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

HBA1 HBB
HBA2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBA1
HBA2
(0.96)
(0.96)
HBB
HBB



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Beta-thalassemia major
HBB



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Beta-thalassemia major

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):
- Cooley anemia
- Mediterranean anemia

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Beta-thalassemia major

Very frequent
- Asthenia / fatigue / weakness
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- Anaemia
- Autosomal recessive inheritance
- Hypersplenism
- Pallor

Frequent
- Anomalies of teeth and dentition
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Depressed nasal bridge
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Genu valgum
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperferritinemia / iron overload
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Muscle weakness / flaccidity
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Prominent premaxillary region / midface
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Abnormal hepatic enzymes / transaminases
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Anomalies of chest / thorax / trunk
- Articular / joint pain / arthralgia
- Bone marrow failure / pancytopenia
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cirrhosis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Cortico-adrenal hypoplasia / insufficiency
- Diabetes mellitus
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hearing loss / hypoacusia / deafness
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hypoparathyroidy
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypothyroidy
- Mild visual loss / impaired visual acuity
- Night blindness / hemeralopia
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis