Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 circulating nitrogen compound concentration (HP:0004364)

Parent Node:
Abnormal circulating creatinine concentration (HP:0012100)

Parent Node:
Azotemia (HP:0002157)

..Starting node
..Elevated circulating creatinine concentration (HP:0003259)

Term ID:

3259

Name:

Elevated circulating creatinine concentration

Synonym:

Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine

Definition:

An increased amount of creatinine in the blood.

Comments:

Reference:

HP:0003259

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperammonemia (HP:0001987)

Hyperuricemia (HP:0002149)

Hypouricemia (HP:0003537)

Increased blood urea nitrogen (HP:0003138)

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:0003259	HP:0003259	Elevated circulating creatinine concentration	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	93
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	5
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5	.	92
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2	.	39
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CFB CL E G H	629	1037	OMIM:612924	Hemolytic uremic syndrome, atypical, susceptibility to, 4	.	30
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3	.	57
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	5
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	FAN1 CL E G H	22909	29170	OMIM:614817	Interstitial nephritis, karyomegalic	.	15
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	11
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	6
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	148
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	342
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	106
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	2
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	THBD CL E G H	7056	11784	OMIM:612926	Hemolytic uremic syndrome, atypical, susceptibility to, 6	.	60
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003259	HP:0003259	Elevated circulating creatinine concentration	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95

Genes (45) :ADAMTS13 ALG5 ALG8 ALG9 APRT BICC1 C3 CC2D2A CCND1 CD46 CFB CFH CFHR1 CFHR3 CFI COQ7 CORIN CPT2 CTNS DBH DNAJB11 ELP1 FAN1 FLT1 GANAB HBB HNF1B HPRT1 IFT140 INVS MLIP MUC1 NPHP1 PAX2 PKD1 PKD2 SLC22A12 SLC41A1 SLC4A1 STOX1 THBD TMEM260 TREX1 TTC26 WDR19

Diseases (35) :OMIM:274150 ORPHA:730 OMIM:608104 OMIM:614723 OMIM:612925 OMIM:619111 ORPHA:29073 OMIM:612922 OMIM:612924 OMIM:235400 OMIM:612923 OMIM:616733 ORPHA:275555 OMIM:608836 ORPHA:411634 ORPHA:230 OMIM:223900 OMIM:614817 ORPHA:232 OMIM:137920 ORPHA:79233 OMIM:602088 OMIM:620138 OMIM:174000 OMIM:266900 OMIM:120330 OMIM:613095 OMIM:220150 OMIM:619468 OMIM:179800 OMIM:612926 OMIM:617478 ORPHA:247691 OMIM:619534 OMIM:614376

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen