| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
22436304 (3359208) |
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. BMC Med Genet. 2012;13:19. |
| Glossoptosis Micrognathia | ||
| MN1 NF2 PITPNB TTC28 | ||
| rs147334255 | ||
| Adult Animals Base Pairing Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 Cleft Palate Facies Females Homo sapiens Infant Infant, Newborn Maxillofacial Development Mus Neurofibromatosis 2 Pierre Robin Syndrome Pregnancy Trans-Activators Tumor Suppressor Proteins | ||
| 2 (49.0%) |
23453897 |
Macrodactyly in the setting of a plexiform schwannoma in neurofibromatosis type 2: case report. Bendon CL, Giele HP. J Hand Surg Am. 2013;38(4):740-4. |
| Macrodactyly Small finger | ||
| Child Fingers Health Risk Assessment Homo sapiens Limb Deformities, Congenital Male Neurofibromatosis 2 Plexiform Neurofibroma Rare Diseases | ||
| 3 (40.9%) |
29147294 (5649792) |
Meningioangiomatosis Without Neurofibromatosis Type 2. Marzi S, De Paulis D, Ricci A, Taddei G, Dehcordi SR, Coletti G, Maselli G, Galzio RJ. World J Oncol. 2012;3(3):127-133. |
| Sinusitis | ||
| 4 (38.2%) |
19629903 |
Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop. Tibussek D, Hubsch S, Berger K, Schaper J, Rosenbaum T, Mayatepek E. Klin Padiatr. 2009;221(4):247-50. |
| Retinal hamartoma Facial palsy | ||
| NF2 | ||
| Cafe-au-Lait Spots Child Child, Preschool Chromosome Aberrations Cranial Nerve Neoplasms Differential Diagnosis Fluorescein Angiography Follow-Up Studies Genes, Dominant Hamartoma Homo sapiens Infant Infant, Newborn Leg Magnetic Resonance Imaging Male Muscle Weakness Neurilemmoma Neurofibromatosis 2 Neuromuscular Diseases Retinal Diseases Vestibulocochlear Nerve Diseases | ||
| 5 (35.3%) |
22710553 |
Management of hearing in pediatric NF2. Shepard TH, Tucci DL, Grant GA, Kaylie DM. Otol Neurotol. 2012;33(6):1066-70. |
| Facial paralysis | ||
| NF2 | ||
| Angiogenesis Inhibitors Antibodies, Monoclonal, Humanized Auditory Brain Stem Implants Child Combined Modality Therapy Females Homo sapiens Intraoperative Complications Labyrinth Magnetic Resonance Imaging Male Neurilemmoma Neurofibromatosis 2 | ||
| 5 (35.3%) |
21968382 |
Facial reanimation of patients with neurofibromatosis type 2. Vakharia KT, Henstrom D, Plotkin SR, Cheney M, Hadlock TA. Neurosurgery. 2012;70(2 Suppl Operative):237-43. |
| Facial paralysis | ||
| NF2 TMTC3 | ||
| Adult Child Females Homo sapiens Male Middle Aged Neurofibromatosis 2 Retrospective Studies Tissue Transplantation Young Adult | ||
| 5 (35.3%) |
17159493 |
Intracochlear hemorrhage after gamma knife radiosurgery. Franco-Vidal V, Songu M, Blanchet H, Barreau X, Darrouzet V. Otol Neurotol. 2007;28(2):240-4. |
| Facial paralysis | ||
| NF2 | ||
| Adult Audiometry, Pure-Tone Cochlear Diseases Deafness Hemorrhage Homo sapiens Magnetic Resonance Imaging Male Neurofibromatosis 2 Radiosurgery | ||
| 8 (29.2%) |
29534265 |
[Retinal Astrocytic Hamartoma in Neurofibromatosis Type 2 - Metaanalysis and a Case Report]. Starosta DA, Lorenz B. Klin Monbl Augenheilkd. 2018;235(3):290-300. |
| Cataract Retinal hamartoma | ||
| NF2 PLXNA2 | ||
| Astrocytes DNA Mutational Analysis Diagnostic Techniques, Ophthalmological Differential Diagnosis Females Fluorescein Angiography Hamartoma Homo sapiens Meningeal Neoplasms Meningioma Neurofibromatosis 2 Neurofibromin 2 Retinal Diseases Tomography, Optical Coherence | ||
| 8 (29.2%) |
26047750 |
