ODCs

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Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Beta-thalassemia major

1 OMIM reference -
1 associated gene
48 signs/symptoms

Richieri Costa-Pereira syndrome

Beta-thalassemia major

EIF4A3

(UniProt - OMIM)

HBB

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EIF4A3	(0.63)	HBB

Citations in the biomedical literature:

Richieri Costa-Pereira syndrome		Beta-thalassemia major
	Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot		Synonym(s): - Cooley anemia - Mediterranean anemia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535677		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Richieri Costa-Pereira syndrome		Beta-thalassemia major
	Very frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Prominent / bat ears - Radial club hand - Short stature / dwarfism / nanism - Talipes-varus / metatarsal varus - Thumb hypoplasia / aplasia / absence Frequent - Anodontia / oligodontia / hypodontia - Clinodactyly of fifth finger - Facial cleft - Failure to thrive / difficulties for feeding in infancy / growth delay - Glossoptosis - Metacarpal anomalies / Archibald's sign - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray Occasional - High vaulted / narrow palate - Proximally set thumb - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly		Very frequent - Anaemia - Hemoglobinosis / hemoglobinopathy - Hypersplenism - Microcytic anemia - Pallor Frequent - Anomalies of teeth and dentition - Biliary / gallbladder stones / lithiasis / cholecystitis - Depressed nasal bridge - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Fever / chilling - Genu valgum - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperferritinemia / iron overload - Late puberty / hypogonadism / hypogenitalism - Malabsorption / chronic diarrhea / steatorrhea - Muscle weakness / flaccidity - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Prominent premaxillary region / midface - Skull / cranial anomalies - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Abnormal hepatic enzymes / transaminases - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Anomalies of chest / thorax / trunk - Articular / joint pain / arthralgia - Bone marrow failure / pancytopenia - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Cirrhosis - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Cortico-adrenal hypoplasia / insufficiency - Diabetes mellitus - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hearing loss / hypoacusia / deafness - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Hypoparathyroidy - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypothyroidy - Mild visual loss / impaired visual acuity - Night blindness / hemeralopia - Pulmonary hypertension - Venous thrombosis / phlebitis / thrombophlebitis