loading...| Preferred Name | Abetalipoproteinemia | |
| Synonyms |
Homozygous familial hypobetalipoproteinemia Bassen-Kornzweig disease |
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| Definitions |
A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_14 |
|
| alternative_term |
Homozygous familial hypobetalipoproteinemia Bassen-Kornzweig disease |
|
| definition |
A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=14 |
|
| has_age_of_onset |
Childhood Infancy |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
MedDRA:10083851 UMLS:C0000744 OMIM:605019 ICD-11:5C81.1 OMIM:200100 OMIM:615558 MeSH:D000012 ICD-10:E78.6 |
|
| label |
Abetalipoproteinemia |
|
| notation |
ORPHA:14 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_31154 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_104005 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_98366 http://www.orpha.net/ORDO/Orphanet_98096 http://www.orpha.net/ORDO/Orphanet_363306 |
|
| prefixIRI |
ORDO:Orphanet_14 |
|
| prefLabel |
Abetalipoproteinemia |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_31154 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_104005 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_98366 http://www.orpha.net/ORDO/Orphanet_98096 http://www.orpha.net/ORDO/Orphanet_363306 |
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| subClassOf |