GM2G2
MCID: SND001
MIFTS: 68

Sandhoff Disease (GM2G2)

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

Aliases & Classifications for Sandhoff Disease

MalaCards integrated aliases for Sandhoff Disease:

Name: Sandhoff Disease 56 12 74 52 25 53 58 73 36 29 54 6 43 15 37 39 71
Total Hexosaminidase Deficiency 52 25 71
Sandhoff Disease, Infantile, Juvenile, and Adult Forms 56 13
Beta-Hexosaminidase-Beta-Subunit Deficiency 52 25
Hexosaminidase a and B Deficiency Disease 52 25
Hexosaminidases a and B Deficiency 56 58
Sandhoff-Jatzkewitz-Pilz Disease 52 25
Gm2 Gangliosidosis, Type 2 52 25
Sd 73 17
Hexosaminidases a and B Deficiency, Infantile Form 58
Hexosaminidases a and B Deficiency, Juvenile Form 58
Hexosaminidases a and B Deficiency, Adult Form 58
Infantile Gm2 Gangliosidosis 0 Variant 58
Juvenile Gm2 Gangliosidosis 0 Variant 58
Adult Gm2 Gangliosidosis 0 Variant 58
Hexosaminidase a and B Deficiency 73
Sandhoff Disease, Infantile Form 58
Sandhoff Disease, Juvenile Form 58
Gm2 Gangliosidosis 0 Variant 58
Sandhoff Disease, Adult Form 58
Gm2-Gangliosidosis, Type Ii 56
Sandhoff Jatzkewitz Disease 12
Gm2 Gangliosidosis, Type Ii 25
Gm2-Gangliosidosis 2 73
Gm2g2 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive with multiple alleles and compounds


HPO:

31
sandhoff disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Sandhoff Disease

Genetics Home Reference : 25 Sandhoff disease is a rare inherited 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. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have enlarged organs (organomegaly) or bone abnormalities. Children with the severe infantile form of Sandhoff disease usually live only into early childhood. Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease.

MalaCards based summary : Sandhoff Disease, also known as total hexosaminidase deficiency, is related to gm2-gangliosidosis, ab variant and gm1-gangliosidosis, type i. An important gene associated with Sandhoff Disease is HEXB (Hexosaminidase Subunit Beta), and among its related pathways/superpathways are Glycosaminoglycan degradation and Other glycan degradation. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are hearing impairment and kyphosis

Disease Ontology : 12 A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has material basis in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.

NIH Rare Diseases : 52 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.

OMIM : 56 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). (268800)

NINDS : 53 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 beta-hexosaminidase, 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. 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. Onset of the disorder usually occurs at 6 months of age. 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), myoclonus (shock-like contractions of a muscle, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and enlarged liver and spleen.

KEGG : 36 Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency of hexosaminidase A (HexA) and hexosaminidase B (HexB) activities. GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. The severe form is characterized by an early age of onset and a rapidly progressive clinical course leading to death in early childhood, whereas the juvenile and adult forms start later and generally manifest a less severe course.

UniProtKB/Swiss-Prot : 73 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 : 74 Sandhoff disease, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to... more...

