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Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
1 OMIM reference -
2 associated genes
63 connected diseases
33 signs/symptoms
Disease Type of connection
Autosomal dominant methemoglobinemia
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Delta-beta-thalassemia
Hemoglobin Lepore - beta-thalassemia
Beta-thalassemia intermedia
Beta-thalassemia major
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Hemoglobinopathy Toms River
Leber congenital amaurosis
Primary systemic amyloidosis
Senior-Loken syndrome
CLN10 disease
Angelman syndrome
Autoimmune lymphoproliferative syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal recessive systemic lupus erythematosus
Bannayan-Riley-Ruvalcaba syndrome
Common variable immunodeficiency
Congenital analbuminemia
Cowden syndrome
Distal renal tubular acidosis with anemia
Familial partial lipodystrophy due to AKT2 mutations
Fibronectin glomerulopathy
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary spherocytosis
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Isolated focal cortical dysplasia type IIb
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Lymphangioleiomyomatosis
Macrocephaly-autism syndrome
Pediatric systemic lupus erythematosus
Pontocerebellar hypoplasia type 1
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Southeast Asian ovalocytosis
Squamous cell carcinoma of head and neck
Tuberous sclerosis
Alpha-crystallinopathy
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
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
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HBA1 P69905141800
HBA2 P69905141850
Very frequent
- Asthenia / fatigue / weakness
- Hemoglobinosis / hemoglobinopathy
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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