Human Phenotype Ontology 
Grandparent Node:
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Abnormal pattern of respiration (HP:0002793)help
Parent Node:
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Apnea (HP:0002104)help
..Starting node
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Central apnea (HP:0002871)help
Term ID: 2871
Name: Central apnea
Synonym: Central apnoea
Definition: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
Comments:
Reference: HP:0002871
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandApneic episodes in infancy (HP:0005949) help
..expandApneic episodes precipitated by illness, fatigue, stress (HP:0002872) help
..expandSleep apnea (HP:0010535) help
..expandSudden episodic apnea (HP:0002882) 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:0002871HP:0002871Central apnea0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002871HP:0002871Central apnea0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0002871HP:0002871Central apnea0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002871HP:0002871Central apnea0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002871HP:0002871Central apnea0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002871HP:0002871Central apnea0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002871HP:0002871Central apnea0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002871HP:0002871Central apnea0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0002871HP:0002871Central apnea0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002871HP:0002871Central apnea0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002871HP:0002871Central apnea0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002871HP:0002871Central apnea0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002871HP:0002871Central apnea0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002871HP:0002871Central apnea0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002871HP:0002871Central apnea0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002871HP:0002871Central apnea0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002871HP:0002871Central apnea0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002871HP:0002871Central apnea0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002871HP:0002871Central apnea0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002871HP:0002871Central apnea0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002871HP:0002871Central apnea0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002871HP:0002871Central apnea0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002871HP:0002871Central apnea0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002871HP:0002871Central apnea0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0002871HP:0002871Central apnea0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002871HP:0002871Central apnea0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002871HP:0002871Central apnea0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002871HP:0002871Central apnea0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002871HP:0002871Central apnea0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002871HP:0002871Central apnea0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002871HP:0002871Central apnea0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002871HP:0002871Central apnea0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002871HP:0002871Central apnea0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002871HP:0002871Central apnea0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002871HP:0002871Central apnea0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002871HP:0002871Central apnea0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002871HP:0002871Central apnea0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0002871HP:0002871Central apnea0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0002871HP:0002871Central apnea0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0002871HP:0002871Central apnea0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0002871HP:0002871Central apnea0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0002871HP:0002871Central apnea0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0002871HP:0002871Central apnea0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002871HP:0002871Central apnea0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002871HP:0002871Central apnea0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002871HP:0002871Central apnea0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002871HP:0002871Central apnea0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002871HP:0002871Central apnea0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0002871HP:0002871Central apnea0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0002871HP:0002871Central apnea0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002871HP:0002871Central apnea0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002871HP:0002871Central apnea0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002871HP:0002871Central apnea0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002871HP:0002871Central apnea0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0002871HP:0002871Central apnea0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002871HP:0002871Central apnea0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002871HP:0002871Central apnea0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002871HP:0002871Central apnea0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002871HP:0002871Central apnea0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0002871HP:0002871Central apnea0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002871HP:0002871Central apnea0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002871HP:0002871Central apnea0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002871HP:0002871Central apnea0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0002871HP:0002871Central apnea0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002871HP:0002871Central apnea0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0002871HP:0002871Central apnea0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0002871HP:0002871Central apnea0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0002871HP:0002871Central apnea0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002871HP:0002871Central apnea0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002871HP:0002871Central apnea0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002871HP:0002871Central apnea0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0002871HP:0002871Central apnea0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002871HP:0002871Central apnea0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002871HP:0002871Central apnea0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002871HP:0002871Central apnea0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040283 - Occasional1
HP:0002871HP:0002871Central apnea0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002871HP:0002871Central apnea0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0002871HP:0002871Central apnea0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002871HP:0002871Central apnea0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002871HP:0002871Central apnea0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040283 - Occasional39
HP:0002871HP:0002871Central apnea0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0002871HP:0002871Central apnea0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002871HP:0002871Central apnea0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002871HP:0002871Central apnea0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0002871HP:0002871Central apnea0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040282 - Frequent102
HP:0002871HP:0002871Central apnea0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002871HP:0002871Central apnea0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002871HP:0002871Central apnea0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0002871HP:0002871Central apnea0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002871HP:0002871Central apnea0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34


Genes (39) :AHI1 ARSL ATP1A3 CDON CEP290 CISD2 DISP1 DLL1 FGF8 FGFR1 FGFR3 FOXH1 GAS1 GLI2 INPP5E MAGEL2 NDN NODAL OCA2 PLCH1 PSAP PTCH1 RPGRIP1L SHH SIX3 SLC2A1 SMC1A SNRPN STAG2 STIL SYT1 TBR1 TDGF1 TECPR2 TGIF1 TMEM216 TSEN54 WFS1 ZIC2

Diseases (23) :OMIM:608629 ORPHA:79345 OMIM:619606 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:610188 ORPHA:3463 OMIM:616482 OMIM:213300 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:611722 OMIM:611560 ORPHA:71277 ORPHA:522077 ORPHA:1617 ORPHA:320385 OMIM:615031 OMIM:608091 ORPHA:166063
 

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