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Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
1 OMIM reference -
1 associated gene
21 connected diseases
4 signs/symptoms
Disease Type of connection
Familial isolated dilated cardiomyopathy
CANDLE syndrome
JMP syndrome
Nakajo-Nishimura syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal recessive centronuclear myopathy
Autosomal recessive limb girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Hereditary proximal myopathy with early respiratory failure
Infantile regressive hypertriglyceridemia and hepatosteatosis
SSR4-CDG
Spinocerebellar ataxia type 1
Split hand-split foot malformation
Tibial muscular dystrophy
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Intellectual deficit, X-linked, Nascimento type
Synonym(s):
- KLICK syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
POMP Q9Y244613386
Very frequent
- Autosomal dominant inheritance
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Joint / articular deformation