Related Diseases for Sandhoff Disease

Diseases related to Sandhoff Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 659)
# Related Disease Score Top Affiliating Genes
1 gm2-gangliosidosis, ab variant 31.8 OGA HEXB HEXA GM2A GLB1
2 gm1-gangliosidosis, type i 31.3 PSAP HEXA GLB1 GLA ARSA
3 gangliosidosis 30.4 UGCG PSAP HEXB HEXA GM2A GLB1
4 inherited metabolic disorder 29.7 NPC2 NPC1 GLA
5 fabry disease 29.6 UGCG PSAP GLA ARSA
6 gaucher's disease 29.4 UGCG PSAP GBA2 CCL3 ARSA
7 farber lipogranulomatosis 29.3 UGCG SMPD1 PSAP GM2A ASAH1
8 scheie syndrome 29.2 NPC2 IGF2R GLB1 GLA ARSA
9 gaucher disease, type i 28.8 UGCG SMPD1 PSAP HEXA GLA GBA2
10 tay-sachs disease 28.1 UGCG SMPD1 PSAP OGA NPC2 NPC1
11 gm1 gangliosidosis 28.1 UGCG PSAP OGA NPC2 NPC1 GM2A
12 lysosomal storage disease 28.0 SMPD1 PSAP NPC2 NPC1 IGF2R HEXB
13 mucopolysaccharidosis-plus syndrome 27.7 SMPD1 OGA NPC2 NPC1 IGF2R HEXB
14 gm2 gangliosidosis 26.4 UGCG SMPD1 PSAP OGA NPC2 NPC1
15 sphingolipidosis 25.3 UGCG SMPD1 PSAP OGA NPC2 NPC1
16 gm2 gangliosidosis, 0 variant 12.9
17 shwachman-diamond syndrome 1 12.3
18 trichohepatoenteric syndrome 1 12.0
19 salla disease 11.9
20 semantic dementia 11.7
21 seborrheic dermatitis 11.7
22 microcephaly 11.4
23 generalized gangliosidoses 11.4
24 multiple system atrophy 1 11.2
25 sickle cell - hemoglobin d disease 11.2
26 microcephaly 1, primary, autosomal recessive 11.2
27 desbuquois dysplasia 1 11.2
28 sialuria 11.2
29 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
30 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.2
31 macrocephaly/autism syndrome 11.2
32 microcephaly, autosomal dominant 11.1
33 isolated growth hormone deficiency, type ia 11.1
34 short stature, idiopathic, x-linked 11.1
35 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.1
36 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.1
37 microcephaly 5, primary, autosomal recessive 11.1
38 isolated growth hormone deficiency, type ib 11.1
39 lissencephaly 4 11.1
40 microcephaly 10, primary, autosomal recessive 11.1
41 desbuquois dysplasia 2 11.1
42 acid-labile subunit deficiency 11.1
43 nanophthalmos 4 11.1
44 macular dystrophy, vitelliform, 4 11.1
45 macular dystrophy, vitelliform, 5 11.1
46 short stature with nonspecific skeletal abnormalities 11.1
47 microcephaly 17, primary, autosomal recessive 11.1
48 leukodystrophy, hypomyelinating, 17 11.1
49 isolated growth hormone deficiency, type iv 11.1
50 ataxia and polyneuropathy, adult-onset 10.5

Graphical network of the top 20 diseases related to Sandhoff Disease:



Diseases related to Sandhoff Disease

Symptoms & Phenotypes for Sandhoff Disease

Human phenotypes related to Sandhoff Disease:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
3 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
4 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
5 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
7 cherry red spot of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010729
8 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
9 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
10 abnormality of glycosphingolipid metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004343
11 progressive psychomotor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007272
12 seizure 31 hallmark (90%) HP:0001250
13 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
14 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
15 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
16 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
17 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
18 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
19 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
20 macroglossia 31 HP:0000158
21 coarse facial features 31 HP:0000280
22 seizures 58 Very frequent (99-80%)
23 hyperhidrosis 31 HP:0000975
24 cardiomegaly 31 HP:0001640
25 skeletal muscle atrophy 31 HP:0003202
26 hyperreflexia 31 HP:0001347
27 hypohidrosis 31 HP:0000966
28 dysarthria 31 HP:0001260
29 fasciculations 31 HP:0002380
30 chronic diarrhea 31 HP:0002028
31 upper motor neuron dysfunction 31 HP:0002493
32 impotence 31 HP:0000802
33 orthostatic hypotension 31 HP:0001278
34 hepatosplenomegaly 31 HP:0001433
35 urinary incontinence 31 HP:0000020
36 episodic abdominal pain 31 HP:0002574
37 impaired thermal sensitivity 31 HP:0006901

Symptoms via clinical synopsis from OMIM:

56
Tongue:
macroglossia

Cardiac:
cardiomegaly

G I:
chronic diarrhea
hepatosplenomegaly
episodic abdominal pain

Facies:
coarse facies
doll-like face

Eyes:
early blindness
cherry red spots

Skin:
impaired sweating

Lab:
hexosaminidase b beta chain deficiency

Cranium:
macrocephaly

Neuro:
hyperreflexia
dysarthria
fasciculations
orthostatic hypotension
impaired thermal sensitivity
more
G U:
impotence
mild urinary incontinence

