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Distal 17p13.3 microdeletion syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Lymphangioleiomyomatosis
1 OMIM reference -
2 associated genes
36 signs/symptoms
Distal 17p13.3 microdeletion syndrome
Lymphangioleiomyomatosis

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

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


Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
Lymphangioleiomyomatosis
TSC1 TSC2



Distal 17p13.3 microdeletion syndrome
Lymphangioleiomyomatosis

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- LAM
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the respiratory system -
Epidemiological data:
(no data available)
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


Distal 17p13.3 microdeletion syndrome

(no data available)