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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
37 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Weaver syndrome

PLEC EZH2
NSD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.63)
EZH2



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Weaver syndrome
EZH2 NSD1



Epidermolysis bullosa simplex, Ogna type
Weaver syndrome

Synonym(s):
- EBS-O

Synonym(s):
- Camptodactyly - overgrowth - unusual facies

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
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 dominant

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
1 OMIM reference -
1 MeSH reference: C536687


COMMON
SIGNS
- Autosomal dominant inheritance


Epidermolysis bullosa simplex, Ogna type
Weaver syndrome

Very frequent
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Advanced bone age
- Broad forehead
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Long / large ear
- Loose skin / skin relaxation / excess skin / creases
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Tall stature / gigantism / growth acceleration
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails

Frequent
- Broad foot
- Broad / bifid thumb
- Camptodactyly of fingers
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Inguinal / inguinoscrotal / crural hernia
- Large hand
- Philtrum deeply grooved
- Restricted joint mobility / joint stiffness / ankylosis
- Round face

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Micropenis / small penis / agenesis
- Pes cavus
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes