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
..Heat intolerance (HP:0002046)

Term ID:

2046

Name:

Heat intolerance

Synonym:

Heat intolerance; Intolerance to heat and fevers

Definition:

The inability to maintain a comfortable body temperature in warm or hot weather.

Comments:

Reference:

HP:0002046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fever (HP:0001945)

Hypothermia (HP:0002045)

Malignant hyperthermia (HP:0002047)

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:0002046	HP:0002046	Heat intolerance	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0002046	HP:0002046	Heat intolerance	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0002046	HP:0002046	Heat intolerance	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002046	HP:0002046	Heat intolerance	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0002046	HP:0002046	Heat intolerance	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0002046	HP:0002046	Heat intolerance	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0002046	HP:0002046	Heat intolerance	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0002046	HP:0002046	Heat intolerance	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002046	HP:0002046	Heat intolerance	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002046	HP:0002046	Heat intolerance	0	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands	.	1
HP:0002046	HP:0002046	Heat intolerance	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0002046	HP:0002046	Heat intolerance	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0002046	HP:0002046	Heat intolerance	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0002046	HP:0002046	Heat intolerance	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0002046	HP:0002046	Heat intolerance	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent	173
HP:0002046	HP:0002046	Heat intolerance	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002046	HP:0002046	Heat intolerance	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:0002046	HP:0002046	Heat intolerance	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0002046	HP:0002046	Heat intolerance	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0002046	HP:0002046	Heat intolerance	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22
HP:0002046	HP:0002046	Heat intolerance	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	HP:0040283 - Occasional	7
HP:0002046	HP:0002046	Heat intolerance	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0002046	HP:0002046	Heat intolerance	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0002046	HP:0002046	Heat intolerance	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0002046	HP:0002046	Heat intolerance	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0002046	HP:0002046	Heat intolerance	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0002046	HP:0002046	Heat intolerance	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0002046	HP:0002046	Heat intolerance	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002046	HP:0002046	Heat intolerance	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0002046	HP:0002046	Heat intolerance	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278
HP:0002046	HP:0002046	Heat intolerance	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278

Genes (23) :ALOXE3 CLDN10 EDA EDAR EDARADD HNRNPK ITPR2 KRT14 KRT5 LBX1 LDHA MAP2K1 MAP2K2 MBTPS2 NECTIN4 NFKBIA OCA2 ORAI1 POFUT1 POGLUT1 PSENEN SHANK3 UBE3A

Diseases (24) :OMIM:606545 OMIM:617671 OMIM:305100 OMIM:129490 OMIM:224900 ORPHA:352665 ORPHA:453504 OMIM:106190 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:79145 OMIM:619483 ORPHA:284426 OMIM:615279 OMIM:615280 ORPHA:2273 OMIM:613573 OMIM:612132 ORPHA:98794 OMIM:612782 OMIM:606232 ORPHA:411511 ORPHA:98795

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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