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:
Abnormal renal physiology (HP:0012211)

Parent Node:
Renal insufficiency (HP:0000083)

..Starting node
..Acute kidney injury (HP:0001919)

Term ID:

1919

Name:

Acute kidney injury

Synonym:

Acute kidney failure; Acute renal failure

Definition:

Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).

Comments:

Reference:

HP:0001919

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic kidney disease (HP:0012622)

Reversible renal failure (HP:0004713)

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:0001919	HP:0001919	Acute kidney injury	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0001919	HP:0001919	Acute kidney injury	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent	19
HP:0001919	HP:0001919	Acute kidney injury	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	53
HP:0001919	HP:0001919	Acute kidney injury	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0001919	HP:0001919	Acute kidney injury	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0001919	HP:0001919	Acute kidney injury	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0001919	HP:0001919	Acute kidney injury	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	39
HP:0001919	HP:0001919	Acute kidney injury	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0001919	HP:0001919	Acute kidney injury	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0001919	HP:0001919	Acute kidney injury	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	86
HP:0001919	HP:0001919	Acute kidney injury	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0001919	HP:0001919	Acute kidney injury	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001919	HP:0001919	Acute kidney injury	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0001919	HP:0001919	Acute kidney injury	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	57
HP:0001919	HP:0001919	Acute kidney injury	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0001919	HP:0001919	Acute kidney injury	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	9
HP:0001919	HP:0001919	Acute kidney injury	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	27
HP:0001919	HP:0001919	Acute kidney injury	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	5
HP:0001919	HP:0001919	Acute kidney injury	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001919	HP:0001919	Acute kidney injury	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001919	HP:0001919	Acute kidney injury	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0001919	HP:0001919	Acute kidney injury	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0001919	HP:0001919	Acute kidney injury	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	11
HP:0001919	HP:0001919	Acute kidney injury	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare
HP:0001919	HP:0001919	Acute kidney injury	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001919	HP:0001919	Acute kidney injury	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0001919	HP:0001919	Acute kidney injury	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001919	HP:0001919	Acute kidney injury	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0001919	HP:0001919	Acute kidney injury	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0001919	HP:0001919	Acute kidney injury	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0001919	HP:0001919	Acute kidney injury	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001919	HP:0001919	Acute kidney injury	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0001919	HP:0001919	Acute kidney injury	0	PRPS1 CL E G H	5631	9462	ORPHA:411536	Mild phosphoribosylpyrophosphate synthetase superactivity	HP:0040283 - Occasional	49
HP:0001919	HP:0001919	Acute kidney injury	0	PRPS1 CL E G H	5631	9462	ORPHA:411543	Severe phosphoribosylpyrophosphate synthetase superactivity	HP:0040283 - Occasional	49
HP:0001919	HP:0001919	Acute kidney injury	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0001919	HP:0001919	Acute kidney injury	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0001919	HP:0001919	Acute kidney injury	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0001919	HP:0001919	Acute kidney injury	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040283 - Occasional	2
HP:0001919	HP:0001919	Acute kidney injury	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	56
HP:0001919	HP:0001919	Acute kidney injury	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	.	56
HP:0001919	HP:0001919	Acute kidney injury	0	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0001919	HP:0001919	Acute kidney injury	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	57
HP:0001919	HP:0001919	Acute kidney injury	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001919	HP:0001919	Acute kidney injury	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	2
HP:0001919	HP:0001919	Acute kidney injury	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0001919	HP:0001919	Acute kidney injury	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60

Genes (39) :ALDOA APRT BSND C3 CACNA1S CCND1 CD46 CFB CFH CFHR1 CFHR3 CFI CLCNKA CLCNKB CORIN COX1 COX3 DGKE DZIP1L FLT1 HELLPAR HNF1B HPRT1 IFT140 LDHA LPIN1 PIGA PKHD1 PRPS1 PYGM RYR1 SAA1 SLC22A12 SLC26A1 SLC2A9 STAT2 STOX1 TCN2 THBD

Diseases (32) :ORPHA:57 ORPHA:976 ORPHA:89938 OMIM:612925 ORPHA:423 ORPHA:29073 ORPHA:244242 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 ORPHA:275555 ORPHA:99845 OMIM:615008 ORPHA:731 ORPHA:93111 ORPHA:79233 OMIM:266920 ORPHA:284426 OMIM:268200 ORPHA:447 ORPHA:411536 ORPHA:411543 ORPHA:368 ORPHA:466650 ORPHA:85445 ORPHA:94088 OMIM:220150 OMIM:167030 OMIM:618886 ORPHA:859 OMIM:612926

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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