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:
Abnormal renal morphology (HP:0012210)

Parent Node:
Renal cyst (HP:0000107)

..Starting node
..Multiple renal cysts (HP:0005562)

Term ID:

5562

Name:

Multiple renal cysts

Synonym:

Multiple kidney cysts

Definition:

The presence of many cysts in the kidney.

Comments:

Reference:

HP:0005562

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystic renal dysplasia (HP:0000800)

Multicystic kidney dysplasia (HP:0000003)

Multiple small medullary renal cysts (HP:0008659)

Polycystic kidney dysplasia (HP:0000113)

Renal cortical cysts (HP:0000803)

Renal corticomedullary cysts (HP:0000108)

Renal diverticulum (HP:0100877)

Simple renal cyst (HP:0012581)

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:0005562	HP:0005562	Multiple renal cysts	0	ALG5 CL E G H	29880	20266	OMIM:620056
HP:0005562	HP:0005562	Multiple renal cysts	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0005562	HP:0005562	Multiple renal cysts	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0005562	HP:0005562	Multiple renal cysts	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome	HP:0040281 - Very frequent	193
HP:0005562	HP:0005562	Multiple renal cysts	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0005562	HP:0005562	Multiple renal cysts	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0005562	HP:0005562	Multiple renal cysts	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0005562	HP:0005562	Multiple renal cysts	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0005562	HP:0005562	Multiple renal cysts	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0005562	HP:0005562	Multiple renal cysts	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0005562	HP:0005562	Multiple renal cysts	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0005562	HP:0005562	Multiple renal cysts	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0005562	HP:0005562	Multiple renal cysts	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040282 - Frequent	125
HP:0005562	HP:0005562	Multiple renal cysts	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005562	HP:0005562	Multiple renal cysts	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0005562	HP:0005562	Multiple renal cysts	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0005562	HP:0005562	Multiple renal cysts	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0005562	HP:0005562	Multiple renal cysts	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0005562	HP:0005562	Multiple renal cysts	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0005562	HP:0005562	Multiple renal cysts	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0005562	HP:0005562	Multiple renal cysts	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040282 - Frequent	63
HP:0005562	HP:0005562	Multiple renal cysts	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0005562	HP:0005562	Multiple renal cysts	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040282 - Frequent	137
HP:0005562	HP:0005562	Multiple renal cysts	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0005562	HP:0005562	Multiple renal cysts	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0005562	HP:0005562	Multiple renal cysts	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0005562	HP:0005562	Multiple renal cysts	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0005562	HP:0005562	Multiple renal cysts	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005562	HP:0005562	Multiple renal cysts	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0005562	HP:0005562	Multiple renal cysts	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0005562	HP:0005562	Multiple renal cysts	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional

Genes (49) :ALG5 ARVCF BAZ1B BCL7B BMPER BUD23 CCND1 CLIP2 COL4A1 COMT DACT1 DHX16 DNAJC30 EIF4H ELN FKBP6 FLNB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C LIMK1 LRP5 METTL27 MLXIPL NCF1 NOTCH2 OCRL PEX13 PKD2 PMM2 PRKCSH RFC2 RREB1 SALL1 SEC24C SEC63 STK11 STX1A TBL2 TBX1 TMEM270 TSC1 TSC2 UFD1 VHL VPS37D

Diseases (18) :OMIM:620056 ORPHA:567 ORPHA:904 ORPHA:66637 ORPHA:892 OMIM:193300 ORPHA:73229 ORPHA:857 OMIM:618733 ORPHA:1190 ORPHA:2924 ORPHA:955 ORPHA:534 OMIM:614883 OMIM:613095 ORPHA:79318 ORPHA:2869 ORPHA:538

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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