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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
6 OMIM references -
7 associated genes
14 signs/symptoms
Apolipoprotein A-I deficiency
Congenital non-bullous ichthyosiform erythroderma

ABCA1 ABCA12
APOA1 ALOX12B
ALOXE3
CERS3
NIPAL4
PNPLA1
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCA1
(0.65)
ABCA12



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
TGM1



Apolipoprotein A-I deficiency
Congenital non-bullous ichthyosiform erythroderma

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

Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
6 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance


Apolipoprotein A-I deficiency
Congenital non-bullous ichthyosiform erythroderma

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
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Ichthyosis / ichthyosiform dermatitis
- Pruritus / itching

Frequent
- Alopecia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism