ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Punctate palmoplantar keratoderma type 1

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

AAGAB	(UniProt - OMIM)		APP	(UniProt - OMIM)
COL14A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL14A1	(0.56)	APP

Citations in the biomedical literature:

Punctate palmoplantar keratoderma type 1		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): - Buschke-Fischer-Brauer syndrome - Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type - PPKP1		Synonym(s): - HCHWA, Dutch type - HCHWA-D

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243

Punctate palmoplantar keratoderma type 1		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	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		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Early death / lethality