| Term ID: |
3146 |
| Name: |
Hypocholesterolemia |
| Synonym: |
Decreased circulating cholesterol level |
| Definition: |
An decreased concentration of cholesterol in the blood. |
| Comments: |
|
| Reference: |
HP:0003146 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormality of lipoprotein cholesterol concentration (HP:0010979) 
|
..Elevated 7-dehydrocholesterol (HP:0010569)
|
..Elevated 8(9)-cholestenol (HP:0003465)
|
..Elevated 8-dehydrocholesterol (HP:0003462)
|
..Elevated cholesterol ester level (HP:0031211)
|
..Hypercholesterolemia (HP:0003124)
|
..Low cholesterol esterification rate (HP:0003349)
|
..obsolete Abnormal cholesterol homeostasis (HP:0003464)
|
..obsolete Increased cholesterol esters (HP:0500010)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040281 - Very frequent | | | 191 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | APOB CL E G H | 338 | 603 | OMIM:615558 | Hypobetalipoproteinemia, familial, 1 | | | | 356 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | | | | 8 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040280 - Obligate | | | 8 | | | | HP:0003146 | HP:0003146 | Hypocholesterolemia | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
Genes (15) :ABCA1 ALG12 APOB ATAD3A DHCR7 FDFT1 FLCN HSD3B7 MSMO1 MTTP PEX12 PMM2 PSAP SAR1B UBE3B
Diseases (16) :ORPHA:31150 ORPHA:79324 OMIM:615558 OMIM:618810 OMIM:270400 OMIM:618156 OMIM:610883 OMIM:607765 OMIM:616834 ORPHA:14 OMIM:266510 OMIM:212065 OMIM:610539 OMIM:246700 ORPHA:71 OMIM:244450 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
|
