ODCs

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2p21 microdeletion syndrome

1 OMIM reference -
4 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

2p21 microdeletion syndrome

Richieri Costa-Pereira syndrome

CAMKMT	(UniProt - OMIM)	EIF4A3	(UniProt - OMIM)
PPM1B	(UniProt - OMIM)
PREPL	(UniProt - OMIM)
SLC3A1	(UniProt - OMIM)


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

Citations in the biomedical literature:

2p21 microdeletion syndrome		Richieri Costa-Pereira syndrome
	Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21		Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535677


COMMON SIGNS	- Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Low set ears / posteriorly rotated ears

2p21 microdeletion syndrome		Richieri Costa-Pereira syndrome
	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		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