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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2
18 OMIM references -
18 associated genes
16 signs/symptoms
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Leber congenital amaurosis

HBA1 AIPL1
HBA2 CEP290
CRB1
CRX
GDF6
GUCY2D
IMPDH1
IQCB1
KCNJ13
LCA5
LRAT
NMNAT1
RD3
RDH12
RPE65
RPGRIP1
SPATA7
TULP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBA1
HBA2
(0.72)
(0.72)
IQCB1
IQCB1



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Leber congenital amaurosis
AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
IMPDH1 IQCB1 KCNJ13 LCA5 LRAT NMNAT1
RD3 RDH12 RPE65 RPGRIP1 SPATA7 TULP1



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Leber congenital amaurosis

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):
- Amaurosis congenita of Leber

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

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

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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
18 OMIM references -
1 MeSH reference: D057130


COMMON
SIGNS
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Leber congenital amaurosis

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
- 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
- Autosomal recessive inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal ERG / electroretinogram / electroretinography
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Encephalocele / exencephaly
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Keratoconus / keratoglobus
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Hearing loss / hypoacusia / deafness