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 enzyme/coenzyme activity (HP:0012379)

Parent Node:
Abnormal lactate dehydrogenase level (HP:0045040)

..Starting node
..Increased circulating lactate dehydrogenase concentration (HP:0025435)

Term ID:

25435

Name:

Increased circulating lactate dehydrogenase concentration

Synonym:

Increased lactate dehydrogenase level

Definition:

An elevated level of the enzyme lactate dehydrogenase in the blood circulation.

Comments:

Reference:

HP:0025435

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced lactate dehydrogenase B level (HP:0045041)

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:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	1
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	57
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	97
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040282 - Frequent	11
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional	13
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	13
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	8
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	16
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	3
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0025435	HP:0025435	Increased circulating lactate dehydrogenase concentration	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (61) :ABCG8 ACAD9 AKR1D1 ALDOA CALR CAV3 CBLIF CD46 CDAN1 CFH CFI CHEK2 COX1 COX3 CPT2 FLI1 GAA HBB HELLPAR HLA-DRB1 HMOX1 IRAK1 JAK2 KCNN4 KIF23 KLF1 KY LIPA LPIN1 LYST MLIP MPL MVK MYC NSUN2 OCRL PIEZO1 PIGA PIK3CG PITRM1 PLA2G6 PLEC PNPLA2 RB1 RHAG RHCE RHD RPS14 SLC19A1 SLC25A13 SLC4A1 SLC7A7 SPP1 STAT4 TCIRG1 TET2 TP53 USB1 VPS13A XK ZNFX1

Diseases (48) :OMIM:210250 ORPHA:99901 ORPHA:79303 OMIM:611881 ORPHA:824 OMIM:614321 OMIM:261000 ORPHA:244242 OMIM:224120 ORPHA:668 ORPHA:99845 OMIM:600649 ORPHA:370348 ORPHA:308552 OMIM:232300 ORPHA:232 ORPHA:747 OMIM:614034 ORPHA:93552 ORPHA:3202 OMIM:105600 OMIM:613673 OMIM:617114 OMIM:278000 OMIM:268200 ORPHA:167 OMIM:620138 OMIM:610377 ORPHA:543 OMIM:611091 OMIM:300555 ORPHA:447 OMIM:619802 OMIM:619405 ORPHA:35069 ORPHA:254361 ORPHA:98908 ORPHA:3203 ORPHA:71275 ORPHA:86841 OMIM:601775 ORPHA:247598 ORPHA:470 OMIM:259700 OMIM:604173 ORPHA:2388 OMIM:300842 OMIM:619644

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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