| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.4%) |
22329490 (3401909) |
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. Jolly RD, Hopwood JJ, Marshall NR, Jenkins KS, Thompson DJ, Dittmer KE, Thompson JC, Fedele AO, Raj K, Giger U. N Z Vet J. 2012;60(3):183-8. |
| Joint laxity Epiphyseal dysplasia Hypoplasia of the odontoid process | ||
| c|DEL|103_124| | ||
| Amino Acid Sequence Animals Arylsulfatase B Base Sequence Canis familiaris Dog Diseases Gene Deletion Gene Expression Regulation, Enzymologic Male Mucopolysaccharidosis IV | ||
| 2 (40.1%) |
20589247 |
Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant. Guimaraes Mdo C, de Farias SM, Costa AM, de Amorim RF. Oral Health Prev Dent. 2010;8(2):139-42. |
| Open mouth Short neck | ||
| Bone Marrow Transplantation Gingival Hyperplasia Homo sapiens Jaw Cysts Macroglossia Male Maxilla Mucopolysaccharidosis VI Open Bite Tooth Abnormalities | ||
| 2 (40.1%) |
16632276 |
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report. Alpoz AR, Coker M, Celen E, Ersin NK, Gokcen D, van Diggelenc OP, Huijmansc JG. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(5):632-7. |
| Open mouth Short neck | ||
| ARSB | ||
| Alveolar Process Child Dentigerous Cyst Gingival Hyperplasia Hard Palate Homo sapiens Macroglossia Male Mouth Abnormalities Mucopolysaccharidosis VI Open Bite Tooth Abnormalities | ||
| 4 (27.8%) |
7608587 |
Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Smith KS, Hallett KB, Hall RK, Wardrop RW, Firth N. Int J Oral Maxillofac Surg. 1995;24(2):176-80. |
| Impacted tooth | ||
| Child Dental Sac Females Homo sapiens Male Mucopolysaccharidosis VI | ||
| 5 (26.3%) |
30470723 |
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. Pinto E Vairo F, Conboy E, de Souza CFM, Jones A, Barnett SS, Klee EW, Lanpher BC. Pediatrics. 2018;142(6):. |
| Coarse facial features | ||
| Adult Child Differential Diagnosis Females Homo sapiens Male Mucopolysaccharidosis VI Mutation Young Adult | ||
| 6 (23.3%) |
27512882 (4985337) |
The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report. Kaissi AA, Hofstaetter J, Weigel G, Grill F, Ganger R, Kircher SG. Medicine (Baltimore). 2016;95(32):e4561. |
| Hyperactivity Osteopenia Spondylolisthesis | ||
| ARSB GNS | ||
| Arylsulfatase B Child Child, Preschool Females Homo sapiens Intellectual Disability Male Mucopolysaccharidosis VI Pelvic Bones Seizures Skeleton | ||
| 6 (23.3%) |
21813307 |
Spinal cord compression in young children with type VI mucopolysaccharidosis. Horovitz DD, Magalhaes Tde S, Pena e Costa A, Carelli LE, Souza e Silva D, de Linhares e Riello AP, Llerena JC Jr. Mol Genet Metab. 2011;104(3):295-300. |
| Spinal cord compression Cervical instability | ||
| Child Child, Preschool Enzyme Replacement Therapy Evoked Potentials Females Homo sapiens Laminectomy Magnetic Resonance Imaging Male Mucopolysaccharidosis VI | ||
| 6 (23.3%) |
19968667 |
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. McGill JJ, Inwood AC, Coman DJ, Lipke ML, de Lore D, Swiedler SJ, Hopwood JJ. Clin Genet. 2010;77(5):492-8. |
| Scoliosis | ||
| ARSB | ||
| rs1554032175 | ||
| Arylsulfatase B Case-Control Studies Child, Preschool Enzyme Replacement Therapy Females Glycosaminoglycans Homo sapiens Infant Infant, Newborn Male Mucopolysaccharidosis VI Pregnancy Range of Motion, Articular Sibling | ||
| 6 (23.3%) |
3127360 |
[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient]. Keller C, Briner J, Schneider J, Spycher M, Rampini S, Gitzelmann R. Helv Paediatr Acta. 1987;42(4):317-33. |
| Cervical myelopathy Lumbar kyphoscoliosis | ||
| Adult Autopsy Homo sapiens Male Mucopolysaccharidoses Mucopolysaccharidosis VI | ||
| 10 (21.2%) |
30335002 (6211882) |
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. Ley-Martos M, Guerrero JM, Lucas-Javato M, Remon-Garcia C, Garcia-Lozano JR, Colon C, Crujeiras P, Rodrigues D, Paul-Sanchez P, Macher HC. Medicine (Baltimore). 2018;97(42):e12872. |
| Skeletal dysplasia | ||
| ARSB GLB1 | ||
| c|SUB|A|263|C | ||
| Arylsulfatase B Child, Preschool Enzyme Replacement Therapy Glycosaminoglycans Homo sapiens Homozygote Male Mucopolysaccharidosis IV Phenotype Recombinant Proteins Single Nucleotide Polymorphism beta-Galactosidase |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000246 | Sinusitis | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000389 | Chronic otitis media | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0002656 | Epiphyseal dysplasia | Very frequent (99-80%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Very frequent (99-80%) |
| HP:0003521 | Disproportionate short-trunk short stature | Very frequent (99-80%) |
| HP:0007759 | Opacification of the corneal stroma | Very frequent (99-80%) |
| HP:0008155 | Mucopolysacchariduria | Very frequent (99-80%) |
| HP:0009928 | Thick nasal alae | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000885 | Broad ribs | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003300 | Ovoid vertebral bodies | Frequent (79-30%) |
| HP:0100790 | Hernia | Frequent (79-30%) |
| HP:0000158 | Macroglossia | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0001654 | Abnormal heart valve morphology | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 14
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000238 | Hydrocephalus | 2 |
| HP:0002176 | Spinal cord compression | 2 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001285 | Spastic tetraparesis | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001718 | Mitral stenosis | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0001953 | Diabetic ketoacidosis | 1 |
| HP:0002155 | Hypertriglyceridemia | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0012578 | Membranous nephropathy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|