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1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
17 signs/symptoms
Epidermolysis bullosa simplex with pyloric atresia
Ehlers-Danlos syndrome with periventricular heterotopia

ITGB4 FLNA
PLEC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGB4
(0.56)
FLNA



Citations in the biomedical literature:


Epidermolysis bullosa simplex with pyloric atresia
ITGB4 PLEC
Ehlers-Danlos syndrome with periventricular heterotopia
FLNA



Epidermolysis bullosa simplex with pyloric atresia
Ehlers-Danlos syndrome with periventricular heterotopia

Synonym(s):
- EBS-PA

Synonym(s):
- EDS with periventricular heterotopia

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Epidermolysis bullosa simplex with pyloric atresia
Ehlers-Danlos syndrome with periventricular heterotopia

Very frequent
- Autosomal recessive inheritance
- Polyhydramnios
- Prematurity
- Stomach / gastric anomaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Anaemia
- Anomalies of nose and olfaction
- Dehydration / hydroelectrolytic loss
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Restricted joint mobility / joint stiffness / ankylosis
- Sepsis severe / septicemia

Occasional
- Early death / lethality


Very frequent
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Scoliosis
- X-linked dominant inheritance

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patent ductus arteriosus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomalies of the nervous system
- Thin skin

Occasional
- Aortic root dilatation / dilation / aneurysm
- Patella dislocation
- Shoulder dislocation