Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1155 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.2%)		 24103673
 Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.
Manjila S, Miller BR, Rao-Frisch A, Otvos B, Mitchell A, Bambakidis NC, De Georgia MA.
J Stroke Cerebrovasc Dis. 2014;23(5):1242-4.
Micrognathia Small finger
NF1
Asymptomatic Diseases Cerebral Angiography Cerebral Hemorrhage Females Homo sapiens Middle Aged Mosaicism Moyamoya Disease Subarachnoid Hemorrhage Turner Syndrome X-Ray Computed Tomography
2
(57.8%)		 21532985
(3084038)
 Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.
Quintans B, Pardo J, Campos B, Barros F, Volpini V, Carracedo A, Sobrido MJ.
Case Rep Neurol. 2011;3:86-90.
Macrocephaly Micrognathia
NF1
c|DEL|2970_2972|AAT;RS#:267606606 rs1555614455 rs267606606
3
(52.2%)		 11952554
 Epidermodysplasia verruciformis associated with neurofibromatosis type 1: coincidental association or model for understanding the underlying mechanism of the disease?
Alpsoy E, Ciftcioglu MA, Keser I, De Villiers EM, Zouboulis CC.
Br J Dermatol. 2002;146(3):503-7.
Tibial bowing Lisch nodules
NF1
Adult Bowen's Disease Chromosomes, Human, Pair 17 DNA, Viral Epidermodysplasia Verruciformis Genetic Predisposition to Disease Homo sapiens Male Neurofibromatosis 1 Papillomaviridae Skin Neoplasms
4
(51.7%)		 24217084
 Pseudoarthrosis of the hand in neurofibromatosis type 1: a case report.
ncecik F, Herguner MO, Ball T, Altunbasak .
Turk J Pediatr. 2013;55(3):335-6.
Pseudoarthrosis Lisch nodules
NF1
Homo sapiens Male Neurofibromatosis 1 Pseudarthrosis
5
(50.5%)		 20687928
(2924852)
 Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.
Melean G, Hernandez AM, Valero MC, Hernandez-Imaz E, Martin Y, Hernandez-Chico C.
BMC Cancer. 2010;10:407.
Macrocephaly Tibial pseudarthrosis
NF1
Adult Genotype Homo sapiens Lung Neoplasms Male Mutation Nerve Sheath Tumors Neurofibromatosis 1 Neurofibromatosis Type 1 Protein Phenotype Polymerase Chain Reaction
6
(49.7%)		 14556247
 Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?
Colby RS, Saul RA.
Am J Med Genet A. 2003;123A(1):60-3.
Lisch nodules Femur fracture
NF1
Cafe-au-Lait Spots Differential Diagnosis Females Homo sapiens Male Neurofibromatosis 1 Syndrome
7
(47.9%)		 27173220
 NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1.
Su SY, Zhou X, Pang XM, Chen CY, Li SH, Liu JL.
Genet Mol Res. 2016;15(2):.
Talipes Lisch nodules
NF1
c|DEL|6520_6523|GAGA
Bone and Bones Exons Homo sapiens Male Neurofibromatosis 1 Neurofibromatosis Type 1 Protein
8
(46.8%)		 22870550
 Mandibular abnormalities in a patient with neurofibromatosis type 1.
Rawal YB, Rosebush MS, Rawal SY, Anderson KM.
J Tenn Dent Assoc. 2012;92(1):29-31; quiz 32-3.
Abnormality of the mandible Lisch nodules
NF1
Homo sapiens Jaw Abnormalities Male Mandible Mandibular Neoplasms Nerve Sheath Tumors Neurofibromatosis 1 Young Adult
9
(45.7%)		 17712739
 Progressive unilateral hemispheric atrophy in an infant with neurofibromatosis.
Wintermark P, Meagher-Villemure K, Villemure JG, Maeder-Ingvar M, Maeder P, Ghariani S, Roulet-Perez E.
Neuropediatrics. 2007;38(2):100-4.
Seizure Hemiatrophy
NF1
Brain Cerebrovascular Disorders Females Homo sapiens Infant Neurofibromatosis 1
10
(41.5%)		 21232201
 [Morpho-functional iterative surgery in a patient with von Recklinghausen disease].
Perrotta R, Tarico MS, Virzi D, Manzo G, Curreri S.
G Chir. 2010;31(11-12):543-8.
Scoliosis Lisch nodules
NF1
Buttocks Females Homo sapiens Neurofibromatosis 1 Reconstructive Surgical Procedures Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 69

HPO ID Term Frequency
HP:0000707 Abnormality of the nervous system Very frequent (99-80%)
HP:0000823 Delayed puberty Very frequent (99-80%)
HP:0000995 Melanocytic nevus Very frequent (99-80%)
HP:0001012 Multiple lipomas Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0002858 Meningioma Very frequent (99-80%)
HP:0007440 Generalized hyperpigmentation Very frequent (99-80%)
HP:0007565 Multiple cafe-au-lait spots Very frequent (99-80%)
HP:0008069 Neoplasm of the skin Very frequent (99-80%)
HP:0009592 Astrocytoma Very frequent (99-80%)
HP:0009732 Plexiform neurofibroma Very frequent (99-80%)
HP:0009737 Lisch nodules Very frequent (99-80%)
HP:0012733 Macule Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000098 Tall stature Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000478 Abnormality of the eye Frequent (79-30%)
HP:0000504 Abnormality of vision Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0001100 Heterochromia iridis Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001480 Freckling Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002315 Headache Frequent (79-30%)
HP:0002354 Memory impairment Frequent (79-30%)
HP:0002652 Skeletal dysplasia Frequent (79-30%)
HP:0002757 Recurrent fractures Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0003100 Slender long bone Frequent (79-30%)
HP:0003401 Paresthesia Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000492 Abnormal eyelid morphology Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000505 Visual impairment Occasional (29-5%)
HP:0000512 Abnormal electroretinogram Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000567 Chorioretinal coloboma Occasional (29-5%)
HP:0000818 Abnormality of the endocrine system Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0000826 Precocious puberty Occasional (29-5%)
HP:0000924 Abnormality of the skeletal system Occasional (29-5%)
HP:0001053 Hypopigmented skin patches Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001909 Leukemia Occasional (29-5%)
HP:0002086 Abnormality of the respiratory system Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002664 Neoplasm Occasional (29-5%)
HP:0002666 Pheochromocytoma Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0002970 Genu varum Occasional (29-5%)
HP:0003272 Abnormality of the hip bone Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0005506 Chronic myelogenous leukemia Occasional (29-5%)
HP:0007378 Neoplasm of the gastrointestinal tract Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)
HP:0007957 Corneal opacity Occasional (29-5%)
HP:0009735 Spinal neurofibromas Occasional (29-5%)
HP:0010786 Urinary tract neoplasm Occasional (29-5%)
HP:0010935 Abnormality of the upper urinary tract Occasional (29-5%)
HP:0011362 Abnormal hair quantity Occasional (29-5%)
HP:0100242 Sarcoma Occasional (29-5%)
HP:0100545 Arterial stenosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 228

HPO ID Term # of case reports
HP:0001067 Neurofibromas 106
HP:0000957 Cafe-au-lait spot 45
HP:0002666 Pheochromocytoma 31
HP:0002664 Neoplasm 25
HP:0009737 Lisch nodules 25
HP:0000822 Hypertension 19
