eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mucopolysaccharidosis type iiib | ||||
| Disease ID | 1428 |
|---|---|
| Disease | mucopolysaccharidosis type iiib |
| Definition | A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. |
| Synonym | alpha-n-acetylglucosaminidase deficiency deficiencies, n-acetyl-alpha-d-glucosaminidase deficiencies, naglu deficiency, n-acetyl-alpha-d-glucosaminidase deficiency, naglu mps 3 b mps iii b mps iii-b - mucopolysaccharidosis iii-b mps iiib mps3b mpsiiib - mucopolysaccharidosis type iiib mucopolysaccharidosis iii-b mucopolysaccharidosis iii-b (disorder) mucopolysaccharidosis type 3 b mucopolysaccharidosis type iiib (disorder) mucopolysaccharidosis type iiibs mucopolysaccharidosis, mps-iii-b mucopolysaccharidosis, mps-iii-b (disorder) mucopolysaccharidosis, type iiib n acetyl alpha d glucosaminidase deficiency n-acetyl-alpha-d-glucosaminidase deficiencies n-acetyl-alpha-d-glucosaminidase deficiency naglu deficiencies naglu deficiency sanfilippo b sanfilippo syndrome b sanfilippo syndrome, type b |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0086648 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0042075 | urological disorders | 1 C0006111 | brain disease | 1 C0007682 | cns disease | 1 C0027765 | neurological disorders | 1 C0027765 | neurological disorder | 1 C0007682 | cns diseases | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1428 |
|---|---|
| Disease | mucopolysaccharidosis type iiib |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0002240 | Enlarged liver HP:0000943 | Dysostosis multiplex HP:0000365 | Hearing impairment HP:0002344 | Progressive neurologic deterioration HP:0001387 | Stiff joints HP:0001670 | Asymmetric septal hypertrophy HP:0000900 | Thickened ribs HP:0003309 | Ovoid thoracolumbar vertebrae HP:0002014 | Diarrhea HP:0002159 | Heparan sulfate excretion in urine HP:0001249 | Mental retardation HP:0001250 | Seizures HP:0002788 | Recurrent upper respiratory infection HP:0000250 | Dense skull cap HP:0002360 | Sleep disturbance HP:0002208 | Coarse hair texture HP:0001744 | Splenomegaly HP:0001007 | Hirsutism HP:0001640 | Increased heart size HP:0000280 | Coarse facial features HP:0000664 | Unibrow HP:0000752 | Hyperactive behavior HP:0000718 | Aggressive behaviour |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1428 |
|---|---|
| Disease | mucopolysaccharidosis type iiib |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894590 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42544027 | G | A |
| rs104894591 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543882 | C | G,T |
| rs104894592 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42541074 | C | T |
| rs104894593 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543934 | G | A |
| rs104894594 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543933 | C | T |
| rs104894595 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543568 | C | T |
| rs104894596 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543450 | C | T |
| rs104894597 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543699 | C | T |
| rs104894598 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543700 | G | A,C,T |
| rs104894601 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42538691 | C | T |
| rs114625063 | 14984474 | 4669 | NAGLU | umls:C0086648 | UNIPROT | Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years. | 0.446514605 | 2004 | NAGLU | 17 | 42543342 | G | A |
| rs118204024 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42536414 | T | C |
| rs118204025 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42541127 | C | G |
| rs148881970 | 9443875 | 4669 | NAGLU | umls:C0086648 | UNIPROT | Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for alpha-N-acetylglucosaminidase (NAGLU); only a few mutations have been described. | 0.446514605 | 1998 | NAGLU | 17 | 42543840 | A | G |
| rs200909691 | 14984474 | 4669 | NAGLU | umls:C0086648 | UNIPROT | Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years. | 0.446514605 | 2004 | NAGLU | 17 | 42543451 | G | A |
| rs368687817 | 9443878 | 4669 | NAGLU | umls:C0086648 | UNIPROT | NAGLU mutations underlying Sanfilippo syndrome type B. | 0.446514605 | 1998 | NAGLU | 17 | 42543079 | C | T |
| rs483352897 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42537517 | GGAGCGGCCA | - |
| rs527236037 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543955 | G | A |
| rs527236038 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42543952 | G | C,T |
| rs574688121 | 10094189 | 4669 | NAGLU | umls:C0086648 | UNIPROT | Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. | 0.446514605 | 1999 | NAGLU | 17 | 42543235 | T | C |
| rs797044751 | NA | 4669 | NAGLU | umls:C0086648 | CLINVAR | NA | 0.446514605 | NA | NAGLU | 17 | 42541129 | - | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000718 | Aggressive behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0010955 | abnormal respiratory electron transport chain | anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0001670 | Asymmetric septal hypertrophy | MP:0002625 | heart left ventricle hypertrophy | increased size of the left ventricle |
| HP:0002208 | Coarse hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0003309 | Ovoid thoracolumbar vertebrae | MP:0000137 | abnormal vertebrae morphology | any structural anomaly of the bony segments of the spinal column |
| 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 |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| 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:0001007 | Hirsutism | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000250 | Dense calvaria | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002159 | Heparan sulfate excretion in urine | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000718 | Aggressive behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003309 | Ovoid thoracolumbar vertebrae | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002788 | Recurrent upper respiratory tract infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002344 | Progressive neurologic deterioration | MP:0014142 | increased body fat mass | increased physical bulk or volume of fat in the whole body |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001670 | Asymmetric septal hypertrophy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000943 | Dysostosis multiplex | 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:0000900 | Thickened ribs | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| Disease ID | 1428 |
|---|---|
| Disease | mucopolysaccharidosis type iiib |
| Case | (Waiting for update.) |