| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (23.3%) |
3228136 |
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder. Chitayat D, Nakagawa S, Marion RW, Sachs GS, Hahm SY, Goldman HS. Am J Med Genet. 1988;31(3):527-32. |
| Hepatosplenomegaly Spondylolisthesis | ||
| Amidohydrolases Aspartylglucosylaminase Diseases in Twins Genes, Recessive Gonadal Dysgenesis Homo sapiens Male Puerto Rico Spondylolisthesis Spondylolysis Testis | ||
| 2 (17.5%) |
23271757 |
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Burger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. J Child Neurol. 2014;29(1):36-42. |
| Behavioral abnormality Severe muscular hypotonia | ||
| c|SUB|C|346|T c|SUB|T|439|C p|SUB|R|116|W p|SUB|S|147|P rs386833423 rs386833428 | ||
| Aspartylglucosaminuria Aspartylglucosylaminase Brain Electroencephalography Females Homo sapiens Infant Magnetic Resonance Imaging Mutation Qatar | ||
| 2 (17.5%) |
15036433 |
Startle epilepsy complicating aspartylglucosaminuria. Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A. Brain Dev. 2004;26(2):130-3. |
| Seizure Frequent falls | ||
| Acoustic Stimulation Adult Anticonvulsants Brain Differential Diagnosis Electroencephalography Electromyography Epilepsy Gait Disorders, Neurologic Homo sapiens Lysosomal Storage Diseases, Nervous System Magnetic Resonance Imaging Male Muscle Contraction Reflex, Startle | ||
| 4 (4.0%) |
28063748 |
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T. Brain Dev. 2017;39(5):422-425. |
| Developmental regression | ||
| AGA | ||
| Aspartylglucosaminuria Aspartylglucosylaminase Exome Homo sapiens Japan Magnetic Resonance Imaging Male Mutation Spectrometry, Mass, Matrix-Assisted Laser Desorpti... | ||
| 4 (4.0%) |
25190167 |
[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review]. Liu Y, Zou L, Meng Y, Zhang Y, Shi X, Ju J, Yang G, Hu L, Chen X. Zhonghua Er Ke Za Zhi. 2014;52(6):455-9. |
| Hepatosplenomegaly | ||
| AGA | ||
| c|SUB|C|392|T p|SUB|S|131|L | ||
| Aspartylglucosaminuria Aspartylglucosylaminase Biological Markers Brain Child, Preschool DNA Mutational Analysis Heterozygote Homo sapiens Infant Lysosomal Storage Diseases Magnetic Resonance Imaging Male Mutation Polymerase Chain Reaction | ||
| 4 (4.0%) |
19175389 |
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report. Ambrosetto G, Santucci M. Epilepsia. 2009;50(6):1638-40. |
| Seizure | ||
| Adult Aspartylglucosaminuria Homo sapiens Male Polysomnography Seizures Sleep Wake Disorders Video Recording | ||
| 4 (4.0%) |
15316370 |
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. Malm G, Mansson JE, Winiarski J, Mosskin M, Ringden O. Transplantation. 2004;78(3):415-9. |
| Axonal degeneration | ||
| Amino Acid Metabolism, Inborn Errors Child Child, Preschool Females Follow-Up Studies Homo sapiens Intellectual Disability Male Sibling Time Factors Tissue Donors Transplantation, Homologous | ||
| 4 (4.0%) |
12366426 |
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. Vargas-Diez E, Chabas A, Coll MJ, Sanchez-Perez J, Garcia-Diez A, Fernandez-Herrera JM. Br J Dermatol. 2002;147(4):760-4. |
| Psychosis | ||
| Adult Aspartylglucosaminuria Disease Progression Fabry Disease Females Follow-Up Studies Homo sapiens Macroglossia Skin Diseases, Genetic | ||
| 4 (4.0%) |
939543 |
Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics. Isenberg JN, Sharp HL. Hum Pathol. 1976;7(4):469-81. |
| Hepatosplenomegaly | ||
| Amidohydrolases Aspartylglucosylaminase Child, Preschool Females Hexosamines Histocytochemistry Homo sapiens Inborn Errors of Metabolism Intestines, Small Leukocytes Liver Renal Aminoacidurias Skin | ||
| 4 (4.0%) |
805826 |
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis. Isenberg JN, Sharp HL. J Pediatr. 1975;86(5):713-7. |
| Visceromegaly | ||
| Amidohydrolases Aminoglycosides Arthropathy Child, Preschool Cleidocranial Dysplasia Differential Diagnosis Facial Expression Females Hepatomegaly Homo sapiens Inborn Errors of Metabolism Leukocytes Lymphocyte Mass Screening Mucopolysaccharidoses Psychomotor Disorders Splenomegaly Thin Layer Chromatography Vacuole |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000212 | Gingival overgrowth | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001537 | Umbilical hernia | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004337 | Abnormality of amino acid metabolism | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0012068 | Aspartylglucosaminuria | Very frequent (99-80%) |
| HP:0012471 | Thick vermilion border | Very frequent (99-80%) |
| HP:0100660 | Dyskinesia | Very frequent (99-80%) |
| HP:0100729 | Large face | Very frequent (99-80%) |
| HP:0000053 | Macroorchidism | Frequent (79-30%) |
| HP:0000158 | Macroglossia | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0002684 | Thickened calvaria | Frequent (79-30%) |
| HP:0002997 | Abnormality of the ulna | Frequent (79-30%) |
| HP:0003103 | Abnormal cortical bone morphology | Frequent (79-30%) |
| HP:0008430 | Anterior beaking of lumbar vertebrae | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000389 | Chronic otitis media | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001369 | Arthritis | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0002024 | Malabsorption | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0003468 | Abnormal vertebral morphology | Occasional (29-5%) |
| HP:0004568 | Beaking of vertebral bodies | Occasional (29-5%) |
| HP:0011276 | Vascular skin abnormality | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0025356 | Psychomotor retardation | 3 |
| HP:0001250 | Seizures | 2 |
| HP:0000708 | Behavioral abnormality | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0002359 | Frequent falls | 1 |
| HP:0002883 | Hyperventilation | 1 |
| HP:0003271 | Visceromegaly | 1 |