HP:0002435 Meningocele 18
HP:0012733 Macule 14
HP:0004947 Arteriovenous fistula 13
HP:0100008 Schwannoma 13
HP:0001480 Freckling 12
HP:0002027 Abdominal pain 10
HP:0002861 Melanoma 9
HP:0100242 Sarcoma 9
HP:0001297 Stroke 8
HP:0002315 Headache 8
HP:0000997 Axillary freckling 7
HP:0002650 Scoliosis 7
HP:0012151 Hemothorax 7
HP:0000238 Hydrocephalus 6
HP:0001909 Leukemia 6
HP:0002094 Dyspnea 6
HP:0002668 Paraganglioma 6
HP:0010566 Hamartoma 6
HP:0025151 Ganglioneuromatosis 6
HP:0031625 Pseudoaneurysm 6
HP:0000843 Hyperparathyroidism 5
HP:0001920 Renal artery stenosis 5
HP:0002751 Kyphoscoliosis 5
HP:0012735 Cough 5
HP:0000572 Visual loss 4
HP:0001250 Seizures 4
HP:0001482 Subcutaneous nodule 4
HP:0001824 Weight loss 4
HP:0007565 Multiple cafe-au-lait spots 4
HP:0008443 Spinal deformities 4
HP:0100775 Dural ectasia 4
HP:0000520 Proptosis 3
HP:0000952 Jaundice 3
HP:0001251 Ataxia 3
HP:0001271 Polyneuropathy 3
HP:0001903 Anemia 3
HP:0001945 Fever 3
HP:0002138 Subarachnoid hemorrhage 3
HP:0002176 Spinal cord compression 3
HP:0005864 Pseudoarthrosis 3
HP:0008200 Primary hyperparathyroidism 3
HP:0031501 Pelvic mass 3
HP:0032252 Granuloma 3
HP:0100026 Arteriovenous malformation 3
HP:0100279 Ulcerative colitis 3
HP:0100570 Carcinoid tumor 3
HP:0100698 Subcutaneous neurofibromas 3
HP:0000085 Horseshoe kidney 2
HP:0000324 Facial asymmetry 2
HP:0000508 Ptosis 2
HP:0000939 Osteoporosis 2
HP:0001269 Hemiparesis 2
HP:0001324 Muscle weakness 2
HP:0002013 Vomiting 2
HP:0002014 Diarrhea 2
HP:0002015 Dysphagia 2
HP:0002039 Anorexia 2
HP:0002170 Intracranial hemorrhage 2
HP:0002171 Gliosis 2
HP:0002196 Myelopathy 2
HP:0002326 Transient ischemic attack 2
HP:0002410 Aqueductal stenosis 2
HP:0002588 Duodenal ulcer 2
HP:0002652 Skeletal dysplasia 2
HP:0002749 Osteomalacia 2
HP:0002860 Squamous cell carcinoma 2
HP:0004398 Peptic ulcer 2
HP:0006748 Adrenal pheochromocytoma 2
HP:0009735 Spinal neurofibromas 2
HP:0012056 Cutaneous melanoma 2
HP:0012089 Arteritis 2
HP:0025615 Abscess 2
HP:0030426 Ossifying fibroma 2
HP:0030731 Carcinoma 2
HP:0031273 Shock 2
HP:0031500 Abdominal mass 2
HP:0032408 Breast lump 2
HP:0100749 Chest pain 2
HP:0000097 Focal segmental glomerulosclerosis 1
HP:0000098 Tall stature 1
HP:0000126 Hydronephrosis 1
HP:0000256 Macrocephaly 1
HP:0000486 Strabismus 1
HP:0000529 Progressive visual loss 1
HP:0000545 Myopia 1
HP:0000565 Esotropia 1
HP:0000618 Blindness 1
HP:0000651 Diplopia 1
HP:0000717 Autism 1
HP:0000739 Anxiety 1
HP:0000786 Primary amenorrhea 1
HP:0000819 Diabetes mellitus 1
HP:0000823 Delayed puberty 1
HP:0000836 Hyperthyroidism 1
HP:0000839 Pituitary dwarfism 1
HP:0000846 Adrenal insufficiency 1
HP:0000872 Hashimoto thyroiditis 1
HP:0000951 Abnormality of the skin 1
HP:0000995 Melanocytic nevus 1
HP:0001028 Hemangioma 1
HP:0001031 Subcutaneous lipoma 1
HP:0001045 Vitiligo 1
HP:0001048 Cavernous hemangioma 1
HP:0001058 Poor wound healing 1
HP:0001059 Pterygium 1
HP:0001257 Spasticity 1
HP:0001288 Gait disturbance 1
HP:0001289 Confusion 1
HP:0001332 Dystonia 1
HP:0001334 Communicating hydrocephalus 1
HP:0001374 Congenital hip dislocation 1
HP:0001433 Hepatosplenomegaly 1
HP:0001513 Obesity 1
HP:0001528 Hemihypertrophy 1
HP:0001638 Cardiomyopathy 1
HP:0001649 Tachycardia 1
HP:0001659 Aortic regurgitation 1
