ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Glycogen storage disease due to muscle glycogen phosphorylase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	POMP	(0.63)	PYGM

Citations in the biomedical literature:

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Synonym(s): - KLICK syndrome		Synonym(s): - GSD due to muscle glycogen phosphorylase deficiency - GSD type 5 - Glycogen storage disease type 5 - Glycogenosis due to muscle glycogen phosphorylase deficiency - Glycogenosis type 5 - McArdle disease - Myophosphorylase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537276 / D006012

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Very frequent - Autosomal dominant inheritance - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma Frequent - Joint / articular deformation		Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance Frequent - Myopathy Occasional - Renal failure - Structural anomalies of the cardio-circulatory system