ODCs

Click node...

3 OMIM references -
4 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

Pachyonychia congenita

Apolipoprotein A-I deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT16	(0.72)	APOA1

Citations in the biomedical literature:

Pachyonychia congenita		Apolipoprotein A-I deficiency
	Synonym(s): - PC		Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D053549		External references: 1 OMIM reference - 1 MeSH reference: D052456


COMMON SIGNS	- Autosomal recessive inheritance

Pachyonychia congenita		Apolipoprotein A-I deficiency
	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 - 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		Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anaemia - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatitis / icterus / cholestasis - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Splenomegaly - Storage liver disease