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1 OMIM reference -
2 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 8
1 OMIM reference -
1 associated gene
55 signs/symptoms
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Bannayan-Riley-Ruvalcaba syndrome

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
Bannayan-Riley-Ruvalcaba syndrome
PTEN



Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Bannayan-Riley-Ruvalcaba 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):
- BRRS
- Myhre-Riley-Smith syndrome
- Syndrome de Myhre-Rikey-Smith

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic 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):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Bannayan-Riley-Ruvalcaba syndrome

Very frequent
- Asthenia / fatigue / weakness
- Hemoglobinosis / hemoglobinopathy
- Insterstitial / subtelomeric microdeletion / deletion
- Microcytic anemia

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
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Pectus carinatum
- Short foot / brachydactyly of toes
- Short neck
- 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
- Hypospadias / epispadias / bent penis


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Breast neoplasm / tumor / carcinoma / cancer
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Irregular / in bands / reticular skin hyperpigmentation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Polyposis of the bowel / colon / intestine
- Visceral angiomatosis (excluding skin)
- Xanthomas / lipomas

Frequent
- Mucosal / cutaneous hemorrhage
- Pectus excavatum
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Anteverted nares / nostrils
- Aortic dilatation / dilation
- Broad nose / nasal bridge
- Broad / bifid thumb
- Cafe-au-lait spot
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Cutis marmorata / marbled skin / livedo
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Early death / lethality
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hypoglycemia
- Intracranial / cerebral / meningeal hemorrhage
- Long philtrum
- Long / large ear
- Lymphedema
- Lymphoma
- Meningioma
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myopathy
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- Tall stature / gigantism / growth acceleration
- Telangiectasiae of the skin
- Thyroid neoplasm / tumor / carcinoma / cancer
- Thyroiditis
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy