Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Recurrent bacterial infections (HP:0002718)

Parent Node:
Recurrent skin infections (HP:0001581)

..Starting node
..Recurrent bacterial skin infections (HP:0005406)

Term ID:

5406

Name:

Recurrent bacterial skin infections

Synonym:

Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections

Definition:

Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.

Comments:

Reference:

HP:0005406

Genes and Diseases:

Child Nodes:

........

Pyoderma (HP:0000999)

........

Chronic furunculosis (HP:0011132)

........

Recurrent cutaneous abscess formation (HP:0100838)

Sister Nodes:

Recurrent cutaneous fungal infections (HP:0011370)

Recurrent viral skin infections (HP:0011371)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	50
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	199
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	56
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	MYD88 CL E G H	4615	7562	ORPHA:183713	Bacterial susceptibility due to TLR signaling pathway deficiency	HP:0040282 - Frequent	9
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease		2
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0005406	HP:0005406	Recurrent bacterial skin infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0005406	HP:0000999	Pyoderma	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0005406	HP:0000999	Pyoderma	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent	50
HP:0005406	HP:0011132	Chronic furunculosis	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent	50
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0005406	HP:0000999	Pyoderma	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0005406	HP:0011132	Chronic furunculosis	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0005406	HP:0000999	Pyoderma	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	116
HP:0005406	HP:0000999	Pyoderma	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	167
HP:0005406	HP:0000999	Pyoderma	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	135
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0005406	HP:0011132	Chronic furunculosis	1	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0005406	HP:0011132	Chronic furunculosis	1	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3	.	241
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0005406	HP:0011132	Chronic furunculosis	1	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0005406	HP:0100838	Recurrent cutaneous abscess formation	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7

Genes (30) :ADAM17 BTK CARMIL2 CTSC CYBA CYBB DOCK8 EGFR EPHB4 GATA1 GJB2 GJB6 IL10RA IL17RA IL2RG LAMA3 LAMB3 LAMC2 LCP2 LYST MYD88 NCF1 NCF2 OTULIN PSEN1 PSENEN UBE2A UROD UROS ZAP70

Diseases (30) :ORPHA:294023 OMIM:300755 OMIM:307200 ORPHA:47 OMIM:618131 OMIM:245010 ORPHA:678 OMIM:233690 OMIM:306400 ORPHA:217390 ORPHA:90186 ORPHA:79277 OMIM:148210 ORPHA:477 OMIM:613148 OMIM:613953 ORPHA:276 ORPHA:79404 OMIM:619374 ORPHA:167 OMIM:214500 ORPHA:183713 OMIM:233700 OMIM:233710 OMIM:619986 OMIM:613737 OMIM:613736 ORPHA:163956 ORPHA:95159 ORPHA:911

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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