MCID: CNT097
MIFTS: 56

Central Hypoventilation Syndrome, Congenital malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Central Hypoventilation Syndrome, Congenital

About this section
Sources:
49OMIM, 47Novoseek, 67UniProtKB/Swiss-Prot, 11diseasecard, 23Genetics Home Reference, 51Orphanet, 24GTR, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Central Hypoventilation Syndrome, Congenital:

Name: Central Hypoventilation Syndrome, Congenital 49 47 67
Congenital Central Hypoventilation Syndrome 21 45 22 23 67
Cchs 45 22 23 51 67
Haddad Syndrome 49 23 51 24
Ondine Curse 45 22 51 67
Congenital Failure of Autonomic Control 45 23 67
Congenital Central Alveolar Hypoventilation Syndrome 51 65
Central Congenital Hypoventilation Syndrome 51 24
Congenital Central Hypoventilation 23 65
Central Hypoventilation Syndrome 49 11
Ondine-Hirschsprung Disease 23 51
Ondine Syndrome 23 51
 
Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 49
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome 51
Idiopathic Congenital Central Alveolar Hypoventilation 45
Central Alveolar Hypoventilation Syndrome 65
Sleep-Related Respiratory Failure 65
Primary Alveolar Hypoventilation 45
Cchs with Hirschsprung Disease 65
Ondine-Hirschsprung Syndrome 51
Congenital Ondine Curse 45
Sleep Apnea, Central 65
Ondine's Curse 45

Characteristics:

Orphanet epidemiological data:

51
cchs:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
haddad syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
central hypoventilation syndrome, congenital:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 209880
Orphanet51 661, 99803
ICD10 via Orphanet28 G47.3
UMLS via Orphanet66 C1275808, C1859587
MESH via Orphanet37 C536209
UMLS65 C0520680, C0520681, C1859049 C1275808, C0020681, C1561866, more

Summaries for Central Hypoventilation Syndrome, Congenital

About this section
OMIM:49 Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare... (209880) more...

MalaCards based summary: Central Hypoventilation Syndrome, Congenital, also known as congenital central hypoventilation syndrome, is related to neuroblastoma and hirschsprung disease 1, and has symptoms including short stature, aganglionic megacolon and apnea. An important gene associated with Central Hypoventilation Syndrome, Congenital is PHOX2B (Paired Like Homeobox 2b), and among its related pathways are Endothelins and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include lung, brain and skin, and related mouse phenotypes are normal and vision/eye.

NIH Rare Diseases:45 Congenital central hypoventilation syndrome (cchs) is a disorder of the autonomic nervous system that affects breathing. it causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. symptoms usually begin shortly after birth. affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). cchs is caused by a mutation in the phox2b gene and is inherited in an autosomal dominant manner. however, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. last updated: 1/12/2016

UniProtKB/Swiss-Prot:67 Congenital central hypoventilation syndrome: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.

Genetics Home Reference:23 Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This reaction is impaired in people with CCHS, and they must be supported with a machine to help them breathe (mechanical ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this support 24 hours a day, while others need it only at night.

GeneReviews summary for NBK1427

Related Diseases for Central Hypoventilation Syndrome, Congenital

About this section

Diseases related to Central Hypoventilation Syndrome, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1neuroblastoma28.7ASCL1, BDNF, PHOX2B, TH
2hirschsprung disease 126.0ASCL1, BDNF, EDN3, EDNRB, GDNF, PHOX2B
3lynch syndrome10.3EDN3, RET
4spina bifida occulta10.3EDNRB, RET
5zika fever10.3ASCL1, BDNF
6conjunctival intraepithelial neoplasm10.2EDN3, EDNRB
7labyrinthine unilateral reactive loss10.2EDNRB, RET
8pyloric stenosis10.2GDNF, RET
9parametritis10.1GDNF, RET
10sudden infant death syndrome10.1
11multiple endocrine neoplasia iib10.1GDNF, RET
12anterior spinal artery syndrome10.1
13heritable pulmonary arterial hypertension10.1GDNF, RET
14sleep apnea10.0
15cerebritis10.0
16preretinal fibrosis10.0GDNF, RET
17rohhad10.0
18myopathy with deficiency of iron-sulfur cluster assembly enzyme10.0GDNF, RET
19sheehan syndrome10.0BDNF, GDNF
20tibial nerve palsy10.0BDNF, GDNF
21diabetes mellitus, noninsulin-dependent, 59.9EDN3, EDNRB, RET
22brachydactyly-arterial hypertension syndrome9.9BDNF, TH
23asthenopia9.9BDNF, GDNF
24nasopharynx carcinoma9.9EDN3, EDNRB, RET
25neuronal ceroid-lipofuscinoses9.9BDNF, TH
26spinal muscular atrophy9.8BDNF, GDNF
27pulmonary hypertension9.8
28obstructive sleep apnea9.8
29esophagitis9.8
30down syndrome9.8
31hyperinsulinism9.8
32ganglioneuroblastoma9.8
33hyperglycemia9.8
34ganglioneuroma9.8
35hyperthyroidism9.8
36neuronitis9.8
37influenza9.8
38learning disability9.8
39narcolepsy9.8
40central sleep apnea9.8
41meningitis9.8
42encephalitis9.8
43haemophilus influenzae9.8
44autonomic dysfunction9.8
45hypoxia9.8
46neurosarcoidosis9.8
47pancreatic and cerebellar agenesis9.7GDNF, RET
48central hypoventilation syndrome, congenital9.7EDNRB, GDNF, RET
49spastic ataxia 19.6RET, TH
50liver leiomyosarcoma9.6EDNRB, RET

