Meningioma

A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3484 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(61.5%)		 17972300
 The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.
Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH.
Am J Med Genet A. 2008;146A(1):83-92.
Short philtrum Scoliosis Epiphyseal dysplasia Short palpebral fissure
Adult Child Females Genes, Dominant Homo sapiens Male Meningeal Neoplasms Meningioma Phenotype Syndrome
2
(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
3
(54.9%)		 2118782
 Intracranial angioblastic meningioma and an aged appearance in a woman with Rubinstein-Taybi syndrome.
Bilir BM, Bilir N, Wilson GN.
Am J Med Genet Suppl. 1990;6:69-72.
Prominent nose Broad thumb
ADD2
Adult Aging Brain Neoplasms Females Hemangiosarcoma Homo sapiens Rubinstein-Taybi Syndrome
4
(51.6%)		 8560989
 Suprasellar meningioma with expression of glial fibrillary acidic protein: a peculiar variant.
Wanschitz J, Schmidbauer M, Maier H, Rossler K, Vorkapic P, Budka H.
Acta Neuropathol. 1995;90(5):539-44.
Short finger
GFAP S100A1 VIM
Adult Females Glial Fibrillary Acidic Protein Homo sapiens Immunohistochemistry Meningeal Neoplasms Meningioma
5
(49.9%)		 18709310
 Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.
Happle R, Tinschert S.
Acta Derm Venereol. 2008;88(4):382-7.
Hypodontia Cervical ribs Polydactyly
Adult Hamartoma Homo sapiens Leg Length Inequality Male Mouth Abnormalities Polydactyly Syndrome Tooth Abnormalities
6
(45.7%)		 11358015
 Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.
Kopniczky Z, Kobor J, Maraz A, Vajtai I.
Pathol Res Pract. 2001;197(4):279-84.
Seizure Hemiatrophy
Astrocytoma Child Epilepsy Females Glial Fibrillary Acidic Protein Hamartoma Homo sapiens Immunohistochemistry Sebaceous Gland Neoplasms Sebaceous Glands Supratentorial Neoplasms Syndrome
6
(45.7%)		 11077384
 Oral ulcerations as the first sign of a foramen magnum meningioma.
Barnadas MA, Escartin A, Alomar A.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;90(5):609-11.
Fasciculations Hemiatrophy
Cranial Nerve Neoplasms Differential Diagnosis Females Homo sapiens Magnetic Resonance Imaging Meningeal Neoplasms Meningioma Oral Ulcer Skull Base Neoplasms Tongue Diseases
6
(45.7%)		 6526851
 CT demonstration of hemiatrophy and fatty replacement of the tongue.
Dion JE, Fox AJ, Pelz D, Vinuela F.
J Can Assoc Radiol. 1984;35(4):395-6.
Hemiatrophy
Females Homo sapiens Meningioma Middle Aged Tongue Tongue Diseases X-Ray Computed Tomography
9
(42.7%)		 51912
 [Trismus, trigeminal motor dyssynergy with brain stem lesions (author's transl)].
Jelasic F, Freitag V.
J Neurol. 1975;209(4):287-96.
Trismus
Adult Brain Stem Cerebellar Neoplasms Electromyography Females Homo sapiens Male Meningioma Middle Aged Muscle Contraction Neural Inhibition Tonsillar Neoplasms Trismus
10
(42.2%)		 17685054
 Case report: olfactory loss and unrelated chronic rhinosinusitis.
Claes G, Claes J.
B-ENT. 2007;3(2):101-4.
