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Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Neurofibromatosis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Lymphangioleiomyomatosis

Neurofibromatosis type 2

TSC1	(UniProt - OMIM)		NF2	(UniProt - OMIM)
TSC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSC1	(0.52)	NF2

Citations in the biomedical literature:

Lymphangioleiomyomatosis		Neurofibromatosis type 2
	Synonym(s): - LAM		Synonym(s): - Familial acoustic neurinoma - Familial acoustic neuroma - Familial vestibular schwannoma - NF2

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the respiratory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D018192		External references: 1 OMIM reference - 2 MeSH references: D009464 / D016518


COMMON SIGNS	- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors

Lymphangioleiomyomatosis		Neurofibromatosis type 2
	Very frequent - Anomalies of the lymphatic system - Cough - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Lung / pulmonary infiltrates - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain Frequent - Acute abdominal pain / colic - Atelectasia / pulmonary collapse - Emphysema - Hematuria / microhematuria - Lymphadenopathy / polyadenopathies - Multicystic kidney / renal dysplasia - Ungual / paraungual fibromas (fingernails) - Uterine / uterus / Fallopian tubes anomalies Occasional - Abnormal colour of the urine / cholic / dark urines - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Anomalies of eyelids, eyelashes and lacrimal system - Ascitis - Asthenia / fatigue / weakness - Fever / chilling - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemoptysis - Hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lymphedema - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Polycystic kidneys - Repeat respiratory infections - Retinal hamartoma - Seizures / epilepsy / absences / spasms / status epilepticus - Shagreen patch		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Dizziness - Sensorineural deafness / hearing loss - Tinnitus Frequent - Cataract / lens opacification - Facial pain / cephalalgia / migraine - Skin tumors / lumps / epidermal cysts Occasional - Abnormal gait - Alexia / agraphia / writing / reading troubles - Benign tumor of the brain / nervous system - Cafe-au-lait spot - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Corneal clouding / opacity / vascularisation - Cranial hypertension - Cranial nerves palsy - Facial palsy - Follicular / erythematous / edematous papules / milium - Glial tumor / glioblastoma - Meningioma - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Sensitive trouble / deficit - Subcutaneous nodules / lipomas / tumefaction / swelling