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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
11 OMIM references -
13 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Romano-Ward syndrome

ABCA1 AKAP9
APOA1 ALG10
ANK2
CAV3
KCNE1
KCNE2
KCNH2
KCNJ5
KCNQ1
NOS1AP
SCN4B
SCN5A
SNTA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCA1
(0.84)
SNTA1



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Romano-Ward syndrome
AKAP9 ALG10 ANK2 CAV3 KCNE1 KCNE2
KCNH2 KCNJ5 KCNQ1 NOS1AP SCN4B SCN5A
SNTA1



Apolipoprotein A-I deficiency
Romano-Ward syndrome

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

Synonym(s):
- Romano-Ward long QT syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -

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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
11 OMIM references -
1 MeSH reference: D029597

Apolipoprotein A-I deficiency

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



Romano-Ward syndrome

(no data available)