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Lymphangioleiomyomatosis
1 OMIM reference -
2 associated genes
57 connected diseases
36 signs/symptoms
Disease Type of connection
Tuberous sclerosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Isolated focal cortical dysplasia type IIb
Cowden syndrome
Proteus syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Isolated megalencephaly
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Estrogen resistance syndrome
Familial thoracic aortic aneurysm and aortic dissection
Angelman syndrome
Distal 22q11.2 microdeletion syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Alveolar rhabdomyosarcoma
Catecholaminergic polymorphic ventricular tachycardia
B-cell chronic lymphocytic leukemia
Mantle cell lymphoma
Multiple myeloma
Aneurysm - osteoarthritis syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Capillary malformation - arteriovenous malformation
Developmental malformations - deafness - dystonia
FTH1-related iron overload
Hb Bart's hydrops fetalis
Hemoglobin H disease
Moyamoya disease
Parkes Weber syndrome
Senior-Loken syndrome
Short rib-polydactyly syndrome, Majewski type
Spinocerebellar ataxia type 1
Translocation renal cell carcinoma
Berardinelli-Seip congenital lipodystrophy
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Diffuse cutaneous systemic sclerosis
Hemimegalencephaly
Heritable pulmonary arterial hypertension
Intermediate nemaline myopathy
Limited cutaneous systemic sclerosis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Severe congenital nemaline myopathy
Typical nemaline myopathy
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Neurofibromatosis type 2
Neurofibromatosis type 3
Pulverulent cataract
Synonym(s):
- LAM
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Diseases of the respiratory system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D018192
Gene symbol UniProt reference OMIM reference
TSC1 Q92574605284
TSC2 P49815191092
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
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- 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