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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Epidermolysis bullosa simplex with muscular dystrophy

ISG15 PLEC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.63)
PLEC



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Epidermolysis bullosa simplex with muscular dystrophy
PLEC



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Epidermolysis bullosa simplex with muscular dystrophy

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- EBS-MD
- Limb girdle dystrophy with epidermolysis bullosa simplex

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Epidermolysis bullosa simplex with muscular dystrophy

Very frequent
- Alopecia
- Autosomal recessive inheritance
- Muscle weakness / flaccidity
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic / hyperconvex fingernails
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Ptosis
- Skin hypoplasia / aplasia / atrophy

Occasional
- Asthenia / fatigue / weakness
- Myasthenia


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)