Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormal pattern of respiration (HP:0002793)help
..Starting node
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Hyperventilation (HP:0002883)help
Term ID: 2883
Name: Hyperventilation
Synonym: Rapid breathing
Definition: Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
Comments:
Reference: HP:0002883
Genes and Diseases:
 
       Child Nodes:
........expandIntermittent hyperventilation (HP:0004879) help
................... HP:0005941 Intermittent hyperpnea at rest

 Sister Nodes: 
..expandApnea (HP:0002104) help
..expandCheyne-Stokes respiration (HP:0012196) help
..expandHypopnea (HP:0040213) help
..expandHypoventilation (HP:0002791) help
..expandIrregular respiration (HP:0012195) help
..expandNight gasping (HP:0031503) help
..expandParadoxical respiration (HP:0030207) help
..expandTachypnea (HP:0002789) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002883HP:0002883Hyperventilation0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002883HP:0002883Hyperventilation0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0002883HP:0002883Hyperventilation0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional94
HP:0002883HP:0002883Hyperventilation0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0002883HP:0002883Hyperventilation0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002883HP:0002883Hyperventilation0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002883HP:0002883Hyperventilation0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0002883HP:0002883Hyperventilation0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional188
HP:0002883HP:0002883Hyperventilation0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional225
HP:0002883HP:0002883Hyperventilation0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional88
HP:0002883HP:0002883Hyperventilation0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040283 - Occasional16
HP:0002883HP:0002883Hyperventilation0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002883HP:0002883Hyperventilation0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1HP:0040284 - Very rare518
HP:0002883HP:0002883Hyperventilation0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0002883HP:0002883Hyperventilation0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional1
HP:0002883HP:0002883Hyperventilation0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional172
HP:0002883HP:0002883Hyperventilation0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0002883HP:0002883Hyperventilation0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0002883HP:0002883Hyperventilation0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0002883HP:0002883Hyperventilation0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0002883HP:0002883Hyperventilation0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0002883HP:0002883Hyperventilation0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0002883HP:0002883Hyperventilation0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0002883HP:0002883Hyperventilation0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040283 - Occasional321
HP:0002883HP:0002883Hyperventilation0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0002883HP:0002883Hyperventilation0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0002883HP:0002883Hyperventilation0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0002883HP:0002883Hyperventilation0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002883HP:0002883Hyperventilation0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040282 - Frequent241
HP:0002883HP:0002883Hyperventilation0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0002883HP:0002883Hyperventilation0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0002883HP:0002883Hyperventilation0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002883HP:0002883Hyperventilation0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002883HP:0004879Intermittent hyperventilation1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002883HP:0004879Intermittent hyperventilation1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002883HP:0004879Intermittent hyperventilation1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0002883HP:0004879Intermittent hyperventilation1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002883HP:0004879Intermittent hyperventilation1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0002883HP:0005941Intermittent hyperpnea at rest2 CL E G H


Genes (41) :ARL13B ATP6 BTD CABP4 CACNA1H CAMK2B CASK CDKL5 CHRNA2 CHRNA4 CHRNB2 CIZ1 CNTNAP2 CPLANE1 CRH DEPDC5 FBP1 GABBR2 GABRA1 GABRB3 GABRG2 HLCS JRK KCNT1 MECP2 ND1 ND2 ND3 ND4 ND5 ND6 NRXN1 SLC2A1 SYT1 TCF4 TLK2 TRNK TRNL1 TRNV TRNW UQCRFS1

Diseases (23) :OMIM:612291 ORPHA:255210 ORPHA:79241 ORPHA:98784 ORPHA:64280 OMIM:617799 OMIM:300749 OMIM:300672 ORPHA:420492 ORPHA:163681 OMIM:610042 OMIM:614615 OMIM:229700 ORPHA:348 OMIM:617903 OMIM:253270 OMIM:312750 OMIM:614325 ORPHA:522077 ORPHA:2896 OMIM:610954 OMIM:618050 OMIM:618775
 

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