Cytoscape Web
Click node...


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

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
Tuberous sclerosis
TSC1 TSC2



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Tuberous sclerosis

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):
- Bourneville syndrome
- Tuberous sclerosis complex

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D014402


COMMON
SIGNS
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Tuberous sclerosis

Very frequent
- Asthenia / fatigue / weakness
- 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
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis


Very frequent
- Adenoma sebaceum
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- EEG anomalies
- Follicular / erythematous / edematous papules / milium
- Pedunculated skin lesions
- Prominent occiput / occipital bossing

Frequent
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Irregular / patchy skin hypopigmentation
- Macules
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / behavioural troubles
- Retinal hamartoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Ungual / paraungual fibromas (fingernails)
- Ungual / parungual fibromas (toenails)

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arterial aneurism (excluding aorta)
- Cardiac rhythm disorder / arrhythmia
- Coloboma of iris
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial hypertension
- Emphysema
- Enamel anomaly
- Gingivitis
- Heart / cardiac failure
- Heart / cardiac tumor
- Hypothyroidy
- Intracranial / cerebral calcifications
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Polycystic kidneys
- Precocious puberty
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas
- Structural anomalies of the respiratory system and diaphragm
- Visceral angiomatosis (excluding skin)