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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
39 OMIM references -
38 associated genes
13 signs/symptoms
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Familial isolated dilated cardiomyopathy

HBA1 ABCC9
HBA2 ACTC1
ACTN2
BAG3
CRYAB
CSRP3
DES
DMD
DOLK
DSG2
FHL2
FKTN
GATAD1
LAMA4
LDB3
MYBPC3
MYH6
MYH7
MYPN
NEXN
PLN
PRDM16
PSEN1
PSEN2
RBM20
SCN5A
SDHA
SGCD
TAZ
TCAP
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
TXNRD2
VCL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HBA1
HBA2
(0.56)
(0.56)
CRYAB
CRYAB



Citations in the biomedical literature:


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
HBA1 HBA2
Familial isolated dilated cardiomyopathy
ABCC9 ACTC1 ACTN2 BAG3 CRYAB CSRP3
DES DMD DOLK DSG2 FHL2 FKTN
GATAD1 LAMA4 LDB3 MYBPC3 MYH6 MYH7
MYPN NEXN PLN PRDM16 PSEN1 PSEN2
RBM20 SCN5A SDHA SGCD TAZ TCAP
TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
TXNRD2 VCL



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Familial isolated dilated cardiomyopathy

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):
- Familial or idiopathic dilated cardiomyopathy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac 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 circulatory system -

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: any age
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Familial isolated dilated cardiomyopathy

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
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis


Very frequent
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Lipoatrophy
- Myopathy
- Palmoplantar hyperkeratosis / keratoderma
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sensorineural deafness / hearing loss
- Stillbirth / neonatal death
- X-linked dominant inheritance
- X-linked recessive inheritance