Hyposmia Chronic sinusitis
Adult Differential Diagnosis Ethmoid Sinusitis Females Follow-Up Studies Homo sapiens Magnetic Resonance Imaging Olfaction Disorders Rhinitis X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 74

HPO ID Term Frequency
HP:0010997 Chromosomal breakage induced by ionizing radiation Very frequent (99-80%)
HP:0011133 Increased sensitivity to ionizing radiation Very frequent (99-80%)
HP:0100009 Intracranial meningioma Very frequent (99-80%)
HP:0000044 Hypogonadotrophic hypogonadism Frequent (79-30%)
HP:0000141 Amenorrhea Frequent (79-30%)
HP:0000802 Impotence Frequent (79-30%)
HP:0000870 Prolactin excess Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002017 Nausea and vomiting Frequent (79-30%)
HP:0002315 Headache Frequent (79-30%)
HP:0002920 Decreased circulating ACTH level Frequent (79-30%)
HP:0007359 Focal-onset seizure Frequent (79-30%)
HP:0008163 Decreased circulating cortisol level Frequent (79-30%)
HP:0008214 Decreased serum estradiol Frequent (79-30%)
HP:0008230 obsolete Decreased testosterone in males Frequent (79-30%)
HP:0008240 Secondary growth hormone deficiency Frequent (79-30%)
HP:0008245 Pituitary hypothyroidism Frequent (79-30%)
HP:0012658 Abnormal brain FDG positron emission tomography Frequent (79-30%)
HP:0012691 Focal T2 hypointense thalamic lesion Frequent (79-30%)
HP:0030341 Decreased circulating follicle stimulating hormone level Frequent (79-30%)
HP:0030344 Decreased circulating luteinizing hormone level Frequent (79-30%)
HP:0030521 Bitemporal hemianopia Frequent (79-30%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000602 Ophthalmoplegia Occasional (29-5%)
HP:0001067 Neurofibromas Occasional (29-5%)
HP:0001085 Papilledema Occasional (29-5%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001269 Hemiparesis Occasional (29-5%)
HP:0001317 Abnormal cerebellum morphology Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0002354 Memory impairment Occasional (29-5%)
HP:0002355 Difficulty walking Occasional (29-5%)
HP:0002516 Increased intracranial pressure Occasional (29-5%)
HP:0003484 Upper limb muscle weakness Occasional (29-5%)
HP:0004302 Functional motor deficit Occasional (29-5%)
HP:0004408 Abnormality of the sense of smell Occasional (29-5%)
HP:0006824 Cranial nerve paralysis Occasional (29-5%)
HP:0007340 Lower limb muscle weakness Occasional (29-5%)
HP:0007715 Weak extraocular muscles Occasional (29-5%)
HP:0007924 Slow decrease in visual acuity Occasional (29-5%)
HP:0008202 Prolactin deficiency Occasional (29-5%)
HP:0008237 Hypothalamic hypothyroidism Occasional (29-5%)
HP:0010628 Facial palsy Occasional (29-5%)
HP:0011442 Abnormality of central motor function Occasional (29-5%)
HP:0011730 Abnormality of central sensory function Occasional (29-5%)
HP:0011750 Neoplasm of the anterior pituitary Occasional (29-5%)
HP:0012246 Oculomotor nerve palsy Occasional (29-5%)
HP:0012285 Abnormal hypothalamus physiology Occasional (29-5%)
HP:0012505 Enlarged pituitary gland Occasional (29-5%)
HP:0030532 Visual acuity test abnormality Occasional (29-5%)
HP:0030591 Abnormal kinetic perimetry test Occasional (29-5%)
HP:0100010 Spinal meningioma Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)
HP:0100661 Trigeminal neuralgia Occasional (29-5%)
HP:0000020 Urinary incontinence Very rare (4-1%)
HP:0000360 Tinnitus Very rare (4-1%)
HP:0000520 Proptosis Very rare (4-1%)
HP:0000618 Blindness Very rare (4-1%)
HP:0000712 Emotional lability Very rare (4-1%)
HP:0001262 Excessive daytime somnolence Very rare (4-1%)
HP:0001279 Syncope Very rare (4-1%)
HP:0001342 Cerebral hemorrhage Very rare (4-1%)
HP:0002167 Neurological speech impairment Very rare (4-1%)
HP:0002512 Brain stem compression Very rare (4-1%)
HP:0003418 Back pain Very rare (4-1%)
HP:0006520 Progressive pulmonary function impairment Very rare (4-1%)
HP:0008069 Neoplasm of the skin Very rare (4-1%)
HP:0010534 Transient global amnesia Very rare (4-1%)
HP:0010828 Hemifacial spasm Very rare (4-1%)
HP:0011752 Neoplasm of the posterior pituitary Very rare (4-1%)
HP:0030766 Ear pain Very rare (4-1%)
HP:0030878 Abnormality on pulmonary function testing Very rare (4-1%)
HP:0045026 Abnormality of the mediastinum Very rare (4-1%)
HP:0100648 Neoplasm of the tongue Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 404

HPO ID Term # of case reports
HP:0002664 Neoplasm 176
HP:0100008 Schwannoma 134
HP:0030731 Carcinoma 118
HP:0002315 Headache 79
HP:0001250 Seizures 56
HP:0000969 Edema 51
HP:0100242 Sarcoma 48
HP:0002888 Ependymoma 46
HP:0002861 Melanoma 38
HP:0100774 Hyperostosis 33
HP:0100026 Arteriovenous malformation 32
HP:0032252 Granuloma 31
HP:0032268 Dural tail sign 31
HP:0000572 Visual loss 30
HP:0002835 Aspiration 27
HP:0003002 Breast carcinoma 25
HP:0000238 Hydrocephalus 24
HP:0000520 Proptosis 23
HP:0001028 Hemangioma 23
HP:0001048 Cavernous hemangioma 20
HP:0001138 Optic neuropathy 20
HP:0001269 Hemiparesis 20
HP:0001067 Neurofibromas 19
HP:0002668 Paraganglioma 18
HP:0000718 Aggressive behavior 17
HP:0002138 Subarachnoid hemorrhage 17
HP:0200040 Epidermoid cyst 17
HP:0004947 Arteriovenous fistula 16
HP:0002170 Intracranial hemorrhage 15
HP:0012032 Lipoma 15
HP:0012125 Prostate cancer 14
HP:0025615 Abscess 13
HP:0002516 Increased intracranial pressure 12
HP:0002671 Basal cell carcinoma 12
HP:0012315 Histiocytoma 12
HP:0001085 Papilledema 11
HP:0001287 Meningitis 11
HP:0002176 Spinal cord compression 11
HP:0002860 Squamous cell carcinoma 11
HP:0009792 Teratoma 11
HP:0000360 Tinnitus 10
HP:0000618 Blindness 10
HP:0000822 Hypertension 10
HP:0000651 Diplopia 9
HP:0001289 Confusion 9
HP:0001300 Parkinsonism 9
HP:0002435 Meningocele 9
HP:0030431 Osteochondroma 9
HP:0000529 Progressive visual loss 8
HP:0001909 Leukemia 8
HP:0009797 Cholesteatoma 8
HP:0010302 Spinal cord tumor 8
HP:0030065 Primitive neuroectodermal tumor 8
HP:0100620 Germinoma 8
HP:0000421 Epistaxis 7
HP:0000501 Glaucoma 7
HP:0000505 Visual impairment 7
HP:0001251 Ataxia 7
HP:0001297 Stroke 7
HP:0001945 Fever 7
HP:0002181 Cerebral edema 7
HP:0002321 Vertigo 7
HP:0002381 Aphasia 7
HP:0010615 Angiofibromas 7
HP:0030430 Neuroma 7
HP:0000388 Otitis media 6
HP:0000508 Ptosis 6
HP:0000648 Optic atrophy 6
HP:0001903 Anemia 6
HP:0002076 Migraine 6
HP:0002084 Encephalocele 6
HP:0002615 Hypotension 6
HP:0025637 Vasospasm 6
HP:0030746 Intraventricular hemorrhage 6
HP:0100653 Optic neuritis 6
HP:0000739 Anxiety 5
HP:0001943 Hypoglycemia 5
HP:0002013 Vomiting 5
HP:0002015 Dysphagia 5
HP:0002196 Myelopathy 5
HP:0002385 Paraparesis 5
HP:0002617 Dilatation 5
