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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
14 signs/symptoms
Pulverulent cataract
Epidermolysis bullosa simplex with pyloric atresia

CRYBB1 ITGB4
CRYGC PLEC
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
VIM
(0.78)
(0.52)
PLEC
ITGB4



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Epidermolysis bullosa simplex with pyloric atresia
ITGB4 PLEC



Pulverulent cataract
Epidermolysis bullosa simplex with pyloric atresia

Synonym(s):
- Dusty cataract

Synonym(s):
- EBS-PA

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Epidermolysis bullosa simplex with pyloric atresia

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


Pulverulent cataract

(no data available)