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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Chilblain lupus
Autosomal recessive limb-girdle muscular dystrophy type 2B

SAMHD1 DYSF
TREX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SAMHD1
(0.63)
DYSF



Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF



Chilblain lupus
Autosomal recessive limb-girdle muscular dystrophy type 2B

Synonym(s):
(no synonyms)

Synonym(s):
- LGMD2B
- Limb-girdle muscular dystrophy due to dysferlin deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C535924
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.