HP:0002797 Osteolysis 5
HP:0002897 Parathyroid adenoma 5
HP:0003470 Paralysis 5
HP:0005306 Capillary hemangioma 5
HP:0010534 Transient global amnesia 5
HP:0012246 Oculomotor nerve palsy 5
HP:0012636 Retinal vein occlusion 5
HP:0012740 Papilloma 5
HP:0030064 Neurocytoma 5
HP:0030078 Lung adenocarcinoma 5
HP:0030426 Ossifying fibroma 5
HP:0031417 Rhinorrhea 5
HP:0100246 Osteoma 5
HP:0100570 Carcinoid tumor 5
HP:0100727 Histiocytosis 5
HP:0000726 Dementia 4
HP:0000789 Infertility 4
HP:0001123 Visual field defect 4
HP:0001978 Extramedullary hematopoiesis 4
HP:0002017 Nausea and vomiting 4
HP:0002326 Transient ischemic attack 4
HP:0002512 Brain stem compression 4
HP:0002666 Pheochromocytoma 4
HP:0002754 Osteomyelitis 4
HP:0003401 Paresthesia 4
HP:0003764 Nevus 4
HP:0004490 Calvarial hyperostosis 4
HP:0010550 Paraplegia 4
HP:0010614 Fibroma 4
HP:0012199 Cluster headache 4
HP:0030049 Brain abscess 4
HP:0030433 Osteoid osteoma 4
HP:0031625 Pseudoaneurysm 4
HP:0040075 Hypopituitarism 4
HP:0100543 Cognitive impairment 4
HP:0000246 Sinusitis 3
HP:0000389 Chronic otitis media 3
HP:0000458 Anosmia 3
HP:0000738 Hallucinations 3
HP:0000751 Personality changes 3
HP:0001260 Dysarthria 3
HP:0001298 Encephalopathy 3
HP:0001332 Dystonia 3
HP:0001482 Subcutaneous nodule 3
HP:0001742 Nasal obstruction 3
HP:0002027 Abdominal pain 3
HP:0002039 Anorexia 3
HP:0002171 Gliosis 3
HP:0002301 Hemiplegia 3
HP:0002317 Unsteady gait 3
HP:0002716 Lymphadenopathy 3
HP:0002721 Immunodeficiency 3
HP:0003003 Colon cancer 3
HP:0007807 Optic nerve compression 3
HP:0010566 Hamartoma 3
HP:0010628 Facial palsy 3
HP:0012721 Venous malformation 3
HP:0030531 Altitudinal visual field defect 3
HP:0100006 Neoplasm of the central nervous system 3
HP:0100309 Subdural hemorrhage 3
HP:0100598 Pulmonary edema 3
HP:0100753 Schizophrenia 3
HP:0100814 Blue nevus 3
HP:0000020 Urinary incontinence 2
HP:0000100 Nephrotic syndrome 2
HP:0000141 Amenorrhea 2
HP:0000488 Retinopathy 2
HP:0000518 Cataract 2
HP:0000602 Ophthalmoplegia 2
HP:0000746 Delusions 2
HP:0000786 Primary amenorrhea 2
HP:0000854 Thyroid adenoma 2
HP:0000939 Osteoporosis 2
HP:0001118 Juvenile cataract 2
HP:0001249 Intellectual disability 2
HP:0001279 Syncope 2
HP:0001288 Gait disturbance 2
HP:0001548 Overgrowth 2
HP:0001662 Bradycardia 2
HP:0002069 Generalized tonic-clonic seizures 2
HP:0002140 Ischemic stroke 2
HP:0002141 Gait imbalance 2
HP:0002204 Pulmonary embolism 2
HP:0002318 Cervical myelopathy 2
HP:0002390 Spinal arteriovenous malformation 2
HP:0002488 Acute leukemia 2
HP:0002527 Falls 2
HP:0003418 Back pain 2
HP:0003419 Low back pain 2
HP:0004936 Venous thrombosis 2
HP:0005521 Disseminated intravascular coagulation 2
HP:0005523 Lymphoproliferative disorder 2
HP:0008629 Pulsatile tinnitus 2
HP:0010523 Alexia 2
HP:0010799 Pinealoma 2
HP:0011349 Abducens palsy 2
HP:0011510 Drusen 2
HP:0011774 Thyroid follicular adenoma 2
HP:0011868 Sciatica 2
HP:0011951 Aspiration pneumonia 2
HP:0012330 Pyelonephritis 2
HP:0012377 Hemianopia 2
HP:0012398 Peripheral edema 2
HP:0012426 Optic disc drusen 2
HP:0012474 Carotid artery occlusion 2
HP:0012486 Myelitis 2
HP:0012505 Enlarged pituitary gland 2
HP:0012534 Dysesthesia 2
HP:0025269 Panic attack 2
HP:0030393 Endolymphatic sac tumor 2
HP:0030432 Chondroblastoma 2
