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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
No signs/symptoms info
Familial cylindromatosis
Constitutional mismatch repair deficiency syndrome

CYLD MLH1
MSH2
MSH6
PMS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYLD
(0.72)
PMS2



Citations in the biomedical literature:


Familial cylindromatosis
CYLD
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Familial cylindromatosis
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- Turban tumor syndrome

Synonym(s):
- CMMR-D syndrome

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

Classification (ICD10):
(no data available)
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:
1 OMIM reference -
1 MeSH reference: C536611
External references:
1 OMIM reference -
No MeSH references

Familial cylindromatosis

Very frequent
- Autosomal dominant inheritance
- Scalp cyst / giant nevus
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of the skin



Constitutional mismatch repair deficiency syndrome

(no data available)