ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Naxos disease

B4GALT1-CDG

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.49)	B4GALT1

Citations in the biomedical literature:

Naxos disease		B4GALT1-CDG
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - Beta-1,4-galactosyltransferase deficiency - CDG syndrome type IId - CDG-IId - CDG2D - Carbohydrate deficient glycoprotein syndrome type IId - Congenital disorder of glycosylation type 2d - Congenital disorder of glycosylation type IId

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hepatic 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: no data available 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 - 1 MeSH reference: C538346		External references: 1 OMIM reference - No MeSH references

Naxos disease		B4GALT1-CDG
	Very frequent - Abnormal hair texture / hair dysplasia - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Dandy-Walker anomaly - Hydrocephaly - Hypotonia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Myopathy