ODCs

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Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Lymphangioleiomyomatosis

Developmental malformations - deafness - dystonia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSC1	(0.63)	ACTB

Citations in the biomedical literature:

Lymphangioleiomyomatosis		Developmental malformations - deafness - dystonia
	Synonym(s): - LAM		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

	External references: 1 OMIM reference - 1 MeSH reference: D018192		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Lymphangioleiomyomatosis		Developmental malformations - deafness - dystonia
	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 - 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 - Autosomal dominant inheritance - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia