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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
1 OMIM reference -
2 associated genes
36 signs/symptoms
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Lymphangioleiomyomatosis

HBA1 TSC1
HBA2 TSC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBA1
HBA2
(0.63)
(0.63)
TSC1
TSC1



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Lymphangioleiomyomatosis
TSC1 TSC2



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Lymphangioleiomyomatosis

Synonym(s):
- ATR syndrome linked to chromosome 16
- ATR syndrome, deletion type
- ATR-16 syndrome
- Alpha thalassemia - intellectual deficit syndrome, deletion type
- Alpha thalassemia - retardation syndrome

Synonym(s):
- LAM

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

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


COMMON
SIGNS
- Asthenia / fatigue / weakness
- Intellectual deficit / mental / psychomotor retardation / learning disability


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Lymphangioleiomyomatosis

Very frequent
- Hemoglobinosis / hemoglobinopathy
- Insterstitial / subtelomeric microdeletion / deletion
- Microcytic anemia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Broad forehead
- Broad nasal root
- Bruisability
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Pectus carinatum
- Short foot / brachydactyly of toes
- Short neck
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Absent / decreased / thin eyebrows
- Autosomal dominant inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis


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
- 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