ODCs

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3 OMIM references -
4 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 4

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

Pachyonychia congenita

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT16 KRT17 KRT6A KRT6B	(0.63) (0.63) (0.63) (0.63)	CBL CBL CBL CBL

Citations in the biomedical literature:

Pachyonychia congenita		Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
	Synonym(s): - PC		Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Pachyonychia congenita
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Autosomal dominant inheritance - 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 - Skin tumors / lumps / epidermal cysts - 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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)