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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
4 OMIM references -
13 associated genes
No signs/symptoms info
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Hereditary breast and ovarian cancer syndrome

HBA1 BARD1
HBA2 BRCA1
BRCA2
BRIP1
CHEK2
MRE11A
NBN
PALB2
PTEN
RAD50
RAD51
RAD51C
RAD51D


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
Hereditary breast and ovarian cancer syndrome
BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11A
NBN PALB2 PTEN RAD50 RAD51 RAD51C
RAD51D



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Hereditary breast and ovarian cancer syndrome

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):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease

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

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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16

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


Hereditary breast and ovarian cancer syndrome

(no data available)