Muscle:
muscle wasting
infantile muscle weakness

Skel:
high lumbar gibbus

Misc:
lethal usually by age 3 years
intolerance to heat

Clinical features from OMIM:

268800

GenomeRNAi Phenotypes related to Sandhoff Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.6 ASAH1 GBA2
2 Decreased viability GR00249-S 9.6 CTSA ETFA GLA HEXA HEXB IGF2R
3 Decreased viability GR00381-A-1 9.6 ASAH1 GBA2 GLA SMPD1 UGCG
4 Decreased viability GR00386-A-1 9.6 ASAH1 CCL3 GBA2 HEXA
5 Decreased viability GR00402-S-2 9.6 ARSA GLB1

MGI Mouse Phenotypes related to Sandhoff Disease:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ARSA ASAH1 CTSA GLA GLB1 GM2A
2 cellular MP:0005384 10.34 ASAH1 CTSA GBA2 GLA GLB1 HEXB
3 growth/size/body region MP:0005378 10.32 ASAH1 CTSA GLA GLB1 HEXA HEXB
4 homeostasis/metabolism MP:0005376 10.31 ARSA ASAH1 CTSA GBA2 GLA GLB1
5 hematopoietic system MP:0005397 10.2 ARSA ASAH1 CTSA GLB1 HEXB HHEX
6 mortality/aging MP:0010768 10.17 ASAH1 CTSA GLA GLB1 HEXA HEXB
7 liver/biliary system MP:0005370 10.15 ASAH1 CTSA GLA GLB1 HEXA HEXB
8 immune system MP:0005387 10.14 ARSA ASAH1 CTSA GLA GLB1 HEXB
9 nervous system MP:0003631 10.1 ARSA ASAH1 GLA GLB1 GM2A HEXA
10 renal/urinary system MP:0005367 9.81 ASAH1 CTSA GLA GLB1 HEXA HEXB
11 reproductive system MP:0005389 9.65 ASAH1 CTSA GBA2 GLB1 HEXA HEXB
12 respiratory system MP:0005388 9.28 ASAH1 CTSA HHEX IGF2R NPC1 NPC2

Drugs & Therapeutics for Sandhoff Disease

Drugs for Sandhoff Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Anti-HIV Agents Phase 4
3 Cardiac Glycosides Phase 4
4 Antiviral Agents Phase 4
5 Hypoglycemic Agents Phase 4
6 Glycoside Hydrolase Inhibitors Phase 4
7 Anti-Retroviral Agents Phase 4
8
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
9
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
12
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
13 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
16 Immunologic Factors Phase 2, Phase 3
17 Methylprednisolone Acetate Phase 2, Phase 3
18 Immunosuppressive Agents Phase 2, Phase 3
19 Alkylating Agents Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Antilymphocyte Serum Phase 2, Phase 3
22 Anti-Infective Agents Phase 3
23
tannic acid Approved Phase 2 1401-55-4
24
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
25
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
26
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
27
Melphalan Approved Phase 2 148-82-3 460612 4053
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
30
Hydroxyurea Approved Phase 2 127-07-1 3657
31 Micronutrients Phase 1, Phase 2
32 Trace Elements Phase 1, Phase 2
33 Vitamins Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Nutrients Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Antineoplastic Agents, Immunological Phase 2
38 Antifungal Agents Phase 2
39 Dermatologic Agents Phase 2
40 Cyclosporins Phase 2
41 Calcineurin Inhibitors Phase 2
42 Antimetabolites Phase 2
43
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
44
Mycophenolic acid Approved 24280-93-1 446541
45 Antitubercular Agents
46 Anti-Bacterial Agents
47 Antibiotics, Antitubercular
48 polysaccharide-K

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
2 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway Recruiting NCT04221451 Phase 3 venglustat GZ402671;placebo
5 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
6 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
7 Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) Completed NCT01102686 Phase 1, Phase 2 Pyrimethamine;Leucovorin
8 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
9 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
10 Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759665 Phase 2 IB1001
11 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
12 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
13 A Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants) Withdrawn NCT00679744 Phase 1 Pyrimethamine
14 A Natural History Study of the Gangliosidoses Completed NCT00668187
15 Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) Completed NCT01869270
16 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
17 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
18 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
19 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
20 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
21 A Natural History of Late Onset Tay-Sachs Disease: MGH Site Active, not recruiting NCT02851862

Search NIH Clinical Center for Sandhoff Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sandhoff Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: sandhoff disease

Genetic Tests for Sandhoff Disease

Genetic tests related to Sandhoff Disease:

# Genetic test Affiliating Genes
1 Sandhoff Disease 29 HEXB

Anatomical Context for Sandhoff Disease

MalaCards organs/tissues related to Sandhoff Disease:

40
Brain, Spinal Cord, Eye, Bone, Liver, Spleen, Bone Marrow

Publications for Sandhoff Disease

Articles related to Sandhoff Disease:

(show top 50) (show all 427)
# Title Authors PMID Year
1
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme. 61 56 6
8357844 1993
2
Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. 6 61 56
10724 1976
3
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency. 6 56
2973515 1988
4
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. 6 56
2948136 1987
5
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study. 6 56
3014997 1986
6
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. 56 6
571983 1979
7
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. 54 61 56
18758829 2009
8
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. 56 54 61
14722612 2004
9
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. 54 6 61
9694901 1998
10
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. 61 54 56
8896570 1996
11
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection. 56 54 61
8076944 1994
12
Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease. 56 54 61
1390948 1992
13
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. 54 61 6
2147027 1990
14
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain. 54 6 61
1975561 1990
15
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. 6 54
17251047 2007
16
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. 61 56
12019216 2002
17
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. 56 61
11880123 2002
18
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community. 56 61
10982028 2000
19
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. 56 61
10339597 1999
20
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. 61 56
9302266 1997
21
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. 54 56
8789434 1996
22
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 61 6
7557963 1995
23
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. 6 61
7633435 1995
24
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. 61 6
8106452 1994
25
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease. 61 6
1487253 1992
26
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. 6 61
1386607 1992
27
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. 61 6
1531140 1992
28
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. 61 6
2170400 1990
29
Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. 61 6
2522450 1989
30
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis. 61 6
2921040 1989
31
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). 56 61
3017984 1986
32
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. 61 56
7468596 1981
33
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease. 61 56
104655 1978
34
Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion. 61 56
417993 1978
35
Carrier detection in Sandhoff disease. 61 56
414620 1978
36
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. 61 56
559267 1977
37
Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay. 56 61
4758879 1973
38
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. 56
15956171 2005
39
A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. 56
10021458 1999
40
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. 56
9103204 1997
41
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. 56
7550345 1995
42
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. 6
1720305 1991
43
Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase. 56
2525553 1989
44
Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. 56
4040927 1985
45
Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patient. 56
6243915 1980
46
Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions. 56
747190 1978
47
Evidence for localization of the gene for hexosaminidase B to the cen leads to q13 region of human chromosome 5 using mouse x human hybrid cells. 56
752513 1978
48
Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells. 56
62363 1976
49
Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. 56
1054503 1975
50
Genetic complementation after fusion of Tay-Sachs and Sandhoff cells. 56
4367631 1974

Variations for Sandhoff Disease

ClinVar genetic disease variations for Sandhoff Disease:

