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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
36 signs/symptoms
Severe congenital nemaline myopathy
Lymphangioleiomyomatosis

ACTA1 TSC1
KLHL40 TSC2
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.55)
TSC1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Lymphangioleiomyomatosis
TSC1 TSC2



Severe congenital nemaline myopathy
Lymphangioleiomyomatosis

Synonym(s):
(no synonyms)

Synonym(s):
- LAM

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the respiratory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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

Lymphangioleiomyomatosis

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


Severe congenital nemaline myopathy

(no data available)