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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Apolipoprotein A-I deficiency
Ichthyosis hystrix of Curth-Macklin

ABCA1 KRT1
APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA1
(0.72)
KRT1



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Ichthyosis hystrix of Curth-Macklin
KRT1



Apolipoprotein A-I deficiency
Ichthyosis hystrix of Curth-Macklin

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

Synonym(s):
- Ichthyosis hystrix, Curth-Macklin 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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
1 OMIM reference -
1 MeSH reference: C536088

Apolipoprotein A-I deficiency
Ichthyosis hystrix of Curth-Macklin

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anaemia
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatitis / icterus / cholestasis
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Lymphadenopathy / polyadenopathies
- Splenomegaly
- Storage liver disease



Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis

Frequent
- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional
- Gangrena / necrosis