Cardiology · Cardiology / Preventive cardiology and lipidology
Abetalipoproteinemia
also: Bassen–Kornzweig syndrome
Absence of apoB-containing lipoproteins with fat malabsorption and neuropathy.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Preventive cardiology and lipidology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- MTTP
- Alternative names & eponyms
- Bassen–Kornzweig syndrome
Etiology & mechanism
Microsomal triglyceride transfer protein deficiency.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Abetalipoproteinemia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
NARP syndrome
ataxia, neuropathy, retinitis pigmentosa
2 shared
MERRF syndrome
ataxia, neuropathy
2 shared
Perrault syndrome
ataxia, neuropathy
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Angelman syndrome
ataxia
1 shared
Bardet–Biedl syndrome
retinitis pigmentosa
1 shared
Blind loop syndrome
steatorrhea
1 shared
Brown–Vialetto–Van Laere syndrome
ataxia
1 shared
Cerebral folate deficiency syndrome
ataxia
Shares genes with
None.
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