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Pachyonychia congenita

3 OMIM references -
4 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

Pachyonychia congenita

Incontinentia pigmenti

KRT16	(UniProt - OMIM)		IKBKG	(UniProt - OMIM)
KRT17	(UniProt - OMIM)
KRT6A	(UniProt - OMIM)
KRT6B	(UniProt - OMIM)


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

Citations in the biomedical literature:

Pachyonychia congenita		Incontinentia pigmenti
	Synonym(s): - PC		Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant

	External references: 3 OMIM references - 1 MeSH reference: D053549		External references: 1 OMIM reference - 1 MeSH reference: D007184


COMMON SIGNS	- Abnormal fingernails - Absent / small fingernails / anonychia of hands - Alopecia - Cataract / lens opacification - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hair and scalp anomalies - Hyperhidrosis / increased sweating - Intellectual deficit / mental / psychomotor retardation / learning disability - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Pachyonychia congenita		Incontinentia pigmenti
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Autosomal dominant inheritance - Enanthema / aphtosa / aphta / leukoplakia - Palmoplantar hyperkeratosis / keratoderma Frequent - Anomalies of teeth and dentition - Ichthyosis / ichthyosiform dermatitis - Multiple caries - Skin tumors / lumps / epidermal cysts Occasional - Autosomal recessive inheritance - Corneal dystrophy - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anodontia / oligodontia / hypodontia - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Telangiectasiae of the skin - Warts / papillomas - X-linked dominant inheritance Frequent - Abnormal gait - Anomalies of ear and hearing - Anomalies of hands - Anomalies of the ribs - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft lip and palate - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Complete claw hand / camptodactyly of all fingers - Corneal clouding / opacity / vascularisation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Eosinophils anomalies / hypereosinophilia - Hyperactivity / attention deficit - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Osteolysis / osteoclasia / bone destruction / erosions - Scoliosis - Short stature / dwarfism / nanism - Strabismus / squint - Supernumerary nipples / polythelia - Tooth shape anomaly - Visual loss / blindness / amblyopia Occasional - Abnormal toenails - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Blue sclerae - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Enamel anomaly - Encephalitis - Hand agenesis / absence - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Motor deficit / trouble - Pulmonary hypertension - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Retinal / chorioretinal dysplasia / dystrophy - Seizures / epilepsy / absences / spasms / status epilepticus - Spina bifida occulta - Syndactyly of fingers / interdigital palm - Transient cerebral ischemia / stroke - Umbilical hernia