Human Phenotype Ontology 
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Hypopigmented macule (HP:0020073)help
Term ID: 20073
Name: Hypopigmented macule
Synonym:
Definition: A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
Comments:
Reference: HP:0020073
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020073HP:0020073Hypopigmented macule0ABCB6 CL E G H1005847OMIM:615402DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH320
HP:0020073HP:0020073Hypopigmented macule0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0020073HP:0020073Hypopigmented macule0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0020073HP:0020073Hypopigmented macule0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0020073HP:0020073Hypopigmented macule0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0020073HP:0020073Hypopigmented macule0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0020073HP:0020073Hypopigmented macule0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0020073HP:0020073Hypopigmented macule0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0020073HP:0020073Hypopigmented macule0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0020073HP:0020073Hypopigmented macule0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0020073HP:0020073Hypopigmented macule0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0020073HP:0020073Hypopigmented macule0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0020073HP:0020073Hypopigmented macule0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0020073HP:0020073Hypopigmented macule0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0020073HP:0020073Hypopigmented macule0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0020073HP:0020073Hypopigmented macule0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0020073HP:0020073Hypopigmented macule0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0020073HP:0020073Hypopigmented macule0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0020073HP:0020073Hypopigmented macule0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0020073HP:0020073Hypopigmented macule0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0020073HP:0020073Hypopigmented macule0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0020073HP:0020073Hypopigmented macule0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0020073HP:0020073Hypopigmented macule0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0020073HP:0020073Hypopigmented macule0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare6
HP:0020073HP:0020073Hypopigmented macule0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0020073HP:0020073Hypopigmented macule0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0020073HP:0020073Hypopigmented macule0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0020073HP:0020073Hypopigmented macule0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0020073HP:0020073Hypopigmented macule0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0020073HP:0020073Hypopigmented macule0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0020073HP:0020073Hypopigmented macule0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0020073HP:0007449Confetti-like hypopigmented macules1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0020073HP:0007449Confetti-like hypopigmented macules1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0020073HP:0007449Confetti-like hypopigmented macules1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0020073HP:0007449Confetti-like hypopigmented macules1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0020073HP:0007449Confetti-like hypopigmented macules1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0020073HP:0007449Confetti-like hypopigmented macules1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0020073HP:0009719Hypomelanotic macule1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent23
HP:0020073HP:0009719Hypomelanotic macule1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0020073HP:0009719Hypomelanotic macule1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0020073HP:0009719Hypomelanotic macule1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0020073HP:0009719Hypomelanotic macule1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0020073HP:0009719Hypomelanotic macule1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0020073HP:0007449Confetti-like hypopigmented macules1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0020073HP:0007449Confetti-like hypopigmented macules1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0020073HP:0007449Confetti-like hypopigmented macules1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0020073HP:0009719Hypomelanotic macule1POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 2.2
HP:0020073HP:0009719Hypomelanotic macule1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent1090
HP:0020073HP:0007449Confetti-like hypopigmented macules1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0020073HP:0009719Hypomelanotic macule1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0020073HP:0007449Confetti-like hypopigmented macules1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0020073HP:0009719Hypomelanotic macule1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040281 - Very frequent2738
HP:0020073HP:0009719Hypomelanotic macule1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0020073HP:0030679Ash-leaf spot2 CL E G H


Genes (22) :ABCB6 CDKN1A CDKN1B CDKN2B CDKN2C ENPP1 EPHB4 FANCC IFNG KRT14 KRT5 MEN1 NF1 NONO PLEC POFUT1 POGLUT1 PSENEN RASA1 SPECC1L TSC1 TSC2

Diseases (18) :OMIM:615402 ORPHA:652 ORPHA:276152 OMIM:615522 ORPHA:137667 OMIM:227645 ORPHA:805 OMIM:613254 ORPHA:79399 ORPHA:79397 ORPHA:79145 OMIM:131100 OMIM:162200 ORPHA:466791 ORPHA:79401 OMIM:615327 OMIM:145420 OMIM:191100
 

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