Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
4 associated genes
25 signs/symptoms
Apolipoprotein A-I deficiency
Pachyonychia congenita

ABCA1 KRT16
APOA1 KRT17
KRT6A
KRT6B


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Pachyonychia congenita
KRT16 KRT17 KRT6A KRT6B



Apolipoprotein A-I deficiency
Pachyonychia congenita

Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia

Synonym(s):
- PC

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance


Apolipoprotein A-I deficiency
Pachyonychia congenita

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



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