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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
Infantile regressive hypertriglyceridemia and hepatosteatosis

POMP GPD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMP
(0.63)
GPD1



Citations in the biomedical literature:


Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Infantile regressive hypertriglyceridemia and hepatosteatosis
GPD1



Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Infantile regressive hypertriglyceridemia and hepatosteatosis

Synonym(s):
- KLICK syndrome

Synonym(s):
- Infantile regressive hypertriglyceridemia and fatty liver

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
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



Infantile regressive hypertriglyceridemia and hepatosteatosis

(no data available)