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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Apolipoprotein A-I deficiency
Harlequin ichthyosis

ABCA1 ABCA12
APOA1


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
Harlequin ichthyosis
ABCA12



Apolipoprotein A-I deficiency
Harlequin ichthyosis

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

Synonym(s):
- HI
- Ichthyosis congenita, harlequin type
- Ichthyosis fetalis, Harlequin type

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 / 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:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance


Apolipoprotein A-I deficiency
Harlequin ichthyosis

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
- Anomalies of ear and hearing
- Ectropion / entropion / eyelid eversion
- Flattened nose
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis
- Repeat respiratory infections

Frequent
- Anomalies of mouth, lip and philtrum
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Restricted joint mobility / joint stiffness / ankylosis
- Spindle shaped fingers

Occasional
- Auto-aggressivity / auto-mutilation
- Cataract / lens opacification
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Dehydration / hydroelectrolytic loss
- Early death / lethality
- Malignant hyperthermia
- Polydactyly of toes
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Upper limb polydactyly / hexadactyly