| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.8%) |
20197271 |
Hemiatrophy of the spinal cord in a patient with mucopolysaccharidosis type IIIB. Samia P, Wieselthaler N, van der Watt GF, Wilmshurst JM. J Child Neurol. 2010;25(10):1288-91. |
| Macrocephaly Hemiatrophy | ||
| Child Females Homo sapiens Mucopolysaccharidosis III Spinal Cord Spinal Cord Diseases | ||
| 2 (26.3%) |
25439061 (4260237) |
From hypertransaminasemia to mucopolysaccharidosis IIIA. Krawiec P, Pac-Kouchowska E, Melges B, Mroczkowska-Juchkiewicz A, Skomra S, Pawlowska-Kamieniak A, Kominek K. Ital J Pediatr. 2014;40:97. |
| Coarse facial features | ||
| Child Development Disorders, Pervasive Child, Preschool Developmental Disabilities Diagnostic Errors Differential Diagnosis Homo sapiens Male Mucopolysaccharidosis III | ||
| 3 (21.2%) |
16311883 |
Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. Fiszer-Szafarz B, Czartoryska B, Tylki-Szymanska A. Glycoconj J. 2005;22(7-9):395-400. |
| Rickets | ||
| GUSB HYAL1 OGA | ||
| Achondroplasia Child Child, Preschool Dysostoses Females Homo sapiens Male Mucolipidoses Mucopolysaccharidoses | ||
| 3 (21.2%) |
1836753 |
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion. Sewell AC, Wern C, Pontz BF. Clin Genet. 1991;40(4):312-7. |
| Skeletal dysplasia | ||
| Bone Diseases, Developmental Differential Diagnosis Females Glycosaminoglycans Homo sapiens Mucopolysaccharidosis III | ||
| 5 (17.5%) |
10910587 |
Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case. Lin SC, Hu FR, Hou JW, Yao YT, Wang TR, Hung PT. Acta Paediatr Taiwan. 1999;40(1):46-9. |
| Hirsutism Poor head control | ||
| Corneal Opacity Glaucoma Heparitin Sulfate Homo sapiens Infant Male Mucopolysaccharidosis III | ||
| 6 (4.0%) |
27827379 |
Kluver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). Hu H, Hubner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M. Eur J Hum Genet. 2017;25(2):253-256. |
| Hyperorality | ||
| HGSNAT | ||
| c|SUB|G|518|A;RS#:370717845 p|SUB|G|173|D;RS#:370717845 rs370717845 | ||
| Acetyltransferase Child Exome Females Genes, Recessive Homo sapiens Homozygote Kluver-Bucy Syndrome Male Mucopolysaccharidosis III Phenotype Sibling | ||
| 6 (4.0%) |
10598840 |
Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Neuropediatrics. 1999;30(5):270-4. |
| Seizure | ||
| Brain Child Child, Preschool Disease Progression Females Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Mucopolysaccharidosis III Psychomotor Disorders | ||
| 6 (4.0%) |
9821715 |
Type III D mucopolysaccharidosis (Sanfilippo D): clinical course and symptoms. Tylki-Szymanska A, Czartoryska B, Gorska D, Piesiewicz-Grzonkowska E. Acta Paediatr Jpn. 1998;40(5):492-4. |
| Hyperactivity | ||
| Child Homo sapiens Male Mucopolysaccharidosis III Sulfatases | ||
| 6 (4.0%) |
8497333 |
[Type D Sanfilippo disease in an 8-year-old boy; a rare cause of mental retardation]. del Canho H, van den Bergh FA, Duran M, Hennekam RC, Groniger AM, Poorthuis BJ. Ned Tijdschr Geneeskd. 1993;137(19):969-72. |
| Cataract | ||
| Cataract Child Homo sapiens Intellectual Disability Learning Disabilities Male Mucopolysaccharidosis III | ||
| 6 (4.0%) |
8469632 |
Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Muenzer J, Beekman RH, Profera LM, Bove EL. Pediatr Cardiol. 1993;14(2):130-2. |
| Congestive heart failure | ||
| Adult Females Hemodynamics Homo sapiens Mitral Valve Mitral Valve Insufficiency Mitral Valve Prolapse Syndrome Mucopolysaccharidosis III Suture Techniques |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000389 | Chronic otitis media | Very frequent (99-80%) |
| HP:0002024 | Malabsorption | Very frequent (99-80%) |
| HP:0002208 | Coarse hair | Very frequent (99-80%) |
| HP:0002230 | Generalized hirsutism | Very frequent (99-80%) |
| HP:0002360 | Sleep disturbance | Very frequent (99-80%) |
| HP:0006887 | Intellectual disability, progressive | Very frequent (99-80%) |
| HP:0008155 | Mucopolysacchariduria | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0000889 | Abnormality of the clavicle | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001604 | Vocal cord paresis | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Frequent (79-30%) |
| HP:0004493 | Craniofacial hyperostosis | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0003541 | Urinary glycosaminoglycan excretion | 1 |
| HP:0100556 | Hemiatrophy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|