HP:0001678 Atrioventricular block 1
HP:0001680 Coarctation of aorta 1
HP:0001698 Pericardial effusion 1
HP:0001701 Pericarditis 1
HP:0001891 Iron deficiency anemia 1
HP:0001962 Palpitations 1
HP:0002017 Nausea and vomiting 1
HP:0002018 Nausea 1
HP:0002019 Constipation 1
HP:0002024 Malabsorption 1
HP:0002093 Respiratory insufficiency 1
HP:0002140 Ischemic stroke 1
HP:0002148 Hypophosphatemia 1
HP:0002156 Homocystinuria 1
HP:0002204 Pulmonary embolism 1
HP:0002249 Melena 1
HP:0002273 Tetraparesis 1
HP:0002277 Horner syndrome 1
HP:0002290 Poliosis 1
HP:0002321 Vertigo 1
HP:0002385 Paraparesis 1
HP:0002444 Hypothalamic hamartoma 1
HP:0002488 Acute leukemia 1
HP:0002539 Cortical dysplasia 1
HP:0002573 Hematochezia 1
HP:0002617 Dilatation 1
HP:0002791 Hypoventilation 1
HP:0002808 Kyphosis 1
HP:0002827 Hip dislocation 1
HP:0002840 Lymphadenitis 1
HP:0002888 Ependymoma 1
HP:0002897 Parathyroid adenoma 1
HP:0002943 Thoracic scoliosis 1
HP:0002947 Cervical kyphosis 1
HP:0003201 Rhabdomyolysis 1
HP:0003418 Back pain 1
HP:0003419 Low back pain 1
HP:0003552 Muscle stiffness 1
HP:0003764 Nevus 1
HP:0004099 Macrodactyly 1
HP:0004322 Short stature 1
HP:0004390 Hamartomatous polyposis 1
HP:0004936 Venous thrombosis 1
HP:0004942 Aortic aneurysm 1
HP:0005214 Intestinal obstruction 1
HP:0005523 Lymphoproliferative disorder 1
HP:0005659 Thoracic kyphoscoliosis 1
HP:0006771 Duodenal adenocarcinoma 1
HP:0006888 Meningoencephalocele 1
HP:0007018 Attention deficit hyperactivity disorder 1
HP:0007293 Anterior sacral meningocele 1
HP:0008462 Cervical instability 1
HP:0009792 Teratoma 1
HP:0010301 Spinal dysraphism 1
HP:0010307 Stridor 1
HP:0010550 Paraplegia 1
HP:0010628 Facial palsy 1
HP:0011458 Abdominal symptom 1
HP:0011497 Iris neovascularization 1
HP:0011781 Thyroid C cell hyperplasia 1
HP:0012109 Angle closure glaucoma 1
HP:0012115 Hepatitis 1
HP:0012315 Histiocytoma 1
HP:0012318 Occipital neuralgia 1
HP:0012450 Chronic constipation 1
HP:0012578 Membranous nephropathy 1
HP:0012593 Nephrotic range proteinuria 1
HP:0012819 Myocarditis 1
HP:0020038 Vertebrobasilar dolichoectasia 1
HP:0025143 Chills 1
HP:0025268 Stuttering 1
HP:0025324 Arterial occlusion 1
HP:0025355 Retinal arterial macroaneurysms 1
HP:0025388 Thyroid nodule 1
HP:0030043 Hip subluxation 1
HP:0030052 Inguinal freckling 1
HP:0030065 Primitive neuroectodermal tumor 1
HP:0030149 Cardiogenic shock 1
HP:0030166 Night sweats 1
HP:0030405 Pancreatic endocrine tumor 1
HP:0030412 Ileal adenocarcinoma 1
HP:0030430 Neuroma 1
HP:0030833 Neck pain 1
HP:0030834 Shoulder pain 1
HP:0030837 Finger pain 1
HP:0030882 Coronary artery aneurysm 1
HP:0031274 Hypovolemic shock 1
HP:0031499 Appendiceal mucinous neoplasm 1
HP:0031649 Aortic rupture 1
HP:0031655 Quadricuspid aortic valve 1
HP:0031673 Orthodromic atrioventricular reentrant tachycardia 1
HP:0031730 Axial myopia 1
HP:0031925 Rosette 1
HP:0031929 Perivascular pseudorosette 1
HP:0031930 Neurocytic rosette 1
HP:0032043 Odynophagia 1
HP:0040049 Macular edema 1
HP:0100543 Cognitive impairment 1
HP:0100556 Hemiatrophy 1
HP:0100646 Thyroiditis 1
HP:0100758 Gangrene 1
HP:0100817 Renovascular hypertension 1
HP:0200026 Ocular pain 1
HP:0200042 Skin ulcer 1
HP:0410019 Epigastric pain 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID