eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sanfilippo syndrome type a | ||||
| Disease ID | 1427 |
|---|---|
| Disease | sanfilippo syndrome type a |
| Definition | A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. |
| Synonym | deficiencies, sulfamidase deficiency, sulfamidase heparan sulfamidase deficiency heparan sulfate sulfatase deficiency heparan sulphamidase deficiency heparan sulphate sulphatase deficiency heparan-n-sulfatase deficiency heparan-n-sulphatase deficiency mp iii mps 3 a mps iii a mps iii-a - mucopolysaccharidosis iii-a mps iiia mps3a mpsiiia - mucopolysaccharidosis type iiia mucopolysaccharidosis iii-a mucopolysaccharidosis iii-a (disorder) mucopolysaccharidosis type 3 a mucopolysaccharidosis type 3 a sanfilippo syndrome mucopolysaccharidosis type iiia mucopolysaccharidosis type iiia (disorder) mucopolysaccharidosis type iiias mucopolysaccharidosis, mps-iii-a mucopolysaccharidosis, mps-iii-a (disorder) mucopolysaccharidosis, type iiia n-sulfoglucosamine sulfohydrolase deficiency n-sulphoglucosamine sulphohydrolase deficiency sanfilippo a sanfilippo syndrome a sanfilippo syndrome, type a sulfamidase deficiencies sulfamidase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0086647 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SGSH | 17q25.3 |
| Disease ID | 1427 |
|---|---|
| Disease | sanfilippo syndrome type a |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0001387 | Stiff joints HP:0002208 | Coarse hair texture HP:0001744 | Splenomegaly HP:0002240 | Enlarged liver HP:0001507 | Abnormal growth HP:0001249 | Mental retardation HP:0001670 | Asymmetric septal hypertrophy HP:0001250 | Seizures HP:0000900 | Thickened ribs HP:0003309 | Ovoid thoracolumbar vertebrae HP:0002014 | Diarrhea HP:0000943 | Dysostosis multiplex HP:0000365 | Hearing impairment HP:0001007 | Hirsutism HP:0002159 | Heparan sulfate excretion in urine HP:0000280 | Coarse facial features HP:0002788 | Recurrent upper respiratory infection HP:0000250 | Dense skull cap HP:0002360 | Sleep disturbance HP:0000664 | Unibrow HP:0000752 | Hyperactive behavior |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1427 |
|---|---|
| Disease | sanfilippo syndrome type a |
| Manually Symptom | (Waiting for update.) |
| 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:27) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894635 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80213815 | C | T |
| rs104894635 | 21671382 | 6448 | SGSH | umls:C0086647 | UNIPROT | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 0.448414698 | 2011 | SGSH | 17 | 80213815 | C | T |
| rs104894635 | 9700599 | 6448 | SGSH | umls:C0086647 | BeFree | We have identified a common mutation (R245H) in the sulphamidase gene of Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA, MPS IIIA) patients from The Netherlands. | 0.448414698 | 1998 | SGSH | 17 | 80213815 | C | T |
| rs104894636 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80217061 | G | A |
| rs104894636 | 11793481 | 6448 | SGSH | umls:C0086647 | BeFree | In this study two mutations of SGSH were identified in MPS IIIA patients: R74C and the novel mutation P288S, and one polymorphism (IVS1+23 C>G). | 0.448414698 | 2002 | SGSH | 17 | 80217061 | G | A |
| rs104894636 | 9401012 | 6448 | SGSH | umls:C0086647 | BeFree | Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). | 0.448414698 | 1997 | SGSH | 17 | 80217061 | G | A |
| rs104894637 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80217084 | G | C,A |
| rs104894638 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80214672 | C | T |
| rs104894639 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80210622 | C | T |
| rs104894640 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80210856 | C | T,G |
| rs104894641 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80210663 | C | T |
| rs104894642 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80214738 | G | A |
| rs104894643 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80214218 | C | T,G |
| rs113641837 | NA | 6448 | SGSH | umls:C0086647 | UNIPROT | NA | 0.448414698 | NA | SGSH | 17 | 80213848 | G | C |
| rs138504221 | 21671382 | 6448 | SGSH | umls:C0086647 | BeFree | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 0.448414698 | 2011 | SGSH | 17 | 80212128 | A | G |
| rs138504221 | 21671382 | 6448 | SGSH | umls:C0086647 | UNIPROT | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 0.448414698 | 2011 | SGSH | 17 | 80212128 | A | G |
| rs138504221 | 18407553 | 6448 | SGSH | umls:C0086647 | BeFree | The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). | 0.448414698 | 2008 | SGSH | 17 | 80212128 | A | G |
| rs138504221 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80212128 | A | G |
| rs144461610 | 21671382 | 6448 | SGSH | umls:C0086647 | UNIPROT | Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. | 0.448414698 | 2011 | SGSH | 17 | 80212268 | C | G |
| rs281865037 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101753540 | C | T |
| rs34159654 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101830666 | T | G |
| rs34788341 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101757566 | A | C |
| rs34901902 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101764862 | TGAGT | - |
| rs34946266 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101786014 | T | C,A |
| rs35878526 | NA | 79158 | GNPTAB | umls:C0086647 | CLINVAR | NA | 0.12 | NA | GNPTAB | 12 | 101771097 | G | A |
| rs529855742 | 9554748 | 6448 | SGSH | umls:C0086647 | UNIPROT | Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. | 0.448414698 | 1998 | SGSH | 17 | 80214291 | G | A |
| rs778700037 | NA | 6448 | SGSH | umls:C0086647 | CLINVAR | NA | 0.448414698 | NA | SGSH | 17 | 80210933 | - | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| 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: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:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000900 | Thickened ribs | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001387 | Joint stiffness | 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: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: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:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain 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: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:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001507 | Growth abnormality | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 |
| Disease ID | 1427 |
|---|---|
| Disease | sanfilippo syndrome type a |
| Case | (Waiting for update.) |