ODCs

Click node...

3 OMIM references -
4 associated genes
25 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
4 signs/symptoms

Pachyonychia congenita

Sebocystomatosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT6A	(0.63)	KRT17

Citations in the biomedical literature:

Pachyonychia congenita		Sebocystomatosis
	Synonym(s): - PC		Synonym(s): - Steatocystoma multiplex

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D053549		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Skin tumors / lumps / epidermal cysts

Pachyonychia congenita		Sebocystomatosis
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enanthema / aphtosa / aphta / leukoplakia - Hair and scalp anomalies - Hyperhidrosis / increased sweating - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Frequent - Absent / small fingernails / anonychia of hands - Anomalies of teeth and dentition - Ichthyosis / ichthyosiform dermatitis - Multiple caries - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Abnormal fingernails - Alopecia - Autosomal recessive inheritance - Cataract / lens opacification - Corneal dystrophy - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction		Very frequent - Adenoma sebaceum Occasional - Urinary / renal lithiasis / kidney stones / nephritic colic