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:
Decreased body weight (HP:0004325)

Parent Node:
Weight loss (HP:0001824)

..Starting node
..Cachexia (HP:0004326)

Term ID:

4326

Name:

Cachexia

Synonym:

Wasting syndrome

Definition:

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.

Comments:

Reference:

HP:0004326

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004326	HP:0004326	Cachexia	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	1	758	391	164730
HP:0004326	HP:0004326	Cachexia	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	2965	882	601215
HP:0004326	HP:0004326	Cachexia	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	576	33499	606605
HP:0004326	HP:0004326	Cachexia	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	350	1856	117143
HP:0004326	HP:0004326	Cachexia	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	574	17272	609279
HP:0004326	HP:0004326	Cachexia	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	595	29298	613529
HP:0004326	HP:0004326	Cachexia	0	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0004326	HP:0004326	Cachexia	0	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0004326	HP:0004326	Cachexia	0	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0004326	HP:0004326	Cachexia	0	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0004326	HP:0004326	Cachexia	0	CUL4B CL E G H	8450	85293				ORPHA	1	415	2555	300304
HP:0004326	HP:0004326	Cachexia	0	ERCC2 CL E G H	2068	220295				ORPHA	1	1572	3434	126340
HP:0004326	HP:0004326	Cachexia	0	ERCC3 CL E G H	2071	220295				ORPHA	1	523	3435	133510
HP:0004326	HP:0004326	Cachexia	0	ERCC4 CL E G H	2072	220295				ORPHA	1	726	3436	133520
HP:0004326	HP:0004326	Cachexia	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	726	3436	133520
HP:0004326	HP:0004326	Cachexia	0	ERCC5 CL E G H	2073	220295				ORPHA	1	491	3437	133530
HP:0004326	HP:0004326	Cachexia	0	INSR CL E G H	3643	508	Acroosteolysis dominant type			ORPHA	1	622	6091	147670
HP:0004326	HP:0004326	Cachexia	0	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0004326	HP:0004326	Cachexia	0	LPIN2 CL E G H	9663	77297				ORPHA	1	931	14450	605519
HP:0004326	HP:0004326	Cachexia	0	MAFB CL E G H	9935	2774	Hydrocephalus growth retardation skeletal anomalies			ORPHA	1	153	6408	608968
HP:0004326	HP:0004326	Cachexia	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1925	6990	300005
HP:0004326	HP:0004326	Cachexia	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0004326	HP:0004326	Cachexia	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0004326	HP:0004326	Cachexia	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0004326	HP:0004326	Cachexia	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0004326	HP:0004326	Cachexia	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0004326	HP:0004326	Cachexia	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0004326	HP:0004326	Cachexia	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0004326	HP:0004326	Cachexia	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0004326	HP:0004326	Cachexia	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0004326	HP:0004326	Cachexia	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0004326	HP:0004326	Cachexia	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0004326	HP:0004326	Cachexia	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0004326	HP:0004326	Cachexia	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0004326	HP:0004326	Cachexia	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0004326	HP:0004326	Cachexia	0	NBN CL E G H	4683	647				ORPHA	1	3250	7652	602667
HP:0004326	HP:0004326	Cachexia	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	2001	16068	605925
HP:0004326	HP:0004326	Cachexia	0	PLA2G6 CL E G H	8398	35069				ORPHA	1	775	9039	603604
HP:0004326	HP:0004326	Cachexia	0	PLK4 CL E G H	10733	808	Baker Vinters syndrome			ORPHA	1	568	11397	605031
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0004326	HP:0004326	Cachexia	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	1	3012	9588	601728
HP:0004326	HP:0004326	Cachexia	0	RBBP8 CL E G H	5932	808	Baker Vinters syndrome			ORPHA	1	324	9891	604124
HP:0004326	HP:0004326	Cachexia	0	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0004326	HP:0004326	Cachexia	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0004326	HP:0004326	Cachexia	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0004326	HP:0004326	Cachexia	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0004326	HP:0004326	Cachexia	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0004326	HP:0004326	Cachexia	0	TGFB1 CL E G H	7040	1328	Chromosome 15 ring		CN035931	ORPHA	1	286	11766	190180
HP:0004326	HP:0004326	Cachexia	0	TRAIP CL E G H	10293	808	Baker Vinters syndrome			ORPHA	1	119	30764	605958
HP:0004326	HP:0004326	Cachexia	0	TRIM37 CL E G H	4591	2576	Grubben de Cock Borghgraef syndrome			ORPHA	1	374	7523	605073
HP:0004326	HP:0004326	Cachexia	0	TRPV4 CL E G H	59341	1216				ORPHA	1	1018	18083	605427
HP:0004326	HP:0004326	Cachexia	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0004326	HP:0004326	Cachexia	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004326	HP:0004326	Cachexia	0	COL1A1 CL E G H	1277	287				ORPHA	0	2428	2197	120150
HP:0004326	HP:0004326	Cachexia	0	COL5A1 CL E G H	1289	287				ORPHA	0	2909	2209	120215
HP:0004326	HP:0004326	Cachexia	0	COL5A2 CL E G H	1290	287				ORPHA	0	1513	2210	120190
HP:0004326	HP:0004326	Cachexia	0	EWSR1 CL E G H	2130	83469				ORPHA	0	74	3508	133450
HP:0004326	HP:0004326	Cachexia	0	HSPG2 CL E G H	3339	800				ORPHA	0	2497	5273	142461
HP:0004326	HP:0004326	Cachexia	0	LMNA CL E G H	4000	157973				ORPHA	0	1814	6636	150330
HP:0004326	HP:0004326	Cachexia	0	NDP CL E G H	4693	649				ORPHA	0	299	7678	300658
HP:0004326	HP:0004326	Cachexia	0	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome		C0265326	ORPHA	0	3012	9588	601728
HP:0004326	HP:0004326	Cachexia	0	SLC52A2 CL E G H	79581	97229				ORPHA	0	520	30224	607882
HP:0004326	HP:0004326	Cachexia	0	SLC52A3 CL E G H	113278	97229				ORPHA	0	464	16187	613350
HP:0004326	HP:0004326	Cachexia	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	0	1816	26582	612636
HP:0004326	HP:0004326	Cachexia	0	WT1 CL E G H	7490	83469				ORPHA	0	1371	12796	607102

Genes (75) :AKT1 ATR ATRIP CENPE CENPJ CEP152 COL12A1 COL1A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COX1 COX2 COX3 CUL4B ERCC2 ERCC3 ERCC4 ERCC5 EWSR1 HSPG2 INSR LIPA LMNA LPIN2 MAFB MECP2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NBN ND1 ND4 ND5 ND6 NDP PCNT PLA2G6 PLK4 POLG PTEN RBBP8 RRM2B SLC52A2 SLC52A3 SLC6A8 SLC9A6 SUCLA2 TGFB1 TRAIP TRIM37 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV4 TYMP UNC80 WT1

Diseases (32) :744 808 610 287 550 85293 220295 610965 83469 800 508 75233 157973 77297 2774 312750 647 649 35069 603041 613662 298 109 612075 97229 52503 85278 1933 1328 2576 1216 616801

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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