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Apolipoprotein A-I deficiency
1 OMIM reference -
2 associated genes
87 connected diseases
10 signs/symptoms
Disease Type of connection
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Tangier disease
Epidermolytic palmoplantar keratoderma
Immunodeficiency due to an early component of complement deficiency
Cholesterol-ester transfer protein deficiency
Amyotrophic lateral sclerosis
Familial LCAT deficiency
Fish-eye disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Romano-Ward syndrome
Familial amyloid polyneuropathy
Transthyretin-related familial amyloid cardiomyopathy
FADD-related immunodeficiency
Oculootodental syndrome
Xeroderma pigmentosum complementation group C
Homozygous familial hypercholesterolemia
X-linked non-syndromic intellectual deficit
Aceruloplasminemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Amyotrophic lateral sclerosis type 4
Annular epidermolytic ichthyosis
Autosomal dominant methemoglobinemia
Congenital analbuminemia
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
Dihydropteridine reductase deficiency
Epidermolytic ichthyosis
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Fibronectin glomerulopathy
Hb Bart's hydrops fetalis
Hemoglobin H disease
Horizontal gaze palsy with progressive scoliosis
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Pachyonychia congenita
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spinocerebellar ataxia with axonal neuropathy type 2
Vitiligo-associated autoimmune disease
X-linked hyper-IgM syndrome
Xanthinuria type II
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial renal amyloidosis due to Apolipoprotein AII variant
Congenital communicating hydrocephalus
Congenital non-bullous ichthyosiform erythroderma
Harlequin ichthyosis
Hereditary sensory and autonomic neuropathy type 1
Lamellar ichthyosis
Adult-onset distal myopathy due to VCP mutation
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal agammaglobulinemia
B-cell chronic lymphocytic leukemia
Behavioral variant of frontotemporal dementia
Congenital atransferrinemia
Familial partial lipodystrophy due to AKT2 mutations
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Joubert syndrome with renal defect
Pediatric systemic lupus erythematosus
Progressive non-fluent aphasia
Retinitis pigmentosa
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 10
Synpolydactyly type 2
T-B+ severe combined immunodeficiency due to JAK3 deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Atypical hemolytic uremic syndrome with anti-factor H antibodies
C3 glomerulonephritis
Dense deposit disease
Williams syndrome
Congenital chronic diarrhea with protein-losing enteropathy
Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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:
1 OMIM reference -
1 MeSH reference: D052456
Gene symbol UniProt reference OMIM reference
ABCA1 O95477600046
APOA1 P02647107680
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