ODCs

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Pachyonychia congenita

3 OMIM references -
4 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 2

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

Pachyonychia congenita

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

KRT16	(UniProt - OMIM)	AKT3	(UniProt - OMIM)
KRT17	(UniProt - OMIM)	PIK3R2	(UniProt - OMIM)
KRT6A	(UniProt - OMIM)
KRT6B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT16 KRT17	(0.63) (0.63)	PIK3R2 PIK3R2

Citations in the biomedical literature:

Pachyonychia congenita		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Synonym(s): - PC		Synonym(s): - MPPH syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic

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

Pachyonychia congenita		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	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		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication