Abetalipoproteinemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACANTHOCYTOSIS MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY MTP DEFICIENCY BASSEN-KORNZWEIG SYNDROME ABL Homozygous familial hypobetalipoproteinemia Bassen-Kornzweig disease |
| Number of Symptoms | 17 |
| OrphanetNr: | 14 |
| OMIM Id: |
200100
|
| ICD-10: |
E78.6 |
| UMLs: |
C0000744 |
| MeSH: |
D000012 |
| MedDRA: |
|
| Snomed: |
190787008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive metabolic cerebellar ataxia
-Rare eye disease -Rare genetic disease -Rare neurologic disease Constitutional hemolytic anemia due to acanthocytosis -Rare genetic disease -Rare hematologic disease Genetic intestinal disease due to fat malabsorption -Rare genetic disease Hypobetalipoproteinemia -Rare endocrine disease -Rare genetic disease Intestinal disease due to fat malabsorption -Rare gastroenterologic disease Metabolic disease with pigmentary retinitis -Rare eye disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Rare hereditary metabolic disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0001146) | Pigmentary retinal degeneration | 24288038 | IBIS | 15 / 7739 | ||
|
|
(HPO:0000488) | Retinopathy | 75 / 7739 | ||||
|
|
(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
|
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(HPO:0011096) | Peripheral demyelination | 28 / 7739 | ||||
|
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
|
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
|
(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
|
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(HPO:0002630) | Fat malabsorption | 11 / 7739 | ||||
|
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
|
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(HPO:0001927) | Acanthocytosis | 11 / 7739 | ||||
|
|
(HPO:0008181) | Abetalipoproteinemia | 1 / 7739 | ||||
|
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
|
|
(OMIM) | 'Burr cells' | 4 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0007305) | CNS demyelination | 21 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) 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 |
Features are celiac syndrome, pigmentary degeneration of the retina, progressive ataxic neuropathy, and a peculiar 'burr-cell' malformation of the red cells called acanthocytosis. Intestinal absorption of lipids is defective, serum cholesterol very low, and serum beta lipoprotein absent. ... |
| Molecular genetics OMIM |
Talmud et al. (1988) presented evidence that the defect in abetalipoproteinemia (at least in the 2 families studied) did not involve the APOB gene: in each of these 2 families, 2 affected children inherited different APOB RFLP alleles ... |
| Population genetics OMIM | Lee and Hegele (2013) stated that the incidences of both ABL and familial hyopbetalipoproteinemia are reported as less than 1 in 1 million. |