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 muscle physiology (HP:0011804)

Parent Node:
Muscle spasm (HP:0003394)

..Starting node
..Exercise-induced muscle cramps (HP:0003710)

Term ID:

3710

Name:

Exercise-induced muscle cramps

Synonym:

Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion

Definition:

Sudden and involuntary contractions of one or more muscles brought on by physical exertion.

Comments:

Reference:

HP:0003710

Genes and Diseases:

Child Nodes:

........

Exercise-induced leg cramps (HP:0008991)

Sister Nodes:

Cold-induced muscle cramps (HP:0003449)

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:0003710	HP:0003710	Exercise-induced muscle cramps	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum	.	148
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.	26
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.	21
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040282 - Frequent	166
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0003710	HP:0003710	Exercise-induced muscle cramps	0	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0003710	HP:0008991	Exercise-induced leg cramps	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12

Genes (16) :ATP2A1 CAV3 CHCHD10 CPT2 DMD HINT1 LAMA2 LAMP2 MLIP PFKM PGAM2 PGK1 PYGL PYGM RYR1 SLC16A1

Diseases (19) :OMIM:601003 OMIM:123320 OMIM:606072 ORPHA:276435 ORPHA:228302 ORPHA:228305 ORPHA:206546 ORPHA:324442 OMIM:618138 OMIM:300257 OMIM:620138 OMIM:232800 OMIM:261670 OMIM:300653 ORPHA:369 ORPHA:368 OMIM:232600 ORPHA:466650 OMIM:245340

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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