Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Parent Node:
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Abnormality of skin morphology (HP:0011121)help
..Starting node
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Poikiloderma (HP:0001029)help
Term ID: 1029
Name: Poikiloderma
Synonym:
Definition: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Comments:
Reference: HP:0001029
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) help
..expandThickened skin (HP:0001072) 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:0001029HP:0001029Poikiloderma0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040281 - Very frequent2
HP:0001029HP:0001029Poikiloderma0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001029HP:0001029Poikiloderma0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0001029HP:0001029Poikiloderma0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001029HP:0001029Poikiloderma0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0001029HP:0001029Poikiloderma0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent10
HP:0001029HP:0001029Poikiloderma0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001029HP:0001029Poikiloderma0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0001029HP:0001029Poikiloderma0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001029HP:0001029Poikiloderma0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001029HP:0001029Poikiloderma0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0001029HP:0001029Poikiloderma0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001029HP:0001029Poikiloderma0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0001029HP:0001029Poikiloderma0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001029HP:0001029Poikiloderma0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0001029HP:0001029Poikiloderma0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001029HP:0001029Poikiloderma0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0001029HP:0001029Poikiloderma0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001029HP:0001029Poikiloderma0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.HP:0003577 - Congenital onset6
HP:0001029HP:0001029Poikiloderma0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0001029HP:0001029Poikiloderma0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0001029HP:0001029Poikiloderma0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0001029HP:0001029Poikiloderma0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0001029HP:0001029Poikiloderma0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001029HP:0001029Poikiloderma0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040281 - Very frequent155
HP:0001029HP:0001029Poikiloderma0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0001029HP:0001029Poikiloderma0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0001029HP:0001029Poikiloderma0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040281 - Very frequent445
HP:0001029HP:0001029Poikiloderma0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0001029HP:0001029Poikiloderma0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001029HP:0001029Poikiloderma0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0001029HP:0001029Poikiloderma0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0001029HP:0001029Poikiloderma0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0001029HP:0001029Poikiloderma0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0001029HP:0001029Poikiloderma0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0001029HP:0001029Poikiloderma0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86


Genes (23) :ANAPC1 BLM CD28 COL7A1 CTLA4 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FAM111B FERMT1 IARS2 LMNA MTX2 POLH RECQL4 RNU7-1 TNFRSF1B USB1 XPA XPC

Diseases (25) :ORPHA:221008 OMIM:618625 ORPHA:125 ORPHA:2584 ORPHA:158673 ORPHA:910 OMIM:278740 OMIM:278730 ORPHA:220295 OMIM:278800 OMIM:615704 ORPHA:2908 OMIM:173650 OMIM:616007 OMIM:248370 OMIM:619127 ORPHA:90342 OMIM:278750 ORPHA:1225 ORPHA:221016 OMIM:268400 OMIM:619487 OMIM:604173 OMIM:278700 OMIM:278720
 

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