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Lymphangioleiomyomatosis

1 OMIM reference -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Miller-Dieker syndrome

1 OMIM reference -
3 associated genes
18 signs/symptoms

Lymphangioleiomyomatosis

Miller-Dieker syndrome

TSC1	(UniProt - OMIM)		HIC1	(UniProt - OMIM)
TSC2	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSC2 TSC1	(0.81) (0.76)	YWHAE YWHAE

Citations in the biomedical literature:

Lymphangioleiomyomatosis		Miller-Dieker syndrome
	Synonym(s): - LAM		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

	Classification (Orphanet): - Rare genetic disease - Rare respiratory disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D018192		External references: 1 OMIM reference - 1 MeSH reference: D054221


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

Lymphangioleiomyomatosis		Miller-Dieker syndrome
	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 - Shagreen patch		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Anteverted nares / nostrils - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - Short / small nose Frequent - Polyhydramnios - Structural anomalies of the cardio-circulatory system Occasional - Ataxia / incoordination / trouble of the equilibrium - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple