ODCs

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Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

Tuberous sclerosis

2 OMIM references -
2 associated genes
44 signs/symptoms

Lymphangioleiomyomatosis

Tuberous sclerosis

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


COMMON GENES	TSC1 TSC2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSC1	(0.97)	TSC2

Citations in the biomedical literature:

Lymphangioleiomyomatosis		Tuberous sclerosis
	Synonym(s): - LAM		Synonym(s): - Bourneville syndrome - Tuberous sclerosis complex

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin 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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D018192		External references: 2 OMIM references - 1 MeSH reference: D014402


COMMON SIGNS	- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Emphysema - Intellectual deficit / mental / psychomotor retardation / learning disability - Kidney / renal neoplasm / tumor / carcinoma / cancer - Macules - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Polycystic kidneys - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Retinal hamartoma - Seizures / epilepsy / absences / spasms / status epilepticus - Ungual / paraungual fibromas (fingernails)

Lymphangioleiomyomatosis		Tuberous sclerosis
	Very frequent - Anomalies of the lymphatic system - Cough - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Lung / pulmonary infiltrates - Thoracic / chest pain Frequent - Acute abdominal pain / colic - Atelectasia / pulmonary collapse - Hematuria / microhematuria - Lymphadenopathy / polyadenopathies - Multicystic kidney / renal dysplasia - Uterine / uterus / Fallopian tubes anomalies Occasional - Abnormal colour of the urine / cholic / dark urines - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of eyelids, eyelashes and lacrimal system - Ascitis - Asthenia / fatigue / weakness - Fever / chilling - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemoptysis - Hydrocephaly - Lymphedema - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Repeat respiratory infections - Shagreen patch		Very frequent - Adenoma sebaceum - Autosomal dominant inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - EEG anomalies - Follicular / erythematous / edematous papules / milium - Pedunculated skin lesions - Prominent occiput / occipital bossing Frequent - Cafe-au-lait spot - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Irregular / patchy skin hypopigmentation - Psychic / behavioural troubles - Subcutaneous nodules / lipomas / tumefaction / swelling - Ungual / parungual fibromas (toenails) Occasional - Arterial aneurism (excluding aorta) - Cardiac rhythm disorder / arrhythmia - Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - Cranial hypertension - Enamel anomaly - Gingivitis - Heart / cardiac failure - Heart / cardiac tumor - Hypothyroidy - Intracranial / cerebral calcifications - Lymphangioma / lymphatic malformations - Macrodactyly / fingers hypertrophy / megalodactyly (hand) - Precocious puberty - Renal failure - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas - Structural anomalies of the respiratory system and diaphragm - Visceral angiomatosis (excluding skin)