HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOBETALIPOPROTEINEMIA, FAMILIAL
ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA
HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
FHBL1
FHBL
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615558
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000510) Rod-cone dystrophy rare [HPO:skoehler] 266 / 7739
2
(HPO:0000546) Retinal degeneration 61 / 7739
3
(HPO:0001315) Reduced tendon reflexes 160 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0001927) Acanthocytosis 11 / 7739
6
(HPO:0003563) Hypobetalipoproteinemia 9 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Decreased serum cholesterol 6 / 7739
9
(OMIM) Mild fat malabsorption 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypobetalipoproteinemia (FBHL) and abetalipoproteinemia (ABL; 200100) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging ...
Clinical Description OMIM Brown et al. (1974) noted that the consistent laboratory findings of reduced serum cholesterol and beta-lipoprotein define hypobetalipoproteinemia as a distinct syndrome. They found 4 reported kindreds and added a fifth. Only 2 of the patients in the ...
Molecular genetics OMIM In a patient with hypobetalipoproteinemia and small amounts of truncated protein (B37) in VLDL, LDL, and HDL fractions of the plasma, Young et al. (1987, 1988) found a 4-bp deletion in the APOB gene resulting in a frameshift ...
Population genetics OMIM Lee and Hegele (2013) stated that the incidences of both FHBL and abetalipoproteinemia are reported as less than 1 in 1 million.