Human Phenotype Ontology

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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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of temperature regulation (HP:0004370)

..Starting node
..Malignant hyperthermia (HP:0002047)

Term ID:

2047

Name:

Malignant hyperthermia

Synonym:

Malignant hyperthermia with anaesthesia; Malignant hyperthermia with anesthesia

Definition:

Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.

Comments:

Reference:

HP:0002047

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fever (HP:0001945)

Heat intolerance (HP:0002046)

Hypothermia (HP:0002045)

obsolete Impaired thermal sensitivity (HP:0006901)

Temperature instability (HP:0005968)

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:0002047	HP:0002047	Malignant hyperthermia	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional	130
HP:0002047	HP:0002047	Malignant hyperthermia	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0002047	HP:0002047	Malignant hyperthermia	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare	99
HP:0002047	HP:0002047	Malignant hyperthermia	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0002047	HP:0002047	Malignant hyperthermia	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0002047	HP:0002047	Malignant hyperthermia	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0002047	HP:0002047	Malignant hyperthermia	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0002047	HP:0002047	Malignant hyperthermia	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0002047	HP:0002047	Malignant hyperthermia	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0002047	HP:0002047	Malignant hyperthermia	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare	167
HP:0002047	HP:0002047	Malignant hyperthermia	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	86
HP:0002047	HP:0002047	Malignant hyperthermia	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	56
HP:0002047	HP:0002047	Malignant hyperthermia	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0002047	HP:0002047	Malignant hyperthermia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0002047	HP:0002047	Malignant hyperthermia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0002047	HP:0002047	Malignant hyperthermia	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	1
HP:0002047	HP:0002047	Malignant hyperthermia	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare	7
HP:0002047	HP:0002047	Malignant hyperthermia	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare	19
HP:0002047	HP:0002047	Malignant hyperthermia	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0002047	HP:0002047	Malignant hyperthermia	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	166
HP:0002047	HP:0002047	Malignant hyperthermia	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent	48
HP:0002047	HP:0002047	Malignant hyperthermia	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	HP:0040283 - Occasional	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040281 - Very frequent	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0002047	HP:0002047	Malignant hyperthermia	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0002047	HP:0002047	Malignant hyperthermia	0	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.	1134
HP:0002047	HP:0002047	Malignant hyperthermia	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0002047	HP:0002047	Malignant hyperthermia	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent	14
HP:0002047	HP:0002047	Malignant hyperthermia	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional
HP:0002047	HP:0002047	Malignant hyperthermia	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158

Genes (26) :ABCA12 ATP2A1 BIN1 CACNA1S CHRNA1 CHRND CHRNG CLCF1 CRLF1 DNM2 EDAR EDARADD ELP1 HSPG2 KDF1 MTMR14 MYF6 MYH3 NALCN PGM1 RYR1 SCN4A SCN5A STAC3 TRAF6 TRAPPC9

Diseases (24) :ORPHA:457 OMIM:601003 ORPHA:169189 ORPHA:423 OMIM:253290 ORPHA:1545 ORPHA:1810 ORPHA:1764 ORPHA:800 OMIM:255800 OMIM:193700 ORPHA:2053 OMIM:614921 ORPHA:597 OMIM:117000 ORPHA:424107 ORPHA:466650 OMIM:619542 OMIM:145600 ORPHA:682 OMIM:272120 OMIM:255995 ORPHA:168572 ORPHA:352530

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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