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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Constitutional mismatch repair deficiency syndrome
1 OMIM reference -
4 associated genes
No signs/symptoms info
Chilblain lupus
Constitutional mismatch repair deficiency syndrome

SAMHD1
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
TREX1
(UniProt - OMIM)
 MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SAMHD1
TREX1
(0.63)
(0.62)
MSH6
MSH2


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Chilblain lupus
Constitutional mismatch repair deficiency syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CMMR-D syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
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.