Graphical network of the top 20 diseases related to Central Hypoventilation Syndrome, Congenital:



Diseases related to central hypoventilation syndrome, congenital

Symptoms for Central Hypoventilation Syndrome, Congenital

About this section

Symptoms by clinical synopsis from OMIM:

209880

Clinical features from OMIM:

209880

Symptoms:

 51 (show all 21)
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • stillbirth/neonatal death
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • strabismus/squint
  • respiratory rhythm disorder
  • apnea/sleep apnea
  • dysautonomia/autonomous nervous sytem anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • death in infancy
  • sensorineural deafness/hearing loss
  • neuroblastoma
  • oligoamnios
  • polyhydramnios
  • fetal immobility/abnormal fetal movements

HPO human phenotypes related to Central Hypoventilation Syndrome, Congenital:

(show all 29)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 aganglionic megacolon hallmark (90%) HP:0002251
3 apnea hallmark (90%) HP:0002104
4 respiratory insufficiency hallmark (90%) HP:0002093
5 strabismus hallmark (90%) HP:0000486
6 cognitive impairment typical (50%) HP:0100543
7 muscular hypotonia typical (50%) HP:0001252
8 seizures typical (50%) HP:0001250
9 cognitive impairment occasional (7.5%) HP:0100543
10 neuroblastoma occasional (7.5%) HP:0003006
11 oligohydramnios occasional (7.5%) HP:0001562
12 polyhydramnios occasional (7.5%) HP:0001561
13 prenatal movement abnormality occasional (7.5%) HP:0001557
14 muscular hypotonia occasional (7.5%) HP:0001252
15 seizures occasional (7.5%) HP:0001250
16 sensorineural hearing impairment occasional (7.5%) HP:0000407
17 feeding difficulties HP:0011968
18 central hypoventilation HP:0007110
19 ganglioneuroblastoma HP:0006747
20 abnormality of temperature regulation HP:0004370
21 ganglioneuroma HP:0003005
22 aganglionic megacolon HP:0002251
23 constipation HP:0002019
24 abnormality of the cardiovascular system HP:0001626
25 hyperhidrosis HP:0000975
26 downslanted palpebral fissures HP:0000494
27 low-set ears HP:0000369
28 posteriorly rotated ears HP:0000358
29 abnormality of the mouth HP:0000153

UMLS symptoms related to Central Hypoventilation Syndrome, Congenital:


transfusion-associated dyspnoea, actual resting dyspnea, breathing abnormally deep, respiratory dyskinesia, increased sweating, platypnea, respiratory distress, trepopnea, dyspnea on exertion, orthopnea, dyspnea, constipation, cheyne-stokes respiration, other and unspecified abnormalities of breathing, sleep disturbances

Drugs & Therapeutics for Central Hypoventilation Syndrome, Congenital

About this section

Drugs for Central Hypoventilation Syndrome, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DesogestrelapprovedPhase 2, Phase 34954024-22-540973
Synonyms:
(17alpha)-13-Ethyl-11-methylene-18,19-dinorpregn-4-en-20-yn-17-ol
(8S,9S,10R,13S,14S,17R)-13-ethyl-17-ethynyl-11-methylidene-1,2,3,6,7,8,9,10,12,14,15,16-dodecahydrocyclopenta[a]phenanthren-17-ol
13 Ethyl 11 methylene 18,19 dinor 17 alpha pregn 4 en 20 yn 17 ol
13-Ethyl-11-methylene-18,19-dinor-17 alpha-pregn-4-en-20-yn-17-ol
13-Ethyl-11-methylene-18,19-dinor-17alpha-pregn-4-en-20-yn-17-ol
17alpha-ethynyl-11-methylidene-18a-homo-estr-4-en-17beta-ol
54024-22-5
AC-308
AC1L24T4
AC1Q282A
C07629
C22H30O
CHEBI:4453
CHEMBL1533
CID40973
Cerazette
D017135
D02367
 
DB00304
DESOGESTREL
Desogestrel (USAN/INN)
Desogestrel [USAN:BAN:INN]
Desogestrelum
Desogestrelum [INN-Latin]
EINECS 258-929-4
HSDB 3593
LMST02030104
LS-62079
MolPort-003-846-424
NCGC00167449-01
ORG 2969
Org-2969
Org2969
Organon Brand of Desogestrel
UNII-81K9V7M3A3
ZINC04097416
alpha-pregn-4-en-20-yn-17-ol, 13-Ethyl-11-methylene-18,19-dinor-17
desogen
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
3Contraceptive AgentsPhase 2, Phase 31706
4HormonesPhase 2, Phase 311748
5ProgestinsPhase 2, Phase 3433
6Hormone AntagonistsPhase 2, Phase 310002
7Contraceptives, OralPhase 2, Phase 33734
8
Estradiolapproved, investigational109450-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Depo-estradiol
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
 
Estrofem Forte
Estrogel
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femring
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
Minivelle
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Vivelle Dot
Vivelle-dot
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
9
Ethinyl Estradiolapproved65957-63-65991
Synonyms:
17 alpha-Ethinylestradiol
17 alpha-Ethynylestradiol
17 alpha-Ethynyloestradiol
17 alpha-ethinyestradiol
17-Ethinyl-3,17-estradiol
17-Ethinyl-3,17-oestradiol
17-Ethinylestradiol
17-Ethynylestradiol
17-Ethynylestradiol ram
17-Ethynyloestradiol
17-alpha-Ethinyl-17-beta-estradiol
17-alpha-Ethynyl-17-beta-oestradiol
17-alpha-Ethynylestradiol
17-alpha-Ethynylestradiol-17-beta
17-alpha-ethynyl estradiol
17-ethinyl-3,17-estradiol
17-ethinyl-3,17-oestradiol
17-ethinylestradiol
17.alpha.-Ethinyl-17.beta.-estradiol
17.alpha.-Ethinylestradiol
17.alpha.-Ethynyl-17.beta.-oestradiol
17.alpha.-Ethynylestradiol
17.alpha.-Ethynylestradiol-l7.beta.
17.alpha.-Ethynyloestradiol
17.alpha.-Ethynyloestradiol-17.beta.
17a-Ethinyl-17b-estradiol
17a-Ethinylestradiol
17a-Ethynyl-17b-oestradiol
17a-Ethynylestradiol
17a-Ethynylestradiol-l7b
17a-Ethynyloestradiol
17a-Ethynyloestradiol-17b
17alpha-Ethinyl estradiol
17alpha-Ethinylestradiol
17alpha-Ethinylestradiol-17beta
17alpha-Ethynylestradiol
17alpha-Ethynyloestradiol
17alpha-Ethynyloestradiol-17beta
17α-ethynylestradiol
406932-93-2
46263_FLUKA
46263_RIEDEL
57-63-6
77538-56-8
AC-2169
AC1L1LK6
AI3-52941
Aethinyloestradiolum
Aethinyoestradiol
Aethinyoestradiol [German]
Alora
Amenoron
Amenorone
Anovlar
BIDD:ER0162
BRN 2419975
Bio-0610
C07534
CCRIS 286
CHEBI:4903
CHEMBL691
CID5991
CPD000058319
Certostat
Chee-O-Gen
Chee-O-Genf
Cyclosa
D004997
D00554
DB00977
Dicromil
Diognat-E
Diogyn E
Diogyn-E
Diprol
Dyloform
E4876_SIGMA
EE
EE(sub 2)
EE2
EINECS 200-342-2
EO
ETHINYLESTRADIOL
Effik Brand of Ethinyl Estradiol
Ertonyl
Esclim
Esteed
Estigyn
Estinyl
Estinyl (TN)
Eston-E
Estopherol
Estoral
Estoral (Orion)
Estoral (VAN)
Estoral [Orion]
Estoral {[Orion]}
Estorals
Estradiol, Ethinyl
Estradiol, Ethynyl
Estring
Estrogen
Ethidol
Ethinoral
Ethinyl E2
Ethinyl Estradiol Hemihydrate
Ethinyl Estradiol [USP]
 
Ethinyl Estradiol, (8 alpha)-Isomer
Ethinyl Oestradiol Effik
Ethinyl estradiol
Ethinyl estradiol (USP)
Ethinyl-Oestradiol Effik
Ethinyl-Oestranol
Ethinyl-oestranol
Ethinylestradiol
Ethinylestradiol (JP15/INN)
Ethinylestradiol Jenapharm
Ethinylestradiol [INN:BAN:JAN]
Ethinylestradiolum
Ethinylestradiolum [INN-Latin]
Ethinylestriol
Ethinyloestradiol
Ethinyloestradiol [Steroidal oestrogens]
Ethy 11
Ethynyl estradiol
Ethynylestradiol
Ethynylestradiol, Ethinyl Estradiol
Ethynyloestradiol
Eticyclin
Eticyclol
Eticylol
Etinestrol
Etinestryl
Etinilestradiol
Etinilestradiol [INN-Spanish]
Etinilestradiolo
Etinilestradiolo [DCIT]
Etinoestryl
Etistradiol
Etivex
Evra
Feminone
Fempatch
Follicoral
Ginestrene
Gynodiol
Gynolett
HMS2051I19
HSDB 3587
Halodrin
Hemihydrate, Ethinyl Estradiol
Inestra
Innofem
Jenapharm Brand of Ethinyl Estradiol
Jenapharm, Ethinylestradiol
Kolpolyn
LMST02010036
LS-231
Linoral
Lynoral
MLS000028479
MLS000758274
Marvelon
Menolyn
Menostar
Mercilon
Microfollin
Microfollin Forte
MolPort-001-794-636
NCGC00091533-01
NCGC00091533-04
NCGC00091533-05
NCI60_000234
NSC-10973
NSC10973
Neo-Estrone
Nogest-S
Novestrol
OVULEN-21
OVULEN-28
Oradiol
Orestralyn
Orestrayln
Organon Brand of Ethinyl Estradiol
Ortho-Cyclen
Ovex
Oviol
PUBERTAL ETHINYL ESTRADIOL STUDY
Palonyl
Perovex
Primogyn
Primogyn C
Primogyn M
Progynon C
Progynon M
Prosexol
S1625_Selleck
SAM001247008
SGCUT00127
SMR000058319
Schering Brand of Ethinyl Estradiol
Spanestrin
Thiuram E
Thiuranide
UNII-423D2T571U
Vagifem
Varnoline
WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
Ylestrol
component of Demulen
component of Oracon
component of Ortrel
ethinyl estradiol
ethynyl estradiol
to_000048
10Polyestradiol phosphate1095
11Estradiol valerate1094979-32-8
12Estradiol 17 beta-cypionate1094
13Contraceptives, Oral, Combined566
14Estradiol 3-benzoate1094

Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of Desogestrel in Ondine SyndromeCompletedNCT01243697Phase 2, Phase 3
2Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B GeneCompletedNCT01225679
3PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to AdulthoodRecruitingNCT00652964
4European Home Mechanical Ventilation RegistryRecruitingNCT02315339
5Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation SyndromeNot yet recruitingNCT01500473

Search NIH Clinical Center for Central Hypoventilation Syndrome, Congenital

Genetic Tests for Central Hypoventilation Syndrome, Congenital

About this section

Genetic tests related to Central Hypoventilation Syndrome, Congenital:

id Genetic test Affiliating Genes
1 Congenital Central Hypoventilation Syndrome22 PHOX2B, BDNF, ASCL1, EDN3, GDNF, RET

Anatomical Context for Central Hypoventilation Syndrome, Congenital

About this section

MalaCards organs/tissues related to Central Hypoventilation Syndrome, Congenital:

33
Lung, Brain, Skin, Eye, Heart, T cells, Thyroid

Animal Models for Central Hypoventilation Syndrome, Congenital or affiliated genes

