| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 10 (26.3%) |
20504305 (2890619) |
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. Shah GS, Mahal T, Sharma S. J Med Case Rep. 2010;4:154. |
| Coarse facial features | ||
| 10 (26.3%) |
19931921 |
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Wold SM, Derkay CS, Darrow DH, Proud V. Int J Pediatr Otorhinolaryngol. 2010;74(1):27-31. |
| Coarse facial features | ||
| Child Child, Preschool Differential Diagnosis Females Health Status Homo sapiens Infant Male Middle Ear Ventilation Mucopolysaccharidoses Pediatrics Physician's Role Referral and Consultation Retrospective Studies Trinucleotide Repeats Young Adult | ||
| 10 (26.3%) |
18396123 |
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome. Galan-Gomez E, Guerrero-Rico A, Caceres-Marzal C, Zambrano-Castano M, Moreno-Tejero ML, Grande-Tejada AM, Fernandez-Hernandez S, Vaquerizo-Madrid J, Cardesa-Garcia JJ. Eur J Med Genet. 2008;51(3):268-71. |
| Hypospadias Coarse facial features | ||
| IDS | ||
| p|SUB|N|350|H | ||
| Child, Preschool Homo sapiens Iduronate Sulfatase Male Mucopolysaccharidosis II | ||
| 14 (23.3%) |
26588497 |
Thoracolumbar kyphoscoliosis with unilateral subluxation of the spine and postoperative lumbar spondylolisthesis in Hunter syndrome. Roberts SB, Tsirikos AI. J Neurosurg Spine. 2016;24(3):402-6. |
| Scoliosis | ||
| IGKV1-16 RPL4 | ||
| Child Homo sapiens Lumbosacral Region Male Mucopolysaccharidosis II Postoperative Complications Spondylolisthesis X-Ray Computed Tomography | ||
| 14 (23.3%) |
23873243 |
Symptomatic vertebral artery stenosis secondary to cervical spondylolisthesis. Pinol I, Ramirez M, Salo G, Ros AM, Blanch AL. Spine (Phila Pa 1976). 2013;38(23):E1503-5. |
| Syncope Spondylolisthesis | ||
| Adult Biomechanical Phenomena Cervical Vertebrae Dizziness Head Movements Homo sapiens Magnetic Resonance Imaging Male Predictive Value of Tests Range of Motion, Articular Spondylolisthesis Vertebrobasilar Insufficiency Vertigo X-Ray Computed Tomography | ||
| 14 (23.3%) |
15909065 |
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome. Chou YY, Chao SC, Kuo PL, Lin SJ. J Formos Med Assoc. 2005;104(4):273-5. |
| Joint stiffness Kyphosis | ||
| Child DNA Mutational Analysis Homo sapiens Iduronate Sulfatase Male Molecular Sequence Data Mucopolysaccharidosis II Mutation Sequence Deletion | ||
| 17 (21.2%) |
29018650 (5629353) |
Surgical Treatment of Rotational Vertebral Artery Syndrome Induced by Spinal Tumor: A Case Report and Literature Review. Haimoto S, Nishimura Y, Hara M, Yamamoto Y, Fukuoka T, Fukuyama R, Wakabayashi T, Ginsberg HJ. NMC Case Rep J. 2017;4(4):101-105. |
| Stroke Osteochondroma | ||
| NBN | ||
| 17 (21.2%) |
9598589 |
Clinical and morphologic features of mucopolysaccharidosis type II in a dog: naturally occurring model of Hunter syndrome. Wilkerson MJ, Lewis DC, Marks SL, Prieur DJ. Vet Pathol. 1998;35(3):230-3. |
| Visual impairment Osteopenia | ||
| Animals Canis familiaris Cerebellum Dog Diseases Epithelium Fatal Outcome Females Iduronate Sulfatase Male Mucopolysaccharidosis II Purkinje Cells Spinal Cord | ||
| 19 (20.4%) |
31046699 |
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. BMC Med Genet. 2019;20(1):66. |
| Joint stiffness | ||
| IDS IDUA | ||
| Child, Preschool Females Homo sapiens Iduronate Sulfatase Mucopolysaccharidosis II | ||
| 19 (20.4%) |
24056375 |
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. Annibali R, Caponi L, Morganti A, Manna M, Gabrielli O, Ficcadenti A. Minerva Pediatr. 2013;65(5):487-96. |
| Joint stiffness | ||
| Child, Preschool Follow-Up Studies Homo sapiens Male Mucopolysaccharidosis II Phenotype Severity of Illness Index Time Factors |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Very frequent (99-80%) |
| HP:0000687 | Widely spaced teeth | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0001085 | Papilledema | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
| HP:0002230 | Generalized hirsutism | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0008155 | Mucopolysacchariduria | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000403 | Recurrent otitis media | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001626 | Abnormality of the cardiovascular system | Frequent (79-30%) |
| HP:0002024 | Malabsorption | Frequent (79-30%) |
| HP:0003272 | Abnormality of the hip bone | Frequent (79-30%) |
| HP:0007703 | Abnormality of retinal pigmentation | Frequent (79-30%) |
| HP:0000158 | Macroglossia | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0002777 | Tracheal stenosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
Total: 38
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001297 | Stroke | 3 |
| HP:0000023 | Inguinal hernia | 2 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0010307 | Stridor | 2 |
| HP:0010535 | Sleep apnea | 2 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001395 | Hepatic fibrosis | 1 |
| HP:0001678 | Atrioventricular block | 1 |
| HP:0001718 | Mitral stenosis | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002318 | Cervical myelopathy | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002791 | Hypoventilation | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003302 | Spondylolisthesis | 1 |
| HP:0003423 | Thoracolumbar kyphoscoliosis | 1 |
| HP:0008430 | Anterior beaking of lumbar vertebrae | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0012307 | Spatulate ribs | 1 |
| HP:0025267 | Snoring | 1 |
| HP:0025324 | Arterial occlusion | 1 |
| HP:0030148 | Heart murmur | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0100014 | Epiretinal membrane | 1 |
| HP:0100832 | Vitreous floaters | 1 |
| HP:0200034 | Papule | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|