6 (show top 50) (show all 143) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HEXB NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)SNV Likely benign, other 3881 rs121907984 5:74016956-74016956 5:74721131-74721131
2 HEXB NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)SNV Pathogenic 3887 rs121907986 5:74009409-74009409 5:74713584-74713584
3 HEXB NM_000521.4(HEXB):c.115del (p.Val39fs)deletion Pathogenic 93194 rs398123443 5:73981199-73981199 5:74685374-74685374
4 HEXB NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)SNV Pathogenic 242876 rs1114167287 5:73981255-73981255 5:74685430-74685430
5 HEXB NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)SNV Pathogenic 869190 5:74016316-74016316 5:74720491-74720491
6 HEXB NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs)indel Pathogenic 849280 5:74011454-74011456 5:74715629-74715631
7 HEXB NM_000521.4(HEXB):c.1294dup (p.Glu432fs)duplication Pathogenic 851972 5:74014671-74014672 5:74718846-74718847
8 HEXB nsv513799deletion Pathogenic 3873
9 HEXB NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)SNV Pathogenic 3878 rs28942073 5:74014629-74014629 5:74718804-74718804
10 HEXB NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)SNV Pathogenic 280067 rs573447174 5:73992558-73992558 5:74696733-74696733
11 HEXB NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)deletion Pathogenic 280975 rs776476415 5:74011454-74011457 5:74715629-74715632
12 HEXB NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)SNV Pathogenic 281002 rs753823903 5:73989526-73989526 5:74693701-74693701
13 HEXB NM_000521.4(HEXB):c.299G>C (p.Arg100Pro)SNV Pathogenic 397589 rs1060499701 5:73981384-73981384 5:74685559-74685559
14 HEXB NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)SNV Pathogenic 435415 rs764552042 5:74016556-74016556 5:74720731-74720731
15 HEXB NC_000005.10:g.(?_74685241)_(74697126_?)deldeletion Pathogenic 527972 5:73981066-73992951 5:74685241-74697126
16 HEXB NM_000521.4(HEXB):c.171del (p.Trp57fs)deletion Pathogenic 557707 rs771973471 5:73981255-73981255 5:74685430-74685430
17 HEXB NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)SNV Pathogenic 557986 rs761117459 5:73985186-73985186 5:74689361-74689361
18 HEXB NC_000005.10:g.(?_74685261)_(74697106_?)deldeletion Pathogenic 583659 5:73981086-73992931 5:74685261-74697106
19 HEXB NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)SNV Pathogenic 623308 rs138914144 5:74009400-74009400 5:74713575-74713575
20 HEXB NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)SNV Pathogenic 623479 rs1007338250 5:73981383-73981383 5:74685558-74685558
21 HEXB NM_000521.4(HEXB):c.445+1G>ASNV Pathogenic 633263 rs761197472 5:73985299-73985299 5:74689474-74689474
22 HEXB NM_000521.4(HEXB):c.171_176delinsCCCCC (p.Trp57fs)indel Pathogenic 658705 5:73981256-73981261 5:74685431-74685436
23 HEXB NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)SNV Pathogenic 664928 5:74009398-74009398 5:74713573-74713573
24 HEXB NM_000521.4(HEXB):c.1010dup (p.Lys338fs)duplication Pathogenic 665539 5:74011438-74011439 5:74715613-74715614
25 HEXB NC_000005.10:g.(?_74685251)_(74697116_?)deldeletion Pathogenic 644276 5:73981076-73992941 5:74685251-74697116
26 HEXB NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)SNV Pathogenic 800874 5:73981179-73981179 5:74685354-74685354
27 HEXB NM_000521.4(HEXB):c.64_65del (p.Leu22fs)deletion Pathogenic 860680 5:73981149-73981150 5:74685324-74685325
28 HEXB NM_000521.4(HEXB):c.451_452dup (p.Leu151fs)duplication Pathogenic 841253 5:73989467-73989468 5:74693642-74693643
29 HEXB NM_000521.4(HEXB):c.1509-26G>ASNV Pathogenic/Likely pathogenic 527971 rs201580118 5:74016442-74016442 5:74720617-74720617
30 HEXB NM_000521.4(HEXB):c.965del (p.Ile322fs)deletion Pathogenic/Likely pathogenic 557437 rs768438206 5:74011398-74011398 5:74715573-74715573
31 HEXB NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)SNV Pathogenic/Likely pathogenic 557658 rs1554036943 5:74014768-74014768 5:74718943-74718943
32 HEXB NM_000521.4(HEXB):c.1082+5G>ASNV Pathogenic/Likely pathogenic 354135 rs5030731 5:74011520-74011520 5:74715695-74715695
33 HEXB NM_000521.4(HEXB):c.298del (p.Arg100fs)deletion Pathogenic/Likely pathogenic 265360 rs886039499 5:73981383-73981383 5:74685558-74685558
34 HEXB NM_000521.4(HEXB):c.1531_1532GA[2] (p.Arg512fs)short repeat Pathogenic/Likely pathogenic 194180 rs794727091 5:74016490-74016491 5:74720665-74720666
35 HEXB NM_000521.4(HEXB):c.1243-2A>GSNV Pathogenic/Likely pathogenic 93197 rs398123446 5:74014620-74014620 5:74718795-74718795
36 HEXB NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)SNV Likely pathogenic 3879 rs121907983 5:74016473-74016473 5:74720648-74720648
37 HEXB NM_000521.4(HEXB):c.558+1G>CSNV Likely pathogenic 853457 5:73992565-73992565 5:74696740-74696740
38 HEXB NM_000521.4(HEXB):c.1082+2T>CSNV Likely pathogenic 836930 5:74011517-74011517 5:74715692-74715692
39 HEXB NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)SNV Likely pathogenic 381669 rs373979283 5:74009355-74009355 5:74713530-74713530
40 HEXB NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)SNV Likely pathogenic 372685 rs762892362 5:74014796-74014796 5:74718971-74718971
41 HEXB NM_000521.4(HEXB):c.1418-12_1418deldeletion Likely pathogenic 553888 rs1554037076 5:74016240-74016252 5:74720415-74720427
42 HEXB NM_000521.4(HEXB):c.1559_1560GA[4] (p.Asp521fs)short repeat Likely pathogenic 553993 rs1554037129 5:74016516-74016517 5:74720691-74720692
43 HEXB NM_000521.4(HEXB):c.1303_1304AG[1] (p.Arg435fs)short repeat Likely pathogenic 554177 rs779328596 5:74014682-74014683 5:74718857-74718858
44 HEXB NM_000521.4(HEXB):c.56del (p.Leu19fs)deletion Likely pathogenic 558245 rs1554034423 5:73981140-73981140 5:74685315-74685315
45 HEXB NM_000521.4(HEXB):c.118del (p.Ala40fs)deletion Likely pathogenic 554151 rs1554034447 5:73981202-73981202 5:74685377-74685377
46 HEXB NM_000521.4(HEXB):c.299+1G>ASNV Likely pathogenic 549963 rs1554034505 5:73981385-73981385 5:74685560-74685560
47 HEXB NM_000521.4(HEXB):c.133del (p.Ala45fs)deletion Likely pathogenic 552453 rs1554034449 5:73981216-73981216 5:74685391-74685391
48 HEXB NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)SNV Likely pathogenic 555683 rs1554034452 5:73981231-73981231 5:74685406-74685406
49 HEXB NM_000521.4(HEXB):c.902-1G>TSNV Likely pathogenic 556276 rs1554036638 5:74011334-74011334 5:74715509-74715509
50 HEXB NM_000521.4(HEXB):c.1611_1613+2deldeletion Likely pathogenic 550455 rs1554037170 5:74016568-74016572 5:74720743-74720747

UniProtKB/Swiss-Prot genetic disease variations for Sandhoff Disease:

73
# 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 rs121907982
5 HEXB p.Arg505Gln VAR_003253 rs121907983
6 HEXB p.Cys534Tyr VAR_003254
7 HEXB p.Ser255Arg VAR_011704
8 HEXB p.Pro504Ser VAR_011705 rs121907985
9 HEXB p.Ala543Thr VAR_011706 rs121907984

Copy number variations for Sandhoff Disease from CNVD:

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

Expression for Sandhoff Disease

Search GEO for disease gene expression data for Sandhoff Disease.

Pathways for Sandhoff Disease

Pathways related to Sandhoff Disease according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Other glycan degradation hsa00511

Pathways related to Sandhoff Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 UGCG SMPD1 PSAP NPC2 NPC1 HEXB
2
Show member pathways
13.77 PSAP NPC2 IGF2R HEXB GM2A GLB1
3
Show member pathways
12.14 UGCG SMPD1 PSAP HEXB HEXA GM2A
4
Show member pathways
11.58 HEXB HEXA GLB1
5 11.54 SMPD1 PSAP NPC2 NPC1 IGF2R HEXB
6
Show member pathways
11.15 HEXB HEXA GLA
7
Show member pathways
10.99 HEXB HEXA GLB1
8
Show member pathways
10.8 HEXB HEXA GLB1
9 10.71 HEXB HEXA GLB1 GBA2
10 10.7 SMPD1 CCL3
11
Show member pathways
10.62 NPC2 NPC1