About this section

MGI Mouse Phenotypes related to Central Hypoventilation Syndrome, Congenital:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.3ASCL1, BDNF, PHOX2B, RET, TH
2MP:00053918.1ASCL1, BDNF, EDNRB, PHOX2B, TH
3MP:00107718.1ASCL1, BDNF, EDN3, EDNRB, TH
4MP:00053818.1BDNF, EDN3, EDNRB, GDNF, RET
5MP:00053887.7ASCL1, BDNF, EDNRB, PHOX2B, RET, TH
6MP:00053797.6ASCL1, BDNF, EDNRB, GDNF, RET, TH
7MP:00053846.9ASCL1, BDNF, EDNRB, GDNF, PHOX2B, RET
8MP:00053786.9ASCL1, BDNF, EDNRB, GDNF, PHOX2B, RET
9MP:00053866.6ASCL1, BDNF, EDN3, EDNRB, GDNF, PHOX2B
10MP:00036316.5ASCL1, BDNF, EDN3, EDNRB, GDNF, PHOX2B
11MP:00107686.1ASCL1, BDNF, EDN3, EDNRB, GDNF, PHOX2B

Publications for Central Hypoventilation Syndrome, Congenital

About this section

Variations for Central Hypoventilation Syndrome, Congenital

About this section

UniProtKB/Swiss-Prot genetic disease variations for Central Hypoventilation Syndrome, Congenital:

67
id Symbol AA change Variation ID SNP ID
1BDNFp.Thr2IleVAR_018260rs8192466
2PHOX2Bp.Arg141GlnVAR_046900
3PHOX2Bp.Gln143ArgVAR_046901
4RETp.Arg67HisVAR_018153rs192489011
5RETp.Arg114HisVAR_018154
6RETp.Ala432GluVAR_018155
7RETp.Pro1039LeuVAR_018157rs79853121

Clinvar genetic disease variations for Central Hypoventilation Syndrome, Congenital:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EDN3EDN3, 1-BP INSinsertionPathogenic
2NM_170731.4(BDNF): c.29C> T (p.Thr10Ile)single nucleotide variantPathogenicrs8192466GRCh37Chr 11, 27680107: 27680107
3ASCL1NM_004316.3(ASCL1): c.52C> A (p.Pro18Thr)single nucleotide variantPathogenicrs267606667GRCh37Chr 12, 103352074: 103352074
4ASCL1ASCL1, 15-BP DEL, NT111deletionPathogenic
5ASCL1ASCL1, 24-BP DEL, NT108deletionPathogenic
6PHOX2BNP_003915.2: p.Ala260(5_9)NT expansionPathogenic
7PHOX2BNM_003924.3(PHOX2B): c.618dupC (p.Ser207Glnfs)duplicationPathogenicrs587776626GRCh37Chr 4, 41748151: 41748151
8PHOX2BPHOX2B, 37-BP DEL, NT722deletionPathogenic
9GDNFNM_000514.3(GDNF): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112

Expression for genes affiliated with Central Hypoventilation Syndrome, Congenital

About this section
Search GEO for disease gene expression data for Central Hypoventilation Syndrome, Congenital.

Pathways for genes affiliated with Central Hypoventilation Syndrome, Congenital

About this section

GO Terms for genes affiliated with Central Hypoventilation Syndrome, Congenital

About this section

Biological processes related to Central Hypoventilation Syndrome, Congenital according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1noradrenergic neuron developmentGO:000335810.3ASCL1, PHOX2B
2sympathetic ganglion developmentGO:006154910.2ASCL1, PHOX2B
3enteric nervous system developmentGO:004848410.2EDNRB, PHOX2B
4posterior midgut developmentGO:000749710.2EDNRB, RET
5vein smooth muscle contractionGO:001482610.2EDN3, EDNRB
6vasoconstrictionGO:004231010.0EDN3, EDNRB
7positive regulation of neuron differentiationGO:004566610.0ASCL1, PHOX2B
8peripheral nervous system developmentGO:00074229.9EDNRB, GDNF
9negative regulation of neuron differentiationGO:00456659.8ASCL1, PHOX2B
10neuron migrationGO:00017649.7ASCL1, PHOX2B
11positive regulation of cell differentiationGO:00455979.6EDN3, GDNF
12pigmentationGO:00434739.4EDNRB, TH
13neural crest cell migrationGO:00017559.4EDN3, EDNRB, RET
14neuron differentiationGO:00301829.1ASCL1, EDN3, PHOX2B, RET
15nervous system developmentGO:00073998.4ASCL1, BDNF, EDNRB, GDNF

Sources for Central Hypoventilation Syndrome, Congenital

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet