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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 4
13 OMIM references -
11 associated genes
20 signs/symptoms
Richieri Costa-Pereira syndrome
Blackfan-Diamond anemia

EIF4A3 RPL11
RPL15
RPL26
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF4A3
EIF4A3
EIF4A3
(0.82)
(0.63)
(0.63)
RPS24
RPL15
RPL26



Citations in the biomedical literature:


Richieri Costa-Pereira syndrome
EIF4A3
Blackfan-Diamond anemia
RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
RPS17 RPS19 RPS24 RPS26 RPS7



Richieri Costa-Pereira syndrome
Blackfan-Diamond anemia

Synonym(s):
- Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot
- Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

Synonym(s):
- Aase syndrome
- Aase-Smith II syndrome
- Congenital PRCA
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital pure red cell aplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic 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: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535677
External references:
13 OMIM references -
1 MeSH reference: D029503


COMMON
SIGNS
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Short stature / dwarfism / nanism


Richieri Costa-Pereira syndrome
Blackfan-Diamond anemia

Very frequent
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Prominent / bat ears
- Radial club hand
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence

Frequent
- Anodontia / oligodontia / hypodontia
- Clinodactyly of fifth finger
- Facial cleft
- Glossoptosis
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- High vaulted / narrow palate
- Proximally set thumb
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly


Very frequent
- Anaemia
- Cardiac rhythm disorder / arrhythmia
- Pallor

Frequent
- Anomalies of hands
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Late puberty / hypogonadism / hypogenitalism
- Macrocytic anemia
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract

Occasional
- Acute leukemia
- Flattened nose
- Neoplasms / tumors
- Short / small nose
- Thick lips