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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

HBA1 PTEN
HBA2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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):
- SOLAMEN syndrome

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 genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Talipes-varus / metatarsal varus


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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
- 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
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)