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Muscle filaminopathy

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Punctate palmoplantar keratoderma type 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Muscle filaminopathy

Punctate palmoplantar keratoderma type 1

FLNC	(UniProt - OMIM)		AAGAB	(UniProt - OMIM)
			COL14A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNC	(0.63)	COL14A1

Citations in the biomedical literature:

Muscle filaminopathy		Punctate palmoplantar keratoderma type 1
	Synonym(s): (no synonyms)		Synonym(s): - Buschke-Fischer-Brauer syndrome - Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type - PPKP1

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Punctate palmoplantar keratoderma type 1
	Very frequent - Autosomal dominant inheritance - Palmoplantar hyperkeratosis / keratoderma Frequent - Breast neoplasm / tumor / carcinoma / cancer - Colon neoplasm / tumor / carcinoma / cancer - Kidney / renal neoplasm / tumor / carcinoma / cancer - Lymphoma - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer Occasional - Nails anomalies
Muscle filaminopathy
(no data available)