Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 consumption behavior (HP:0040202)

Parent Node:
Abnormal eating behavior (HP:0100738)

..Starting node
..Polyphagia (HP:0002591)

Term ID:

2591

Name:

Polyphagia

Synonym:

Hyperphagia; Increased appetite; Voracious appetite

Definition:

A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.

Comments:

Reference:

HP:0002591

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulimia (HP:0100739)

Choking episodes (HP:0030842)

Oral aversion (HP:0012523)

Pica (HP:0011856)

Salt craving (HP:0030083)

Sweet craving (HP:0030221)

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:0002591	HP:0002591	Polyphagia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0002591	HP:0002591	Polyphagia	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0002591	HP:0002591	Polyphagia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0002591	HP:0002591	Polyphagia	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0002591	HP:0002591	Polyphagia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002591	HP:0002591	Polyphagia	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	4
HP:0002591	HP:0002591	Polyphagia	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0002591	HP:0002591	Polyphagia	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0002591	HP:0002591	Polyphagia	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0002591	HP:0002591	Polyphagia	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0002591	HP:0002591	Polyphagia	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0002591	HP:0002591	Polyphagia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0002591	HP:0002591	Polyphagia	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0002591	HP:0002591	Polyphagia	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0002591	HP:0002591	Polyphagia	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0002591	HP:0002591	Polyphagia	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.	5
HP:0002591	HP:0002591	Polyphagia	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002591	HP:0002591	Polyphagia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002591	HP:0002591	Polyphagia	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0002591	HP:0002591	Polyphagia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0002591	HP:0002591	Polyphagia	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0002591	HP:0002591	Polyphagia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0002591	HP:0002591	Polyphagia	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0002591	HP:0002591	Polyphagia	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0002591	HP:0002591	Polyphagia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0002591	HP:0002591	Polyphagia	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0002591	HP:0002591	Polyphagia	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0002591	HP:0002591	Polyphagia	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0002591	HP:0002591	Polyphagia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0002591	HP:0002591	Polyphagia	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0002591	HP:0002591	Polyphagia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0002591	HP:0002591	Polyphagia	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	63
HP:0002591	HP:0002591	Polyphagia	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0002591	HP:0002591	Polyphagia	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0002591	HP:0002591	Polyphagia	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0002591	HP:0002591	Polyphagia	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0002591	HP:0002591	Polyphagia	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0002591	HP:0002591	Polyphagia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0002591	HP:0002591	Polyphagia	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20		54
HP:0002591	HP:0002591	Polyphagia	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040281 - Very frequent	54
HP:0002591	HP:0002591	Polyphagia	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0002591	HP:0002591	Polyphagia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002591	HP:0002591	Polyphagia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002591	HP:0002591	Polyphagia	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0002591	HP:0002591	Polyphagia	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0002591	HP:0002591	Polyphagia	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0002591	HP:0002591	Polyphagia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0002591	HP:0002591	Polyphagia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0002591	HP:0002591	Polyphagia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent
HP:0002591	HP:0002591	Polyphagia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002591	HP:0002591	Polyphagia	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.	8
HP:0002591	HP:0002591	Polyphagia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0002591	HP:0002591	Polyphagia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0002591	HP:0002591	Polyphagia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	121
HP:0002591	HP:0002591	Polyphagia	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040281 - Very frequent	65
HP:0002591	HP:0002591	Polyphagia	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002591	HP:0002591	Polyphagia	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040281 - Very frequent	27
HP:0002591	HP:0002591	Polyphagia	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0002591	HP:0002591	Polyphagia	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0002591	HP:0002591	Polyphagia	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	7
HP:0002591	HP:0002591	Polyphagia	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002591	HP:0002591	Polyphagia	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0002591	HP:0002591	Polyphagia	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0002591	HP:0002591	Polyphagia	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0002591	HP:0002591	Polyphagia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0002591	HP:0002591	Polyphagia	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002591	HP:0002591	Polyphagia	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0002591	HP:0002591	Polyphagia	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0002591	HP:0002591	Polyphagia	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0002591	HP:0002591	Polyphagia	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0002591	HP:0002591	Polyphagia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0002591	HP:0002591	Polyphagia	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0002591	HP:0002591	Polyphagia	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0002591	HP:0002591	Polyphagia	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	55
HP:0002591	HP:0002591	Polyphagia	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0002591	HP:0002591	Polyphagia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002591	HP:0002591	Polyphagia	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	37
HP:0002591	HP:0002591	Polyphagia	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	37
HP:0002591	HP:0002591	Polyphagia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0002591	HP:0002591	Polyphagia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0002591	HP:0002591	Polyphagia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	37
HP:0002591	HP:0002591	Polyphagia	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0002591	HP:0002591	Polyphagia	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	278
HP:0002591	HP:0002591	Polyphagia	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002591	HP:0002591	Polyphagia	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0002591	HP:0002591	Polyphagia	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7

Genes (71) :ABCC8 ADCY3 ADNP AGPAT2 ALMS1 ATP10A BBS9 BRAF BSCL2 CASZ1 CTNNB1 EZH2 GABRD GNAS GPR101 GRN HERC2 HNF1A HSPG2 HTT IFT74 IL6 IPW ITPR3 KCNAB2 KCNJ11 LEP LEPR LUZP1 MAGEL2 MAN1B1 MAPT MBD5 MC4R MEN1 MKRN3 MKRN3-AS1 MMP23B MN1 MYT1L NDN NPAP1 NTRK2 OCA2 PCSK1 PDPN POMC PRDM16 PREPL PRKCZ PSEN1 PTPN22 PWAR1 PWRN1 RERE SATB2 SETD2 SH2B1 SIM1 SKI SLC2A3 SLC3A1 SLC5A2 SNORD115-1 SNORD116-1 SNRPN SPEN UBE3A UBE4B UCP2 YY1

Diseases (54) :ORPHA:276575 OMIM:617885 ORPHA:404448 OMIM:608594 ORPHA:64 ORPHA:411515 OMIM:615986 ORPHA:54595 OMIM:269700 ORPHA:1606 OMIM:277590 ORPHA:79443 ORPHA:79444 OMIM:300942 OMIM:607485 OMIM:176270 OMIM:222100 ORPHA:324575 ORPHA:399 OMIM:617119 ORPHA:276580 OMIM:614962 ORPHA:66628 OMIM:614963 ORPHA:179494 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:397941 OMIM:600274 OMIM:172700 ORPHA:228402 OMIM:156200 OMIM:618406 ORPHA:71529 ORPHA:97279 OMIM:618774 OMIM:616521 OMIM:613886 ORPHA:71528 ORPHA:71526 OMIM:609734 ORPHA:163690 ORPHA:251028 OMIM:616831 ORPHA:329249 ORPHA:171829 ORPHA:369873 ORPHA:398079 OMIM:233100 ORPHA:276556

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen