Term ID: 1047
Name: Atopic dermatitis
Synonym: Atopic dermatitis, chronic; Baby eczema; Dermatitis, Atopic
Definition: Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
Comments:
Reference: HP:0001047
Genes and Diseases: Child Nodes: ........Late onset atopic dermatitis (HP:0007573) Sister Nodes: ..Acne (HP:0001061) ..Crusting erythematous dermatitis (HP:0007473) ..Cutaneous abscess (HP:0031292) ..Deep dermal perivascular inflammatory infiltrate (HP:0031191) ..Eczema (HP:0000964) ..Erysipelas (HP:0001055) ..Erythema nodosum (HP:0012219) ..Erythroderma (HP:0001019) ..Folliculitis (HP:0025084) ..Neutrophilic infiltration of the skin (HP:0031234) ..Perifolliculitis (HP:0012322) ..Psoriasiform dermatitis (HP:0003765) ..Pustule (HP:0200039) ..Recurrent skin infections (HP:0001581) ..Skin rash (HP:0000988) ..Superficial dermal perivascular inflammatory infiltrate (HP:0031190) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0001047 HP:0001047 Atopic dermatitis 0 ABCC9 CL E G H 10060 60 OMIM:619719 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS 254 HP:0001047 HP:0001047 Atopic dermatitis 0 BRAF CL E G H 673 1097 OMIM:115150 Cardiofaciocutaneous syndrome 1 . 276 HP:0001047 HP:0001047 Atopic dermatitis 0 CARD11 CL E G H 84433 16393 OMIM:617638 Immunodeficiency 11B with atopic dermatitis . 45 HP:0001047 HP:0001047 Atopic dermatitis 0 CDSN CL E G H 1041 1802 ORPHA:90368 Hypotrichosis simplex of the scalp 7 HP:0001047 HP:0001047 Atopic dermatitis 0 CFTR CL E G H 1080 1884 ORPHA:498359 Aquagenic palmoplantar keratoderma HP:0040283 - Occasional 1371 HP:0001047 HP:0001047 Atopic dermatitis 0 DOCK8 CL E G H 81704 19191 ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency HP:0040281 - Very frequent 217 HP:0001047 HP:0001047 Atopic dermatitis 0 DOCK8 CL E G H 81704 19191 OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive . 217 HP:0001047 HP:0001047 Atopic dermatitis 0 FOXN1 CL E G H 8456 12765 OMIM:618806 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND 54 HP:0001047 HP:0001047 Atopic dermatitis 0 GNB2 CL E G H 2783 4398 OMIM:619503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF HP:0001047 HP:0001047 Atopic dermatitis 0 HSPA9 CL E G H 3313 5244 OMIM:616854 Even-Plus syndrome . 6 HP:0001047 HP:0001047 Atopic dermatitis 0 IFIH1 CL E G H 64135 18873 OMIM:615846 Aicardi-Goutieres syndrome 7 . 28 HP:0001047 HP:0001047 Atopic dermatitis 0 IGHG2 CL E G H 3501 5526 ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 1 HP:0001047 HP:0001047 Atopic dermatitis 0 IGKC CL E G H 3514 5716 ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 5 HP:0001047 HP:0001047 Atopic dermatitis 0 IL6R CL E G H 3570 6019 OMIM:618944 HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 1 HP:0001047 HP:0001047 Atopic dermatitis 0 IL6ST CL E G H 3572 6021 OMIM:619752 HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A HP:0001047 HP:0001047 Atopic dermatitis 0 IPO8 CL E G H 10526 9853 OMIM:619472 VISS syndrome HP:0001047 HP:0001047 Atopic dermatitis 0 JAK1 CL E G H 3716 6190 OMIM:618999 AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE 12 HP:0001047 HP:0001047 Atopic dermatitis 0 KRT1 CL E G H 3848 6412 ORPHA:530838 KRT1-related diffuse nonepidermolytic keratoderma HP:0040283 - Occasional 100 HP:0001047 HP:0001047 Atopic dermatitis 0 KRT74 CL E G H 121391 28929 ORPHA:90368 Hypotrichosis simplex of the scalp 5 HP:0001047 HP:0001047 Atopic dermatitis 0 LRRC32 CL E G H 2615 4161 OMIM:619074 CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD HP:0001047 HP:0001047 Atopic dermatitis 0 MORC2 CL E G H 22880 23573 ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0040283 - Occasional 8 HP:0001047 HP:0001047 Atopic dermatitis 0 NEK9 CL E G H 91754 18591 OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy . 9 HP:0001047 HP:0001047 Atopic dermatitis 0 PGM3 CL E G H 5238 8907 ORPHA:443811 PGM3-CDG HP:0040282 - Frequent 15 HP:0001047 HP:0001047 Atopic dermatitis 0 RRAS2 CL E G H 22800 17271 OMIM:618624 NOONAN SYNDROME 12; NS12 1 HP:0001047 HP:0001047 Atopic dermatitis 0 SCNN1A CL E G H 6337 10599 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040283 - Occasional 67 HP:0001047 HP:0001047 Atopic dermatitis 0 SCNN1B CL E G H 6338 10600 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040283 - Occasional 61 HP:0001047 HP:0001047 Atopic dermatitis 0 SCNN1G CL E G H 6340 10602 ORPHA:171876 Generalized pseudohypoaldosteronism type 1 HP:0040283 - Occasional 57 HP:0001047 HP:0001047 Atopic dermatitis 0 SRCAP CL E G H 10847 16974 OMIM:136140 Floating-Harbor syndrome 138 HP:0001047 HP:0001047 Atopic dermatitis 0 TBC1D2B CL E G H 23102 29183 ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0040282 - Frequent HP:0001047 HP:0001047 Atopic dermatitis 0 ZNF341 CL E G H 84905 15992 OMIM:618282 Hyper-Ige recurrent infection syndrome 3, autosomal recessive . 1 HP:0001047 HP:0007573 Late onset atopic dermatitis 1 CL E G H
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
