ODCs

Cytoscape Web

Click node...

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
40 signs/symptoms

Richieri Costa-Pereira syndrome

Bloom syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Richieri Costa-Pereira syndrome		Bloom 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): - BSyn

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease - Rare skin 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: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535677		External references: 1 OMIM reference - 1 MeSH reference: D001816


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Prominent / bat ears - Short stature / dwarfism / nanism

Richieri Costa-Pereira syndrome		Bloom syndrome
	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 - Radial club hand - Talipes-varus / metatarsal varus - Thumb hypoplasia / aplasia / absence Frequent - 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 - Acute diarrhea - Anomalies of nose and olfaction - Anomalies of skin, subcutaneous tissue and mucosae - Chromosome breakage - Delayed bone age - Dolichocephaly / scaphocephaly - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Flat cheek bones / malar hypoplasia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Irregular / in bands / reticular skin hyperpigmentation - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Neoplasms / tumors - Repeat respiratory infections Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Face / facial anomalies - Hypoplastic mandibula / partial absence of the mandibula - Short / small nose - Skin photosensitivity - Telangiectasiae of the skin Occasional - Acute leukemia - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Digestive neoplasm / tumor / carcinoma / cancer - Hyperhidrosis / increased sweating - Ichthyosis / ichthyosiform dermatitis - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / patchy skin hypopigmentation - Lymphoma - Microcephaly - Sacral sinus / dimple - Skin tumors / lumps / epidermal cysts - Sterility / hypofertility - Syndactyly of fingers / interdigital palm - Upper limb polydactyly / hexadactyly