[Early type 2 neurofibromatosis and congenital retinal hamartoma]. Herisse AL, Poiree M, Boyer C, Soler C, Leloutre B, Geoffray A. Arch Pediatr. 2015;22(7):729-32. |
| Amblyopia Retinal hamartoma | ||
| NF2 | ||
| Child Females Hamartoma Homo sapiens Neurofibromatosis 2 Retinal Diseases | ||
| 8 (29.2%) |
25439059 |
[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression]. Drouet A, Le Moigne F, Salame D, Quesnel L, Motolese C, des Portes V, Guilloton L, Pinson S. Arch Pediatr. 2014;21(11):1233-40. |
| Retinal hamartoma | ||
| COX8A NF2 | ||
| Adult Child Chromosome Deletion Early Diagnosis Exons Gene Expression Genes, Dominant Homo sapiens Male Mosaicism Neurofibromatosis 2 Neurofibromin 2 Phenotype |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000360 | Tinnitus | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0002321 | Vertigo | Very frequent (99-80%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0002076 | Migraine | Frequent (79-30%) |
| HP:0008069 | Neoplasm of the skin | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000763 | Sensory neuropathy | Occasional (29-5%) |
| HP:0001288 | Gait disturbance | Occasional (29-5%) |
| HP:0001482 | Subcutaneous nodule | Occasional (29-5%) |
| HP:0002516 | Increased intracranial pressure | Occasional (29-5%) |
| HP:0002858 | Meningioma | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0008046 | Abnormal retinal vascular morphology | Occasional (29-5%) |
| HP:0009193 | Pseudoepiphyses of the metacarpals | Occasional (29-5%) |
| HP:0009592 | Astrocytoma | Occasional (29-5%) |
| HP:0009595 | Occasional neurofibromas | Occasional (29-5%) |
| HP:0010526 | Dysgraphia | Occasional (29-5%) |
| HP:0010628 | Facial palsy | Occasional (29-5%) |
| HP:0100006 | Neoplasm of the central nervous system | Occasional (29-5%) |
| HP:0100835 | Benign neoplasm of the central nervous system | Occasional (29-5%) |
| HP:0200034 | Papule | Occasional (29-5%) |
Total: 47
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100008 | Schwannoma | 28 |
| HP:0002888 | Ependymoma | 7 |
| HP:0001067 | Neurofibromas | 6 |
| HP:0001250 | Seizures | 4 |
| HP:0002664 | Neoplasm | 3 |
| HP:0000520 | Proptosis | 2 |
| HP:0000969 | Edema | 2 |
| HP:0001297 | Stroke | 2 |
| HP:0100014 | Epiretinal membrane | 2 |
| HP:0000360 | Tinnitus | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000651 | Diplopia | 1 |
| HP:0001085 | Papilledema | 1 |
| HP:0001118 | Juvenile cataract | 1 |
| HP:0001138 | Optic neuropathy | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001618 | Dysphonia | 1 |
| HP:0001742 | Nasal obstruction | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002176 | Spinal cord compression | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002321 | Vertigo | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002861 | Melanoma | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0004099 | Macrodactyly | 1 |
| HP:0007263 | Spinocerebellar atrophy | 1 |
| HP:0007352 | Cerebellar calcifications | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0008554 | Cochlear malformation | 1 |
| HP:0009594 | Retinal hamartoma | 1 |
| HP:0009737 | Lisch nodules | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0009831 | Mononeuropathy | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030033 | Small finger | 1 |
| HP:0030430 | Neuroma | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0031501 | Pelvic mass | 1 |
| HP:0100242 | Sarcoma | 1 |
| HP:0100698 | Subcutaneous neurofibromas | 1 |
| HP:0100790 | Hernia | 1 |