HP:0031002 Neuritis 2
HP:0031157 Carotid cavernous fistula 2
HP:0031273 Shock 2
HP:0031773 Posterior communicating artery aneurysm 2
HP:0031864 Bacteremia 2
HP:0031925 Rosette 2
HP:0031929 Perivascular pseudorosette 2
HP:0032070 Leptomeningeal enhancement 2
HP:0040197 Encephalomalacia 2
HP:0100001 Malignant mesothelioma 2
HP:0100561 Spinal cord lesion 2
HP:0100749 Chest pain 2
HP:0100790 Hernia 2
HP:0100829 Galactorrhea 2
HP:0000099 Glomerulonephritis 1
HP:0000103 Polyuria 1
HP:0000112 Nephropathy 1
HP:0000211 Trismus 1
HP:0000256 Macrocephaly 1
HP:0000316 Hypertelorism 1
HP:0000317 Facial myokymia 1
HP:0000365 Hearing impairment 1
HP:0000473 Torticollis 1
HP:0000483 Astigmatism 1
HP:0000541 Retinal detachment 1
HP:0000543 Optic disc pallor 1
HP:0000544 External ophthalmoplegia 1
HP:0000565 Esotropia 1
HP:0000597 Ophthalmoparesis 1
HP:0000622 Blurred vision 1
HP:0000668 Hypodontia 1
HP:0000712 Emotional lability 1
HP:0000763 Sensory neuropathy 1
HP:0000790 Hematuria 1
HP:0000819 Diabetes mellitus 1
HP:0000821 Hypothyroidism 1
HP:0000843 Hyperparathyroidism 1
HP:0000873 Diabetes insipidus 1
HP:0000891 Cervical ribs 1
HP:0000980 Pallor 1
HP:0000995 Melanocytic nevus 1
HP:0000998 Hypertrichosis 1
HP:0001031 Subcutaneous lipoma 1
HP:0001050 Plethora 1
HP:0001061 Acne 1
HP:0001271 Polyneuropathy 1
HP:0001334 Communicating hydrocephalus 1
HP:0001342 Cerebral hemorrhage 1
HP:0001369 Arthritis 1
HP:0001370 Rheumatoid arthritis 1
HP:0001508 Failure to thrive 1
HP:0001528 Hemihypertrophy 1
HP:0001541 Ascites 1
HP:0001649 Tachycardia 1
HP:0001650 Aortic valve stenosis 1
HP:0001695 Cardiac arrest 1
HP:0001700 Myocardial necrosis 1
HP:0001744 Splenomegaly 1
HP:0001876 Pancytopenia 1
HP:0001878 Hemolytic anemia 1
HP:0001907 Thromboembolism 1
HP:0001935 Microcytic anemia 1
HP:0001946 Ketosis 1
HP:0001959 Polydipsia 1
HP:0002045 Hypothermia 1
HP:0002059 Cerebral atrophy 1
HP:0002063 Rigidity 1
HP:0002067 Bradykinesia 1
HP:0002073 Progressive cerebellar ataxia 1
HP:0002077 Migraine with aura 1
HP:0002078 Truncal ataxia 1
HP:0002090 Pneumonia 1
HP:0002097 Emphysema 1
HP:0002105 Hemoptysis 1
HP:0002133 Status epilepticus 1
HP:0002144 Tethered cord 1
HP:0002153 Hyperkalemia 1
HP:0002186 Apraxia 1
HP:0002202 Pleural effusion 1
HP:0002273 Tetraparesis 1
HP:0002277 Horner syndrome 1
HP:0002282 Gray matter heterotopia 1
HP:0002300 Mutism 1
HP:0002322 Resting tremor 1
HP:0002329 Drowsiness 1
HP:0002354 Memory impairment 1
HP:0002356 Writer's cramp 1
HP:0002360 Sleep disturbance 1
HP:0002367 Visual hallucinations 1
HP:0002411 Myokymia 1
HP:0002442 Dyscalculia 1
HP:0002451 Limb dystonia 1
HP:0002580 Volvulus 1
HP:0002621 Atherosclerosis 1
HP:0002637 Cerebral ischemia 1
HP:0002647 Aortic dissection 1
HP:0002878 Respiratory failure 1
HP:0002902 Hyponatremia 1
HP:0002955 Granulomatosis 1
HP:0002961 Dysgammaglobulinemia 1
HP:0003072 Hypercalcemia 1
HP:0003074 Hyperglycemia 1
HP:0003077 Hyperlipidemia 1
HP:0003319 Abnormality of the cervical spine 1
HP:0003416 Spinal canal stenosis 1
HP:0004322 Short stature 1
HP:0004373 Focal dystonia 1
HP:0004409 Hyposmia 1
HP:0004437 Cranial hyperostosis 1
HP:0004942 Aortic aneurysm 1
HP:0005110 Atrial fibrillation 1
HP:0005526 Lymphoid leukemia 1
HP:0005758 Basilar impression 1
HP:0005978 Type II diabetes mellitus 1
