Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal recessive centronuclear myopathy

POMP BIN1
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMP
(0.63)
TTN



Citations in the biomedical literature:


Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Autosomal recessive centronuclear myopathy
BIN1 TTN



Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal recessive centronuclear myopathy

Synonym(s):
- KLICK syndrome

Synonym(s):
- AR-CNM

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Very frequent
- Autosomal dominant inheritance
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Joint / articular deformation



Autosomal recessive centronuclear myopathy

(no data available)