Tyr VAR_003250
3 HEXB p.Pro417Leu VAR_003251 rs28942073
4 HEXB p.Tyr456Ser VAR_003252
5 HEXB p.Arg505Gln VAR_003253
6 HEXB p.Cys534Tyr VAR_003254
7 HEXB p.Ser255Arg VAR_011704
8 HEXB p.Pro504Ser VAR_011705
9 HEXB p.Ala543Thr VAR_011706

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

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 HEXB nsv513799 deletion Pathogenic
2 HEXB NM_000521.3(HEXB): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28942073 GRCh37 Chromosome 5, 74014629: 74014629
3 HEXB HEXB, IVS8, G-C, +5 single nucleotide variant Pathogenic
4 HEXB HEXB, 1-BP DEL, 76A deletion Pathogenic
5 HEXB NM_000521.3(HEXB): c.850C> T (p.Arg284Ter) single nucleotide variant Pathogenic rs121907986 GRCh37 Chromosome 5, 74009409: 74009409
6 HEXB HEXB, 1-BP DEL, 965T deletion Pathogenic
7 HEXB NM_000521.3(HEXB): c.115delG (p.Val39Trpfs) deletion Pathogenic rs398123443 GRCh37 Chromosome 5, 73981200: 73981200
8 HEXB NM_000521.3(HEXB): c.1238_1242delCAAAG (p.Lys414Cysfs) deletion Pathogenic rs398123445 GRCh37 Chromosome 5, 74014184: 74014188
9 HEXB NM_000521.3(HEXB): c.1243-2A> G single nucleotide variant Pathogenic rs398123446 GRCh37 Chromosome 5, 74014620: 74014620
10 HEXB NM_000521.3(HEXB): c.1375G> T (p.Asp459Tyr) single nucleotide variant Likely pathogenic rs398123447 GRCh37 Chromosome 5, 74014754: 74014754
11 HEXB NM_000521.3(HEXB): c.797A> G (p.Tyr266Cys) single nucleotide variant Likely pathogenic rs398123450 GRCh37 Chromosome 5, 74009356: 74009356
12 HEXB NM_000521.3(HEXB): c.1478T> G (p.Val493Gly) single nucleotide variant Likely pathogenic rs794727049 GRCh37 Chromosome 5, 74016313: 74016313
13 HEXB NM_000521.3(HEXB): c.1517_1529dupCAAGTGCTGTTGG (p.Glu511Lysfs) duplication Pathogenic rs797044644 GRCh37 Chromosome 5, 74016476: 74016488
14 HEXB NM_000521.3(HEXB): c.1535_1536delGA (p.Arg512Thrfs) deletion Pathogenic rs794727091 GRCh37 Chromosome 5, 74016494: 74016495
15 HEXB NM_000521.3(HEXB): c.1023_1026delTGAG (p.Ser341Argfs) deletion Pathogenic rs886042067 GRCh37 Chromosome 5, 74011456: 74011459
16 HEXB NM_000521.3(HEXB): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs753823903 GRCh37 Chromosome 5, 73989526: 73989526
17 HEXB NM_000521.3(HEXB): c.1082+5G> A single nucleotide variant Likely pathogenic rs5030731 GRCh38 Chromosome 5, 74715695: 74715695
18 HEXB NM_000521.3(HEXB): c.299G> C (p.Arg100Pro) single nucleotide variant Pathogenic rs1060499701 GRCh37 Chromosome 5, 73981384: 73981384

Copy number variations for Sandhoff Disease, Infantile, Juvenile, and Adult Forms from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 201871 5 73971603 74052869 Deletion HEXB Sandhoff disease

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

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

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

GO Terms for Sandhoff Disease, Infantile, Juvenile, and Adult Forms

Cellular components related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 ETFA GM2A HEXA HEXB NPC1
2 azurophil granule lumen GO:0035578 9.26 GM2A HEXB
3 azurophil granule GO:0042582 9.16 HEXA HEXB
4 lysosomal lumen GO:0043202 9.13 GM2A HEXA HEXB
5 lysosome GO:0005764 8.92 GM2A HEXA HEXB NPC1

Biological processes related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 HEXA HEXB MGEA5
2 lipid transport GO:0006869 9.48 GM2A NPC1
3 neuromuscular process controlling balance GO:0050885 9.43 GM2A HEXB
4 lipid storage GO:0019915 9.4 GM2A HEXB
5 hyaluronan catabolic process GO:0030214 9.37 HEXA HEXB
6 chondroitin sulfate catabolic process GO:0030207 9.32 HEXA HEXB
7 keratan sulfate catabolic process GO:0042340 9.26 HEXA HEXB
8 oligosaccharide catabolic process GO:0009313 9.16 GM2A HEXB
9 ganglioside catabolic process GO:0006689 8.96 GM2A HEXB
10 glycosphingolipid metabolic process GO:0006687 8.8 GM2A HEXA HEXB

Molecular functions related to Sandhoff Disease, Infantile, Juvenile, and Adult Forms according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.26 HEXA HEXB
2 lipid transporter activity GO:0005319 9.16 GM2A NPC1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 HEXA HEXB MGEA5
4 beta-N-acetylhexosaminidase activity GO:0004563 8.8 GM2A HEXA HEXB

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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