HP:0006748 Adrenal pheochromocytoma 1
HP:0006824 Cranial nerve paralysis 1
HP:0006882 Severe hydrocephalus 1
HP:0006888 Meningoencephalocele 1
HP:0006934 Congenital nystagmus 1
HP:0006946 Recurrent meningitis 1
HP:0007185 Loss of consciousness 1
HP:0007565 Multiple cafe-au-lait spots 1
HP:0007824 Total ophthalmoplegia 1
HP:0007935 Juvenile posterior subcapsular lenticular opacities 1
HP:0007987 Progressive visual field defects 1
HP:0008200 Primary hyperparathyroidism 1
HP:0008208 Parathyroid hyperplasia 1
HP:0008256 Adrenocortical adenoma 1
HP:0008480 Cervical spondylosis 1
HP:0008729 Absence of labia majora 1
HP:0009110 Diaphragmatic eventration 1
HP:0009730 Rhabdomyoma 1
HP:0009735 Spinal neurofibromas 1
HP:0009763 Limb pain 1
HP:0009830 Peripheral neuropathy 1
HP:0010442 Polydactyly 1
HP:0010524 Agnosia 1
HP:0010532 Paroxysmal vertigo 1
HP:0010617 Cardiac fibroma 1
HP:0010741 Pedal edema 1
HP:0011002 Osteopetrosis 1
HP:0011003 High myopia 1
HP:0011695 Cerebellar hemorrhage 1
HP:0012056 Cutaneous melanoma 1
HP:0012077 Histrionic personality disorder 1
HP:0012089 Arteritis 1
HP:0012151 Hemothorax 1
HP:0012226 Ovarian teratoma 1
HP:0012231 Exudative retinal detachment 1
HP:0012324 Myeloid leukemia 1
HP:0012366 Basilar invagination 1
HP:0012432 Chronic fatigue 1
HP:0012672 Akinetic mutism 1
HP:0020110 Bone fracture 1
HP:0025247 Dermoid cyst 1
HP:0025268 Stuttering 1
HP:0025277 Gustatory sweating 1
HP:0025289 Cervical lymphadenopathy 1
HP:0025322 Venous occlusion 1
HP:0025324 Arterial occlusion 1
HP:0025584 Hypotropia 1
HP:0030038 Enchondroma 1
HP:0030048 Colpocephaly 1
HP:0030071 Medulloepithelioma 1
HP:0030074 Chemodectoma 1
HP:0030127 Endometriosis 1
HP:0030445 Pulmonary carcinoid tumor 1
HP:0030521 Bitemporal hemianopia 1
HP:0030833 Neck pain 1
HP:0030838 Hip pain 1
HP:0030998 Cerebrospinal fluid rhinorrhoea 1
HP:0031111 Cutaneous hamartoma 1
HP:0031207 Hepatic hemangioma 1
HP:0031258 Delirium 1
HP:0031433 Alexithymia 1
HP:0031492 Epithelial neoplasm 1
HP:0031944 Pleural thickening 1
HP:0032046 Focal cortical dysplasia 1
HP:0032061 Hypereosinophilia 1
HP:0032159 Fungal meningitis 1
HP:0040141 Tardive dyskinesia 1
HP:0040165 Periostitis 1
HP:0040194 Increased head circumference 1
HP:0040236 Hyperfibrinolysis 1
HP:0040276 Adenocarcinoma of the colon 1
HP:0100003 Peritoneal mesothelioma 1
HP:0100014 Epiretinal membrane 1
HP:0100019 Cortical cataract 1
HP:0100310 Epidural hemorrhage 1
HP:0100315 Lewy bodies 1
HP:0100320 Rosenthal fibres 1
HP:0100523 Liver abscess 1
HP:0100532 Scleritis 1
HP:0100537 Fasciitis 1
HP:0100546 Carotid artery stenosis 1
HP:0100556 Hemiatrophy 1
HP:0100576 Amaurosis fugax 1
HP:0100584 Endocarditis 1
HP:0100601 Eclampsia 1
HP:0100614 Myositis 1
HP:0100654 Retrobulbar optic neuritis 1
HP:0100698 Subcutaneous neurofibromas 1
HP:0100699 Scarring 1
HP:0100724 Hypercoagulability 1
HP:0100754 Mania 1
HP:0100768 Choriocarcinoma 1
HP:0100775 Dural ectasia 1
HP:0100835 Benign neoplasm of the central nervous system 1
HP:0200026 Ocular pain 1
HP:0200042 Skin ulcer 1
HP:0200133 Lumbosacral meningocele 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598
PDGFB platelet derived growth factor subunit B 5155
SUFU SUFU negative regulator of hedgehog signaling 51684
NF2 neurofibromin 2 4771