eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sandhoff disease | ||||
| Disease ID | 209 |
|---|---|
| Disease | sandhoff disease |
| Definition | An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. |
| Synonym | defic dis hexosaminidase a and b deficiency disease, hexosaminidase a and b disease, sandhoff-jatzkewitz-pilz g(m2) gangliosidosis, type ii gangliosidosis g(m2), type ii gangliosidosis gm 02 type ii gangliosidosis gm2 type ii gangliosidosis gm2, type ii gm gangliosidosis 02 type ii gm2 gangliosidosis type ii gm2 gangliosidosis, type 2 gm2 gangliosidosis, type ii gm2-gangliosidoses, type ii gm2-gangliosidosis, type ii gm2 gangliosidosis, type 2 gm>2< gangliosidosis, type 2 hexosaminidase a and b defic dis hexosaminidase a and b deficiency hexosaminidase a and b deficiency disease hexosaminidases a and b deficiency o variant sandhoff dis sandhoff disease (disorder) sandhoff disease [disease/finding] sandhoff jatzkewitz disease sandhoff jatzkewitz pilz disease sandhoff's disease sandhoff-jatzkewitz-pilz disease sandhoffs dis sandhoffs disease total hexosaminidase deficiency type ii gm2-gangliosidoses type ii gm2-gangliosidosis |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0036161 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:31) C0028754 | obesity | 19 C0011860 | type 2 diabetes | 3 C0028754 | adiposity | 3 C0011847 | diabetes | 3 C0004352 | autism | 3 C0242379 | lung cancer | 3 C0376358 | prostate cancer | 2 C0024299 | lymphoma | 2 C0021364 | male infertility | 1 C0031106 | aggressive periodontitis | 1 C0279671 | cervical squamous cell carcinoma | 1 C0302592 | cervical carcinoma | 1 C0001430 | adenoma | 1 C0007137 | squamous cell carcinoma | 1 C0022658 | kidney disease | 1 C0041228 | african trypanosomiasis | 1 C0002726 | amyloidosis | 1 C0021359 | infertility | 1 C0031117 | peripheral neuropathy | 1 C0001418 | adenocarcinoma | 1 C0024301 | follicular lymphoma | 1 C0020538 | hypertension | 1 C0021053 | immune disease | 1 C0025202 | melanoma | 1 C0085084 | motor neuron disease | 1 C0023452 | childhood acute lymphoblastic leukemia | 1 C0302592 | cervical ca | 1 C0022661 | end-stage kidney disease | 1 C0235974 | pancreatic cancer | 1 C0041227 | trypanosomiasis | 1 C0279626 | esophageal squamous cell carcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 199 | AIF1 | 1.685 | DISEASES 54840 | APTX | 1.76 | DISEASES 427 | ASAH1 | 1.101 | DISEASES 10871 | CD300C | 2.194 | DISEASES 5476 | CTSA | 4.292 | DISEASES 2108 | ETFA | 5.946 | DISEASES 57704 | GBA2 | 2.285 | DISEASES 2760 | GM2A | 5.594 | DISEASES 3482 | IGF2R | 2.751 | DISEASES 80789 | INTS5 | 3.203 | DISEASES 3916 | LAMP1 | 1.84 | DISEASES 10724 | MGEA5 | 6.155 | DISEASES 4668 | NAGA | 2.022 | DISEASES 10577 | NPC2 | 1.475 | DISEASES 23467 | NPTXR | 1.853 | DISEASES 5367 | PMCH | 1.771 | DISEASES 5660 | PSAP | 1.871 | DISEASES 5730 | PTGDS | 1.476 | DISEASES 79628 | SH3TC2 | 2.399 | DISEASES 706 | TSPO | 1.008 | DISEASES 7357 | UGCG | 2.66 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 209 |
|---|---|
| Disease | sandhoff disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:38) HP:0000158 | Abnormally large tongue HP:0001278 | Orthostatic hypotension HP:0000256 | Macrocrania HP:0000365 | Hearing impairment HP:0000020 | Bladder incontinence HP:0002205 | Recurrent respiratory infections HP:0001635 | Congestive heart failure HP:0001251 | Ataxia HP:0000618 | Blindness HP:0002652 | Skeletal dysplasia HP:0002028 | Chronic diarrhea HP:0010729 | Cherry red spot of the macula HP:0000966 | Decreased sweating HP:0002574 | Episodic abdominal pain HP:0001433 | Enlarged liver and spleen HP:0000975 | Increased sweating HP:0001250 | Seizures HP:0006901 | Impaired thermal sensitivity HP:0000256 | Macrocephaly HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs HP:0000293 | Full cheeks HP:0100022 | Abnormality of movement HP:0001324 | Muscular weakness HP:0002808 | Kyphosis HP:0001508 | Failure to thrive HP:0002240 | Hepatomegaly HP:0007272 | Progressive psychomotor deterioration HP:0002333 | Motor deterioration HP:0001744 | Splenomegaly HP:0002380 | Muscle twitch HP:0000802 | Erectile dysfunction HP:0001347 | Hyperreflexia HP:0001324 | Muscle weakness HP:0010729 | Macular cherry red spot HP:0001640 | Increased heart size HP:0000280 | Coarse facial features HP:0004343 | Abnormality of glycosphingolipid metabolism HP:0001260 | Dysarthric speech |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0001513 | Obesity | 19 HP:0000717 | Autism | 3 HP:0000855 | Insulin resistance | 2 HP:0012125 | Prostate cancer | 2 HP:0002665 | Lymphoma | 2 HP:0030216 | Inertia | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0011034 | Amyloid disease | 1 HP:0030731 | Carcinoma | 1 HP:0000822 | Hypertension | 1 HP:0002960 | Autoimmune condition | 1 HP:0003251 | Male infertility | 1 HP:0000789 | Infertility | 1 HP:0001347 | Hyperreflexia | 1 HP:0001824 | Weight loss | 1 HP:0001249 | Mental retardation | 1 HP:0002894 | Neoplasia of the pancreas | 1 HP:0012743 | Central obesity | 1 HP:0009830 | Peripheral neuritis | 1 HP:0002861 | Melanoma | 1 HP:0002180 | Neurodegeneration | 1 HP:0003765 | Psoriasis | 1 |
| Disease ID | 209 |
|---|---|
| Disease | sandhoff disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0039373 | tay-sachs |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121907983 | 23759947 | 3074 | HEXB | umls:C0036161 | BeFree | Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. | 0.46005048 | 2013 | HEXB | 5 | 74720648 | G | A |
| rs121907986 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74713584 | C | T |
| rs28942073 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74718804 | C | T |
| rs28942073 | 7557963 | 3074 | HEXB | umls:C0036161 | UNIPROT | A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. | 0.46005048 | 1995 | HEXB | 5 | 74718804 | C | T |
| rs398123443 | 22191674 | 3074 | HEXB | umls:C0036161 | BeFree | Because the 4 patients from this community share a common c.115delG mutation in the coding region of the HEXB gene, it may be possible to offer an effective preventive screening program for Sandhoff disease using this assay. | 0.46005048 | 2012 | HEXB;LOC105379038 | 5 | 74685375 | G | - |
| rs398123443 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB;LOC105379038 | 5 | 74685375 | G | - |
| rs398123445 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74718359 | CAAAG | - |
| rs398123446 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74718795 | A | G |
| rs398123447 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74718929 | G | T |
| rs398123450 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74713531 | A | G |
| rs727503959 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74705325 | G | C |
| rs794727049 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74720488 | T | G |
| rs794727091 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74720669 | GA | - |
| rs797044644 | NA | 3074 | HEXB | umls:C0036161 | CLINVAR | NA | 0.46005048 | NA | HEXB | 5 | 74720663 | - | CAAGTGCTGTTGG |
| rs820878 | 7633435 | 3074 | HEXB | umls:C0036161 | UNIPROT | A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. | 0.46005048 | 1995 | HEXB;LOC105379038 | 5 | 74685445 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004343 | Abnormality of glycosphingolipid metabolism | MP:0004728 | abnormal efferent ductules of testis morphology | any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0010729 | Cherry red spot of the macula | MP:0005060 | accumulation of giant lysosomes in kidney/renal tubule cells | buildup of contents in lysosomes in cells of the kidney tubules |
| HP:0000020 | Urinary incontinence | MP:0003280 | urinary incontinence | inability to control the urinary bladder excretory functions leading to involuntary urination |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:35) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001640 | Cardiomegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006901 | Impaired thermal sensitivity | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002333 | Motor deterioration | MP:0012559 | decreased forebrain volume | decrease from the average range of forebrain volume compared to normal |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010729 | Cherry red spot of the macula | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004343 | Abnormality of glycosphingolipid metabolism | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000020 | Urinary incontinence | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002380 | Fasciculations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001278 | Orthostatic hypotension | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0007272 | Progressive psychomotor deterioration | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| Disease ID | 209 |
|---|---|
| Disease | sandhoff disease |
| Case | (Waiting for update.) |