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Punctate palmoplantar keratoderma type 1

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Muscle filaminopathy

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

Punctate palmoplantar keratoderma type 1

Muscle filaminopathy

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


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

Citations in the biomedical literature:

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

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

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

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

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