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PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Apolipoprotein A-I deficiency

APOL1 ABCA1
NPHS2 APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOL1
(0.68)
APOA1



Citations in the biomedical literature:


Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
APOL1 NPHS2
Apolipoprotein A-I deficiency
ABCA1 APOA1



Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Apolipoprotein A-I deficiency

Synonym(s):
- Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

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

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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

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



Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

(no data available)