GO Terms for Sandhoff Disease

Cellular components related to Sandhoff Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.1 SMPD1 PSAP NPC2 NPC1 HEXB GM2A
2 extracellular exosome GO:0070062 10.07 SMPD1 PSAP NPC2 NPC1 IGF2R HEXB
3 extracellular space GO:0005615 10.02 SMPD1 PSAP NPC2 IGF2R HEXB GLB1
4 lysosomal membrane GO:0005765 9.73 PSAP NPC1 IGF2R CTSA
5 azurophil granule lumen GO:0035578 9.7 NPC2 HEXB GM2A GLB1 GLA CTSA
6 lysosomal lumen GO:0043202 9.7 SMPD1 PSAP NPC2 HEXB HEXA GM2A
7 lysosome GO:0005764 9.44 SMPD1 PSAP NPC2 NPC1 IGF2R HEXB
8 azurophil granule GO:0042582 9.4 HEXB HEXA

Biological processes related to Sandhoff Disease according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 UGCG PSAP NPC2 NPC1 GM2A GBA2
2 carbohydrate metabolic process GO:0005975 9.86 HEXB HEXA GLB1 GLA
3 steroid metabolic process GO:0008202 9.78 NPC2 NPC1 GBA2
4 lipid transport GO:0006869 9.76 PSAP NPC2 NPC1 GM2A
5 cholesterol metabolic process GO:0008203 9.73 SMPD1 NPC2 NPC1 GBA2
6 metabolic process GO:0008152 9.7 SMPD1 OGA HEXB HEXA GLB1 GLA
7 neuromuscular process controlling balance GO:0050885 9.65 PSAP HEXB GM2A
8 sphingolipid metabolic process GO:0006665 9.65 UGCG PSAP GM2A GBA2 ASAH1
9 neutrophil degranulation GO:0043312 9.65 PSAP NPC2 IGF2R HEXB GM2A GLB1
10 ceramide metabolic process GO:0006672 9.63 SMPD1 PSAP
11 lipid storage GO:0019915 9.63 HEXB GM2A
12 low-density lipoprotein particle clearance GO:0034383 9.62 NPC2 NPC1
13 cholesterol transport GO:0030301 9.62 NPC2 NPC1
14 cholesterol efflux GO:0033344 9.61 NPC2 NPC1
15 hyaluronan catabolic process GO:0030214 9.6 HEXB HEXA
16 chondroitin sulfate catabolic process GO:0030207 9.59 HEXB HEXA
17 bile acid metabolic process GO:0008206 9.58 NPC1 GBA2
18 intracellular cholesterol transport GO:0032367 9.58 NPC2 NPC1
19 lysosomal transport GO:0007041 9.58 PSAP NPC1 IGF2R
20 oligosaccharide catabolic process GO:0009313 9.57 HEXB GM2A
21 astrocyte cell migration GO:0043615 9.55 HEXB CCL3
22 glycoside catabolic process GO:0016139 9.54 GLA GBA2
23 ganglioside catabolic process GO:0006689 9.52 HEXB GM2A
24 cornified envelope assembly GO:1903575 9.51 UGCG PSAP
25 keratan sulfate catabolic process GO:0042340 9.5 HEXB HEXA GLB1
26 positive regulation of hydrolase activity GO:0051345 9.49 PSAP GM2A
27 glycosphingolipid metabolic process GO:0006687 9.4 UGCG SMPD1 PSAP HEXB HEXA GM2A

Molecular functions related to Sandhoff Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 SMPD1 OGA HEXB HEXA GM2A GLB1
2 enzyme activator activity GO:0008047 9.58 PSAP GM2A CTSA
3 galactoside binding GO:0016936 9.46 GLB1 GLA
4 phospholipase activator activity GO:0016004 9.43 GM2A CCL3
5 beta-galactosidase activity GO:0004565 9.37 PSAP GLB1
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.35 HEXB HEXA GLB1 GLA GBA2
7 beta-N-acetylhexosaminidase activity GO:0004563 9.33 HEXB HEXA GM2A
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXB HEXA
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 SMPD1 OGA HEXB HEXA GLB1 GLA

Sources for Sandhoff Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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