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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
1 OMIM reference -
2 associated genes
17 signs/symptoms
Richieri Costa-Pereira syndrome
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

EIF4A3 KRT14
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF4A3
EIF4A3
(0.72)
(0.63)
KRT14
KRT5



Citations in the biomedical literature:


Richieri Costa-Pereira syndrome
EIF4A3
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
KRT14 KRT5



Richieri Costa-Pereira syndrome
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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

Synonym(s):
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Generalized EBS, non-Dowling-Meara type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535677
External references:
1 OMIM reference -
1 MeSH reference: C535961


COMMON
SIGNS
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Richieri Costa-Pereira syndrome
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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
- 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

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


Very frequent
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Palmoplantar hyperkeratosis / keratoderma
- Ptosis
- Respiratory rhythm disorder

Occasional
- Myasthenia