Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Localized skin lesion (HP:0011355)help
..Starting node
..expand
Xanthomatosis (HP:0000991)help
Term ID: 991
Name: Xanthomatosis
Synonym: Xanthomata; Yellow bumps of fatty deposits on skin
Definition: The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
Comments:
Reference: HP:0000991
Genes and Diseases:
 
       Child Nodes:
........expandEruptive xanthomas (HP:0001013) help
........expandAtheroeruptive xanthoma (HP:0001039) help
........expandXanthelasma (HP:0001114) help
........expandTendon xanthomatosis (HP:0010874) help
........expandXanthomas of the palmar creases (HP:0025530) help
........expandTuberous xanthoma (HP:0031290) help
........expandVerruciform xanthoma (HP:0031517) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000991HP:0000991Xanthomatosis0ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiencyHP:0040282 - Frequent191
HP:0000991HP:0000991Xanthomatosis0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional67
HP:0000991HP:0000991Xanthomatosis0ABCG5 CL E G H6424013886OMIM:618666SITOSTEROLEMIA 2; STSL267
HP:0000991HP:0000991Xanthomatosis0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional76
HP:0000991HP:0000991Xanthomatosis0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0000991HP:0000991Xanthomatosis0APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiencyHP:0040282 - Frequent40
HP:0000991HP:0000991Xanthomatosis0APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0000991HP:0000991Xanthomatosis0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0000991HP:0000991Xanthomatosis0APOA5 CL E G H11651917288OMIM:145750Hypertriglyceridemia, familial7
HP:0000991HP:0000991Xanthomatosis0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional356
HP:0000991HP:0000991Xanthomatosis0APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0000991HP:0000991Xanthomatosis0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0000991HP:0000991Xanthomatosis0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0000991HP:0000991Xanthomatosis0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0000991HP:0000991Xanthomatosis0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0000991HP:0000991Xanthomatosis0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0000991HP:0000991Xanthomatosis0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent172
HP:0000991HP:0000991Xanthomatosis0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000991HP:0000991Xanthomatosis0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0000991HP:0000991Xanthomatosis0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040281 - Very frequent196
HP:0000991HP:0000991Xanthomatosis0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional2157
HP:0000991HP:0000991Xanthomatosis0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0000991HP:0000991Xanthomatosis0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional73
HP:0000991HP:0000991Xanthomatosis0LDLRAP1 CL E G H2611918640OMIM:603813Hypercholesterolemia, autosomal recessive73
HP:0000991HP:0000991Xanthomatosis0LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0000991HP:0000991Xanthomatosis0LIPC CL E G H39906619ORPHA:140905Hyperlipidemia due to hepatic triacylglycerol lipase deficiency35
HP:0000991HP:0000991Xanthomatosis0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0000991HP:0000991Xanthomatosis0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0000991HP:0000991Xanthomatosis0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0000991HP:0000991Xanthomatosis0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040282 - Frequent645
HP:0000991HP:0000991Xanthomatosis0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0000991HP:0000991Xanthomatosis0LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3106
HP:0000991HP:0000991Xanthomatosis0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia106
HP:0000991HP:0000991Xanthomatosis0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional178
HP:0000991HP:0000991Xanthomatosis0PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0000991HP:0000991Xanthomatosis0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0000991HP:0000991Xanthomatosis0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0000991HP:0000991Xanthomatosis0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000991HP:0000991Xanthomatosis0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000991HP:0000991Xanthomatosis0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000991HP:0000991Xanthomatosis0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0000991HP:0000991Xanthomatosis0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000991HP:0000991Xanthomatosis0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0000991HP:0031517Verruciform xanthoma1 CL E G H
HP:0000991HP:0025530Xanthomas of the palmar creases1 CL E G H
HP:0000991HP:0001114Xanthelasma1ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiency191
HP:0000991HP:0010874Tendon xanthomatosis1ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional67
HP:0000991HP:0010874Tendon xanthomatosis1ABCG5 CL E G H6424013886OMIM:618666SITOSTEROLEMIA 2; STSL267
HP:0000991HP:0010874Tendon xanthomatosis1ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional76
HP:0000991HP:0031290Tuberous xanthoma1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0000991HP:0001114Xanthelasma1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0000991HP:0001114Xanthelasma1APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiency40
HP:0000991HP:0010874Tendon xanthomatosis1APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0000991HP:0001114Xanthelasma1APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0000991HP:0010874Tendon xanthomatosis1APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0000991HP:0001039Atheroeruptive xanthoma1APOA5 CL E G H11651917288OMIM:145750Hypertriglyceridemia, familial.7
HP:0000991HP:0010874Tendon xanthomatosis1APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional356
HP:0000991HP:0001114Xanthelasma1APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2.356
HP:0000991HP:0001013Eruptive xanthomas1APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0000991HP:0010874Tendon xanthomatosis1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0000991HP:0001114Xanthelasma1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0000991HP:0010874Tendon xanthomatosis1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0000991HP:0031290Tuberous xanthoma1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0000991HP:0001114Xanthelasma1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0000991HP:0010874Tendon xanthomatosis1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0000991HP:0001114Xanthelasma1EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0000991HP:0010874Tendon xanthomatosis1EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0000991HP:0001114Xanthelasma1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000991HP:0010874Tendon xanthomatosis1GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0000991HP:0001114Xanthelasma1GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0000991HP:0010874Tendon xanthomatosis1LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional2157
HP:0000991HP:0001114Xanthelasma1LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0000991HP:0010874Tendon xanthomatosis1LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0000991HP:0010874Tendon xanthomatosis1LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional73
HP:0000991HP:0010874Tendon xanthomatosis1LDLRAP1 CL E G H2611918640OMIM:603813Hypercholesterolemia, autosomal recessive.73
HP:0000991HP:0001013Eruptive xanthomas1LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0000991HP:0001013Eruptive xanthomas1LIPC CL E G H39906619ORPHA:140905Hyperlipidemia due to hepatic triacylglycerol lipase deficiencyHP:0040281 - Very frequent35
HP:0000991HP:0031290Tuberous xanthoma1LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0000991HP:0001114Xanthelasma1LPL CL E G H40236677OMIM:144250Hyperlipidemia, familial combined, 3HP:0040283 - Occasional106
HP:0000991HP:0001013Eruptive xanthomas1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0000991HP:0010874Tendon xanthomatosis1PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional178
HP:0000991HP:0001114Xanthelasma1PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0000991HP:0010874Tendon xanthomatosis1PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0000991HP:0010874Tendon xanthomatosis1PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0000991HP:0001114Xanthelasma1PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0000991HP:0001114Xanthelasma1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000991HP:0001114Xanthelasma1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000991HP:0001114Xanthelasma1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000991HP:0001114Xanthelasma1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000991HP:0010874Tendon xanthomatosis1TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF.62
HP:0000991HP:0001114Xanthelasma1TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF.62


Genes (28) :ABCA1 ABCG5 ABCG8 APOA1 APOA2 APOA5 APOB APOC2 APOE CYP27A1 EPHX2 FGFR1 G6PC1 GHR KRAS LDLR LDLRAP1 LIPC LMF1 LMNA LPL PCSK9 PPARG PPP1R17 SLC37A4 SMPD1 SPRED1 TTPA

Diseases (32) :ORPHA:425 ORPHA:391665 OMIM:618666 OMIM:210250 OMIM:618463 OMIM:143890 OMIM:145750 OMIM:144010 OMIM:207750 ORPHA:412 OMIM:213700 ORPHA:909 ORPHA:2396 OMIM:232200 OMIM:603813 OMIM:614025 ORPHA:140905 OMIM:246650 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:144250 OMIM:238600 OMIM:603776 ORPHA:79083 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:257200 ORPHA:137605 OMIM:277460
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.