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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Tibial muscular dystrophy

POMP 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
Tibial muscular dystrophy
TTN



Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Tibial muscular dystrophy

Synonym(s):
- KLICK syndrome

Synonym(s):
- Distal myopathy, Udd type
- Distal titinopathy
- TMD
- Udd myopathy

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536815

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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

Frequent
- Joint / articular deformation



Tibial muscular dystrophy

(no data available)