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 creatine kinase concentration (HP:0040081)

Parent Node:
Elevated circulating creatine kinase concentration (HP:0003236)

..Starting node
..Mildly elevated creatine kinase (HP:0008180)

Term ID:

8180

Name:

Mildly elevated creatine kinase

Synonym:

Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase

Definition:

Comments:

Reference:

HP:0008180

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated creatine kinase after exercise (HP:0008331)

Extremely elevated creatine kinase (HP:0030235)

Highly elevated creatine kinase (HP:0030234)

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:0008180	HP:0008180	Mildly elevated creatine kinase	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent	3
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.	137
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent	101
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0008180	HP:0008180	Mildly elevated creatine kinase	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63

Genes (63) :ACTA1 ADSS1 ALG2 BIN1 CACNA1S CHCHD10 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COL9A3 CRPPA DNM2 DOK7 ERGIC1 FKRP FKTN FLNC GABRA3 GFPT1 GNE HADH KBTBD13 KCNE3 KCNJ18 KLHL41 LMNA MATR3 MICU1 MPV17 MSTO1 MTMR14 MYF6 MYH14 MYH7 MYPN NEB PEX6 PLEKHG5 POLG POLRMT POMT1 QRICH1 RYR1 SCN4A SCYL2 SQSTM1 TFG TIA1 TPM2 TPM3 TRIP4 TRMU TRNE TRNL1 TRNL2 TRNN TRNS1 TTN TWNK UBA1 VCP

Diseases (45) :ORPHA:171439 OMIM:161800 OMIM:617030 OMIM:616228 ORPHA:169189 ORPHA:681 ORPHA:79102 ORPHA:457050 ORPHA:536516 ORPHA:1143 OMIM:254090 OMIM:600969 ORPHA:370980 OMIM:160150 OMIM:254300 OMIM:614065 OMIM:610542 ORPHA:602 ORPHA:71212 OMIM:181350 ORPHA:600 ORPHA:401768 OMIM:618400 ORPHA:502423 OMIM:614369 ORPHA:397744 ORPHA:59135 OMIM:160500 OMIM:608358 OMIM:256030 ORPHA:95433 OMIM:615376 OMIM:258450 OMIM:607459 OMIM:619743 OMIM:617982 ORPHA:603 OMIM:604484 OMIM:604454 ORPHA:486815 ORPHA:254864 ORPHA:663 ORPHA:609 ORPHA:1145 ORPHA:329478

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