Neurofibromatosis, type 1
- Synonyms
- NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Peripheral type neurofibromatosis; Recklinghausen's disease; Von Recklinghausen disease
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu valgum
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Renal artery stenosis
Renal artery stenosis
- MedGen UID: 19727
- Concept ID: C0035067
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Lisch nodules
Lisch nodules
- MedGen UID: 395461
- Concept ID: C1860334
- Finding: Finding
Abnormality of the eye
- Glaucoma
- Abnormality of the integument
- Axillary freckling
Axillary freckling
- MedGen UID: 348082
- Concept ID: C1860335
- Finding: Finding
Abnormality of the integument
- Cafe au lait spots, multiple
Cafe au lait spots, multiple
- MedGen UID: 396266
- Concept ID: C1861975
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypopigmented macule
Hypopigmented macule
- MedGen UID: 760487
- Concept ID: C2047793
- Finding: Finding
Abnormality of the integument
- Inguinal freckling
Inguinal freckling
- MedGen UID: 320315
- Concept ID: C1834297
- Finding: Finding
Abnormality of the integument
- Axillary freckling
- Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Tibial pseudarthrosis
Tibial pseudarthrosis
- MedGen UID: 869786
- Concept ID: C4024216
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Macrocephaly
- Abnormality of the nervous system
- Aqueductal stenosis
Aqueductal stenosis
- MedGen UID: 75614
- Concept ID: C0266476
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Astrocytoma
Astrocytoma
- MedGen UID: 438
- Concept ID: C0004114
- Finding: Neoplastic Process
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Meningioma
Meningioma
- MedGen UID: 7532
- Concept ID: C0025286
- Finding: Neoplastic Process
Abnormality of the nervous system
- Neurofibroma
Neurofibroma
- MedGen UID: 45058
- Concept ID: C0027830
- Finding: Neoplastic Process
Abnormality of the nervous system
- Optic nerve glioma
Optic nerve glioma
- MedGen UID: 138056
- Concept ID: C0346326
- Finding: Neoplastic Process
Abnormality of the nervous system
- Plexiform neurofibroma
Plexiform neurofibroma
- MedGen UID: 64640
- Concept ID: C0206728
- Finding: Neoplastic Process
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Spina bifida
Spina bifida
- MedGen UID: 38283
- Concept ID: C0080178
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Spinal neurofibroma
Spinal neurofibroma
- MedGen UID: 869787
- Concept ID: C4024217
- Finding: Neoplastic Process
Abnormality of the nervous system
- Aqueductal stenosis
- Growth abnormality
- Overgrowth
Overgrowth
- MedGen UID: 376550
- Concept ID: C1849265
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Overgrowth
- Neoplasm
- Neurofibrosarcoma
Neurofibrosarcoma
- MedGen UID: 104927
- Concept ID: C0206729
- Finding: Neoplastic Process
Neoplasm
- Parathyroid gland adenoma
Parathyroid gland adenoma
- MedGen UID: 75502
- Concept ID: C0262587
- Finding: Neoplastic Process
Neoplasm
- Pheochromocytoma
Pheochromocytoma
- MedGen UID: 18419
- Concept ID: C0031511
- Finding: Neoplastic Process
Neoplasm
- Rhabdomyosarcoma
Rhabdomyosarcoma
- MedGen UID: 20561
- Concept ID: C0035412
- Finding: Neoplastic Process
Neoplasm
- Neurofibrosarcoma
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