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Superficial epidermolytic ichthyosis

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Superficial epidermolytic ichthyosis

Richieri Costa-Pereira syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT2	(0.63)	EIF4A3

Citations in the biomedical literature:

Superficial epidermolytic ichthyosis		Richieri Costa-Pereira syndrome
	Synonym(s): - Ichthyosis bullosa of Siemens - SEI		Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

	Classification (Orphanet): - Rare genetic disease - Rare skin 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: no data available Type of inheritance: autosomal dominant		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: D053560		External references: 1 OMIM reference - 1 MeSH reference: C535677

Superficial epidermolytic ichthyosis		Richieri Costa-Pereira syndrome
	Very frequent - Autosomal dominant inheritance - Cutaneous edema - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma - Positive Nikolski's sign / achantolysis - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Erythema / erythematous lesions / erythroderma / polymorphous erythema		Very frequent - Autosomal recessive inheritance - 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 - 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