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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
4 associated genes
18 signs/symptoms
Richieri Costa-Pereira syndrome
2p21 microdeletion syndrome

EIF4A3 CAMKMT
PPM1B
PREPL
SLC3A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF4A3
(0.63)
PPM1B



Citations in the biomedical literature:


Richieri Costa-Pereira syndrome
EIF4A3
2p21 microdeletion syndrome
CAMKMT PPM1B PREPL SLC3A1



Richieri Costa-Pereira syndrome
2p21 microdeletion syndrome

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

Synonym(s):
- 2p21 deletion
- Del(2)(p21)
- Monosomy 2p21

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 renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Low set ears / posteriorly rotated ears


Richieri Costa-Pereira syndrome
2p21 microdeletion syndrome

Very frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- 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
- 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
- Aminoacid metabolism anomalies / aminoaciduria
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long / thick / curved lashes / trichomegaly / polytrichia
- Respiratory chain / mitochondrial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hypocalcemia
- Organic acid metabolism anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Fetal immobility / abnormal fetal movements
- Hypoglycemia