loading...| Preferred Name |
Abetalipoproteinemia |
| ID |
http://www.orpha.net/ORDO/Orphanet_14 |
| alternative_term |
Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia |
| 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 |
| hasDbXref |
OMIM:605019 ICD-11:5C81.1 OMIM:615558 UMLS:C0000744 MeSH:D000012 ICD-10:E78.6 OMIM:200100 |
| label |
Abetalipoproteinemia |
| notation |
ORPHA:14 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_98366 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_98096 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_104005 |
| prefixIRI |
ORDO:Orphanet_14 |
| prefLabel |
Abetalipoproteinemia |
| present_in |
Worldwide AND has_cases/families_value : 100.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_98366 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_98096 http://www.orpha.net/ORDO/Orphanet_98644 http://www.orpha.net/ORDO/Orphanet_104005 |
| subClassOf |