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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004326	HP:0004326	Cachexia	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0004326	HP:0004326	Cachexia	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0004326	HP:0004326	Cachexia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0004326	HP:0004326	Cachexia	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0004326	HP:0004326	Cachexia	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0004326	HP:0004326	Cachexia	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0004326	HP:0004326	Cachexia	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	1
HP:0004326	HP:0004326	Cachexia	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0004326	HP:0004326	Cachexia	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0004326	HP:0004326	Cachexia	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0004326	HP:0004326	Cachexia	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0004326	HP:0004326	Cachexia	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0004326	HP:0004326	Cachexia	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0004326	HP:0004326	Cachexia	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0004326	HP:0004326	Cachexia	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0004326	HP:0004326	Cachexia	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0004326	HP:0004326	Cachexia	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0004326	HP:0004326	Cachexia	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0004326	HP:0004326	Cachexia	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0004326	HP:0004326	Cachexia	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0004326	HP:0004326	Cachexia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0004326	HP:0004326	Cachexia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0004326	HP:0004326	Cachexia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0004326	HP:0004326	Cachexia	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0004326	HP:0004326	Cachexia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0004326	HP:0004326	Cachexia	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0004326	HP:0004326	Cachexia	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	57
HP:0004326	HP:0004326	Cachexia	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0004326	HP:0004326	Cachexia	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent	73
HP:0004326	HP:0004326	Cachexia	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0004326	HP:0004326	Cachexia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0004326	HP:0004326	Cachexia	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0004326	HP:0004326	Cachexia	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0004326	HP:0004326	Cachexia	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	97
HP:0004326	HP:0004326	Cachexia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0004326	HP:0004326	Cachexia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0004326	HP:0004326	Cachexia	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0004326	HP:0004326	Cachexia	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0004326	HP:0004326	Cachexia	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0004326	HP:0004326	Cachexia	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0004326	HP:0004326	Cachexia	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0004326	HP:0004326	Cachexia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0004326	HP:0004326	Cachexia	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0004326	HP:0004326	Cachexia	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0004326	HP:0004326	Cachexia	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0004326	HP:0004326	Cachexia	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0004326	HP:0004326	Cachexia	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0004326	HP:0004326	Cachexia	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0004326	HP:0004326	Cachexia	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0004326	HP:0004326	Cachexia	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0004326	HP:0004326	Cachexia	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57
HP:0004326	HP:0004326	Cachexia	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0004326	HP:0004326	Cachexia	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0004326	HP:0004326	Cachexia	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent	93
HP:0004326	HP:0004326	Cachexia	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0004326	HP:0004326	Cachexia	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0004326	HP:0004326	Cachexia	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0004326	HP:0004326	Cachexia	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0004326	HP:0004326	Cachexia	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	3
HP:0004326	HP:0004326	Cachexia	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0004326	HP:0004326	Cachexia	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0004326	HP:0004326	Cachexia	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent	78
HP:0004326	HP:0004326	Cachexia	0	TRPV4 CL E G H	59341	18083	ORPHA:1216	Autosomal dominant congenital benign spinal muscular atrophy	HP:0040281 - Very frequent	214
HP:0004326	HP:0004326	Cachexia	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0004326	HP:0004326	Cachexia	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0004326	HP:0004326	Cachexia	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0004326	HP:0004326	Cachexia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0004326	HP:0004326	Cachexia	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional	177

Genes (62) :ACADM AKT1 ALS2 ATR ATRIP BMPR1A CALR CENPE CENPJ CEP152 CFTR CNTNAP1 CUL4B ERCC2 ERCC3 ERCC4 ERCC5 EWSR1 FOXP3 FUS GALC GBA1 GFAP HSPG2 IRF4 JAK2 LIG3 LIPA LMNA LPIN2 MAFB MECP2 MPL NALCN NBN NDP NUP85 PCNT PLK4 POLG PSAP PTEN RBBP8 RRM2B SCNN1A SCNN1B SCNN1G SIGMAR1 SLC6A8 SLC9A6 SPG11 SPTLC1 STUB1 SUCLA2 TET2 TGFB1 TRAIP TRIM37 TRPV4 TYMP UNC80 WT1

Diseases (39) :ORPHA:42 ORPHA:744 ORPHA:300605 ORPHA:808 ORPHA:79076 ORPHA:824 ORPHA:60033 OMIM:618186 ORPHA:85293 ORPHA:220295 OMIM:610965 ORPHA:83469 ORPHA:37042 ORPHA:206436 ORPHA:2072 ORPHA:363717 ORPHA:800 ORPHA:3452 ORPHA:298 ORPHA:75233 ORPHA:157973 ORPHA:77297 ORPHA:2774 OMIM:312750 ORPHA:371364 ORPHA:647 ORPHA:649 OMIM:603041 OMIM:613662 ORPHA:109 OMIM:612075 ORPHA:52503 ORPHA:85278 OMIM:618093 ORPHA:1933 ORPHA:1328 ORPHA:2576 ORPHA:1216 OMIM:616801

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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