Human Phenotype Ontology 
Grandparent Node:
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Irregular hyperpigmentation (HP:0007400)help
Grandparent Node:
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Macule (HP:0012733)help
Parent Node:
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Hypermelanotic macule (HP:0001034)help
..Starting node
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Multiple lentigines (HP:0001003)help
Term ID: 1003
Name: Multiple lentigines
Synonym: Liver spots
Definition: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
Comments:
Reference: HP:0001003
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLarge cafe-au-lait macules with irregular margins (HP:0005605) help
..expandMacular hyperpigmented dermopathy (HP:0007412) help
..expandMongolian blue spot (HP:0011369) 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:0001003HP:0001003Multiple lentigines0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001003HP:0001003Multiple lentigines0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001003HP:0001003Multiple lentigines0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001003HP:0001003Multiple lentigines0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0001003HP:0001003Multiple lentigines0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 23HP:0040282 - Frequent13
HP:0001003HP:0001003Multiple lentigines0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0001003HP:0001003Multiple lentigines0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001003HP:0001003Multiple lentigines0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001003HP:0001003Multiple lentigines0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001003HP:0001003Multiple lentigines0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001003HP:0001003Multiple lentigines0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0001003HP:0001003Multiple lentigines0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001003HP:0001003Multiple lentigines0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001003HP:0001003Multiple lentigines0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040281 - Very frequent13
HP:0001003HP:0001003Multiple lentigines0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040281 - Very frequent134
HP:0001003HP:0001003Multiple lentigines0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0001003HP:0001003Multiple lentigines0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001003HP:0001003Multiple lentigines0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent291
HP:0001003HP:0001003Multiple lentigines0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0001003HP:0001003Multiple lentigines0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0001003HP:0001003Multiple lentigines0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent212
HP:0001003HP:0001003Multiple lentigines0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001003HP:0001003Multiple lentigines0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001003HP:0001003Multiple lentigines0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040281 - Very frequent740


Genes (15) :BRAF DSTYK KITLG KRAS MAP2K1 MAP2K2 MAPK1 NRAS PDE11A PRKAR1A PTPN11 RAF1 SHOC2 SMARCAL1 STK11

Diseases (18) :ORPHA:1340 OMIM:115150 OMIM:613707 ORPHA:500 ORPHA:101003 OMIM:270750 OMIM:145250 OMIM:615280 OMIM:619087 OMIM:613224 ORPHA:1359 OMIM:160980 OMIM:151100 OMIM:611554 OMIM:611553 OMIM:607721 ORPHA:1830 ORPHA:2869
 

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