Human Phenotype Ontology

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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:
Acidosis (HP:0001941)

Parent Node:
Aminoaciduria (HP:0003355)

Parent Node:
Lactic acidosis (HP:0003128)

..Starting node
..Lacticaciduria (HP:0003648)

Term ID:

3648

Name:

Lacticaciduria

Synonym:

High urine lactic acid levels; Increased urine lactate

Definition:

An increased concentration of lactic acid in the urine.

Comments:

Reference:

HP:0003648

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic lactic acidosis (HP:0004925)

Congenital lactic acidosis (HP:0004902)

Exercise-induced lactic acidemia (HP:0004901)

Intermittent lactic acidemia (HP:0004913)

Persistent lactic acidosis (HP:0004898)

Severe lactic acidosis (HP:0004900)

Stress/infection-induced lactic acidosis (HP:0004897)

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:0003648	HP:0003648	Lacticaciduria	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0003648	HP:0003648	Lacticaciduria	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0003648	HP:0003648	Lacticaciduria	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0003648	HP:0003648	Lacticaciduria	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0003648	HP:0003648	Lacticaciduria	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0003648	HP:0003648	Lacticaciduria	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0003648	HP:0003648	Lacticaciduria	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0003648	HP:0003648	Lacticaciduria	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0003648	HP:0003648	Lacticaciduria	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0003648	HP:0003648	Lacticaciduria	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0003648	HP:0003648	Lacticaciduria	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003648	HP:0003648	Lacticaciduria	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0003648	HP:0003648	Lacticaciduria	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0003648	HP:0003648	Lacticaciduria	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0003648	HP:0003648	Lacticaciduria	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003648	HP:0003648	Lacticaciduria	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0003648	HP:0003648	Lacticaciduria	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0003648	HP:0003648	Lacticaciduria	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0003648	HP:0003648	Lacticaciduria	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent

Genes (28) :ATP6 ATPAF2 BCS1L GATM LDHD LIPT1 LYRM4 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA9 NDUFB10 NDUFS4 NFS1 NFU1 PDP1 PET117 SDHD SLC25A21 SUCLG1 TRMU TRNK TRNL1 TRNV TRNW

Diseases (18) :ORPHA:255210 OMIM:604273 OMIM:124000 OMIM:134600 OMIM:245450 OMIM:616299 OMIM:615595 OMIM:618247 OMIM:619003 OMIM:252010 OMIM:619386 OMIM:605711 ORPHA:79246 OMIM:619063 OMIM:619167 OMIM:618811 OMIM:245400 OMIM:613070

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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