| Term ID: |
7588 |
| Name: |
Reticular hyperpigmentation |
| Synonym: |
Reticulate hyperpigmentation |
| Definition: |
Increased pigmentation of the skin with a netlike (reticular) pattern. |
| Comments: |
|
| Reference: |
HP:0007588 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Forehead hyperpigmentation (HP:0005336) 
|
..Hypermelanotic macule (HP:0001034)
|
..Hyperpigmentation of eyelids (HP:0007406)
|
..Hyperpigmented streaks (HP:0007572)
|
..Increased groin pigmentation with raindrop depigmentation (HP:0007450)
|
..Irregular hyperpigmentation of back (HP:0007521)
|
..Linear hyperpigmentation (HP:0007546)
|
..Lip hyperpigmentation (HP:0100816)
|
..Progressive reticulate hyperpigmentation (HP:0007456)
|
..Spotty hyperpigmentation (HP:0005585)
|
| 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:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | . | | | 110 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 27 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 17 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | POFUT1 CL E G H | 23509 | 14988 | OMIM:615327 | Dowling-Degos disease 2 | | | | 2 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | | | HP:0007588 | HP:0007588 | Reticular hyperpigmentation | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
Genes (11) :KRT14 NHP2 NOP10 POFUT1 POLA1 PORCN RPA1 TERC TERT TINF2 USB1
Diseases (9) :OMIM:125595 OMIM:161000 OMIM:224230 OMIM:615327 OMIM:301220 OMIM:305600 OMIM:619767 OMIM:127550 OMIM:604173 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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