Central Hypoventilation Syndrome malady

Wikipedia: Ondine\'s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar...⁴⁴ more...

MalaCards: Central Hypoventilation Syndrome, also known as hypoventilation syndrome, is related to congenital central hypoventilation syndrome and haddad syndrome. An important gene associated with Central Hypoventilation Syndrome is ASCL1 (achaete-scute complex homolog 1 (Drosophila)), and among its related pathways are G alpha (q) signalling events and G-protein signaling H-RAS regulation pathway. The compounds bq 788 sodium salt and pd 142893 have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and fetal brain, and related mouse phenotypes are pigmentation and no phenotypic analysis.

OMIM: 209880

central hypoventilation syndrome 7 33 hypoventilation syndrome 43

Diseases related to central hypoventilation syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 85)

id	Related Disease	Score	Top Affiliating Genes
1	congenital central hypoventilation syndrome	31.3	EN1, PHOX2A, PHOX2B, EDN3, EDNRB, GFRA1
2	haddad syndrome	29.8	ASCL1, PHOX2B, TH
3	hirschsprung's disease	28.8	GDNF, GFRA1, EDNRB, EDN3, PHOX2B, GRP
4	cerebritis	27.6	GDNF, TH, EDNRB, EDN3, PHOX2B, ASCL1
5	sudden infant death syndrome	26.4	TH, TLX3, PHOX2B, PHOX2A, EN1, GRP
6	neuronitis	22.7	GDNF, TH, TLX3, TLX1, GFRA1, EDNRB
7	waardenburg syndrome type 4	13.4	EDN3, EDNRB
8	waardenburg syndrome type 2	13.3	EDN3, EDNRB
9	exotropia	13.2	PHOX2B, PHOX2A
10	megacolon	13.2	EDN3, EDNRB
11	shah-waardenburg syndrome	13.1	EDNRB, EDN3, RET
12	colonic aganglionosis	13.1	EDNRB, EDN3, RET
13	medullary sponge kidney	13.1	GDNF, RET
14	intestinal pseudo-obstruction	13.1	EDNRB, EDN3, RET
15	waardenburg's syndrome	13.1	RET, EDN3, EDNRB
16	sydenham's chorea	13.1	BDNF, TH
17	familial medullary thyroid carcinoma	13.1	GDNF, RET
18	cervical dystonia	13.0	TH, BDNF
19	sacrococcygeal teratoma	13.0	GDNF, RET
20	developmental disabilities	13.0	RET, BDNF, EDNRB
21	dry eye syndrome	12.8	BDNF, GDNF
22	intestinal obstruction	12.6	GDNF, EDNRB, EDN3, RET
23	differentiating neuroblastoma	12.6	TH, ASCL1, BDNF, RET
24	neuroepithelioma	12.6	EDN3, GRP, RET
25	multiple endocrine neoplasia type 2a	12.5	GDNF, GFRA1, RET
26	mood disorder	12.5	BDNF, TH, GDNF
27	rett syndrome	12.5	BDNF, TH, GDNF
28	tourette syndrome	12.5	BDNF, TH, GDNF
29	renal agenesis	12.5	RET, GFRA1, GDNF
30	prion disease	12.5	BDNF, TH, GDNF
31	huntington's disease	12.5	GDNF, TH, BDNF
32	multiple system atrophy	12.4	BDNF, TH, GDNF
33	toxic encephalopathy	12.4	BDNF, TH, GDNF
34	teratoma	12.4	GDNF, GFRA1, RET
35	glaucoma	12.3	RET, BDNF, EDNRB, GDNF
36	achalasia	12.3	GDNF, GRP, RET
37	pediatric cns embryonal cell carcinoma	12.3	GDNF, TH, EDNRB, ASCL1
38	peripheral primitive neuroectodermal tumor	12.2	TH, EDNRB, GRP
39	attention deficit hyperactivity disorder	12.2	GDNF, TH, BDNF
40	motor neuron disease	12.2	RET, BDNF, GFRA1, GDNF
41	cerebral primitive neuroectodermal tumor	12.2	ASCL1, GRP, TH
42	thyroid medullary carcinoma	12.2	GFRA1, GRP, RET
43	pulmonary neuroendocrine tumor	12.1	GRP, ASCL1
44	carcinoid syndrome	12.1	TH, GRP, ASCL1, RET
45	hearing loss	12.1	GDNF, TH, EDNRB, BDNF
46	carcinoid tumors	12.1	TH, GRP, ASCL1, RET
47	wilms tumor	12.0	GDNF, TH, EDN3, BDNF, RET
48	small-cell cancer of lung	12.0	GDNF, EDNRB, GRP, ASCL1
49	bartter disease	12.0	EDNRB, EDN3, GRP, RET
50	multiple endocrine neoplasia	12.0	RET, GFRA1, TH, GDNF

Clinical features from OMIM: 209880

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to central hypoventilation syndrome:

²²

MGI Mouse Phenotypes related to central hypoventilation syndrome:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.2	EDNRB, EDN3, EN1, ASCL1
2	no phenotypic analysis	MP:0003012	9.0	EDNRB, PHOX2A, ASCL1, BDNF, RET
3	respiratory system phenotype	MP:0005388	8.1	TH, TLX3, EDNRB, PHOX2B, PHOX2A, ASCL1
4	embryogenesis phenotype	MP:0005380	7.9	GFRA1, EDNRB, EDN3, EN1, RET, TLX1
5	normal phenotype	MP:0002873	7.7	TH, GFRA1, PHOX2B, EN1, ASCL1, BDNF
6	digestive/alimentary phenotype	MP:0005381	7.7	GDNF, TLX3, GFRA1, EDNRB, EDN3, BDNF
7	integument phenotype	MP:0010771	7.4	TH, TLX3, GFRA1, EDNRB, EDN3, EN1
8	homeostasis/metabolism phenotype	MP:0005376	7.4	TH, TLX3, EDNRB, PHOX2B, PHOX2A, EN1
9	growth/size phenotype	MP:0005378	7.3	GDNF, TH, EDNRB, PHOX2B, PHOX2A, EN1
10	cellular phenotype	MP:0005384	7.2	TLX1, GFRA1, EDNRB, PHOX2B, PHOX2A, EN1
11	mortality/aging	MP:0010768	7.0	EDNRB, TLX3, TH, GDNF, EDN3, PHOX2B
12	behavior/neurological phenotype	MP:0005386	6.5	GDNF, TH, TLX3, GFRA1, EDNRB, PHOX2B
13	nervous system phenotype	MP:0003631	5.5	RET, GDNF, TH, TLX3, TLX1, GFRA1

Articles related to central hypoventilation syndrome:

(show all 44)

id	Title	Authors	Year	Affiliating Genes
1	Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expan sion. (19881470)	Arai H.... Hayasaka K.	2010	PHOX2B
2	Congenital central hypoventilation syndrome and the P HOX2B gene: a model of respiratory and autonomic dysregulation. (20601214)	Patwari P.P.... Weese-Mayer D.E.	2010	PHOX2B
3	Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. (21051998)	Jennings L.J.... Weese-Mayer D.E.	2010	PHOX2B
4	Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. (19953265)	van Delft E.... Bambang Oetomo S.	2010	PHOX2B
5	A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation. (19813116)	Trobliger R.... Higgins J.J.	2010	PHOX2B
6	An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. (20208042)	Weese-Mayer D.E.... Trang H.	2010	PHOX2B
7	PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. (19201717)	Lee P.... Wu H.D.	2009	PHOX2B
8	Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (19422034)	Weese-Mayer D.E.... Ceccherini I.	2009	PHOX2B
9	Congenital Central Hypoventilation Syndrome due to PH OX2b gene defects: inheritance from asymptomatic parents. (19707990)	Hammel M.... Holzinger A.	2009	PHOX2B
10	Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics. (19784002)	Rajendran G.P.... Manning F.A.	2009	PHOX2B
11	Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. (18798833)	Repetto G.M.... Weese-Mayer D.E.	2009	PHOX2B
12	PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (18079495)	Trochet D.... Amiel J.	2008	PHOX2B
13	A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. (18785257)	Parodi S.... Ottonello G.	2008	PHOX2B
14	Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). (18407552)	Trochet D.... Amiel J.	2008	PHOX2B
15	Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. (18041756)	Gronli J.O.... Weese-Mayer D.E.	2008	PHOX2B
16	Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. (18157832)	Parodi S.... Ceccherini I.	2008	PHOX2B
17	Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. (18438890)	Fitze G.... Schackert H.K.	2008	RET, PHOX2B
18	Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. (18340402)	Hennewig U.... Hoehn T.	2008	PHOX2B
19	Congenital central hypoventilation syndrome. (17978458)	Samdani P.G.... Goel A.	2007	PHOX2B
20	Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (17282973)	Chen L.R.... Hsieh W.S.	2007	PHOX2B
21	Late-onset central hypoventilation syndrome: a family genetic study. (17264323)	Doherty L.S.... McNicholas W.T.	2007	PHOX2B
22	Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (17270534)	Ou-Yang M.C.... Liu C.A.	2007	PHOX2B
23	Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. (17541758)	Diedrich A.... Weese-Mayer D.E.	2007	PHOX2B
24	PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. (16873766)	Antic N.A.... Weese-Mayer D.E.	2006	PHOX2B
25	Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. (16763219)	Bachetti T.... Ottonello G.	2006	PHOX2B
26	Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. (16888290)	Berry-Kravis E.M.... Weese-Mayer D.E.	2006	PHOX2B
27	Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. (16882781)	Todd E.S.... Marazita M.L.	2006	PHOX2B
28	Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (15930201)	Bajaj R.... Kluckow M.	2005	PHOX2B
29	PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (15657873)	Trochet D.... Amiel J.	2005	PHOX2B
30	Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. (15888479)	Bachetti T.... Ceccherini I.	2005	PHOX2A
31	The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. (15653965)	Trang H.... Gaultier C.	2005	PHOX2B
32	Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (15185974)	Kijima K.... Hayasaka K.	2004	PHOX2B
33	Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. (15150159)	Cross S.H.... Jackson I.J.	2004	PHOX2B
34	Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (12640453)	Amiel J.... Lyonnet S.	2003	RET, PHOX2B
35	Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. (12566528)	Fitze G.... Schackert H.K.	2003	RET
36	Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (14608649)	Weese-Mayer D.E.... Marazita M.L.	2003	ASCL1, PHOX2B, EN1
37	Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). (14532329)	de Pontual L.... Amiel J.	2003	ASCL1
38	Molecular analysis of congenital central hypoventilation syndrome. (14566559)	Sasaki A.... Hayasaka K.	2003	RET, BDNF, ASCL1
39	Mutational analysis of the RNX gene in congenital central hypoventilation syndrome. (12407709)	Matera I.... Ceccherini I.	2002	TLX1, TLX3
40	Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. (12086152)	Kanai M.... Hayasaka K.	2002	RET
41	Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. (11840487)	Weese-Mayer D.E.... Chakravarti A.	2002	BDNF
42	Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. (11719874)	Sakai T.... Nirasawa Y.	2001	RET, EDNRB
43	Peripheral chemoreceptors in congenital central hypoventilation syndrome. (9001336)	Cutz E.... Becker L.E.	1997	GRP
44	Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (8696331)	Bolk S.... Chakravarti A.	1996	EDN3

Genes related to central hypoventilation syndrome according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	ASCL1	achaete-scute complex homolog 1 (Drosophila)	11.1	Publications, Summaries
2	PHOX2B	paired-like homeobox 2b	11.1	Publications
3	EDN3	endothelin 3	11.1	Publications
4	RET	ret proto-oncogene	11.1	Publications
5	EDNRB	endothelin receptor type B	11.0	Publications
6	BDNF	brain-derived neurotrophic factor	11.0	Publications
7	PHOX2A	paired-like homeobox 2a	11.0	Publications
8	TLX3	T-cell leukemia homeobox 3	11.0	Publications
9	EN1	engrailed homeobox 1	11.0	Publications
10	TLX1	T-cell leukemia homeobox 1	11.0	Publications
11	GRP	gastrin-releasing peptide	11.0	Publications
12	GDNF	glial cell derived neurotrophic factor	11.0
13	GFRA1	GDNF family receptor alpha 1	11.0	Publications
14	TH	tyrosine hydroxylase	11.0

Pathways related to central hypoventilation syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	G alpha (q) signalling events38	9.4	GRP, EDN3, EDNRB
2	G-protein signaling H-RAS regulation pathway10	8.8	RET, GFRA1, GDNF
3	G-protein signaling_H-RAS regulation pathway41	8.8	RET, GFRA1, GDNF
4	Development_GDNF family signaling41	8.6	GDNF, GFRA1, RET
5	Development GDNF family signaling10	8.4	GDNF, GFRA1, RET

Compounds related to central hypoventilation syndrome according to GeneDecks:

(show top 50)    (show all 71)

id	Compound	Score	Top Affiliating Genes
1	bq 788 sodium salt42	10.3	EDNRB, EDN3
2	pd 14289332	10.3	EDNRB, EDN3
3	bq61032	10.3	EDNRB, EDN3
4	bq 302032	10.3	EDNRB, EDN3
5	tezosentan32	10.3	EDNRB, EDN3
6	irl 162032	10.3	EDNRB, EDN3
7	fr13931732	10.2	EDNRB, EDN3
8	sarafotoxin32	10.2	EDNRB, EDN3
9	bq78832	10.2	EDN3, EDNRB
10	carbachol32 9 9	12.1	GRP, EDN3
11	bq12332	10.1	EDNRB, EDN3
12	bosentan32 9 9	11.9	EDN3, EDNRB
13	3-nitropropionic acid32	9.8	TH, BDNF
14	phosphoramidon32 9 9	11.8	EDNRB, EDN3, GRP
15	propargylamine32	9.8	BDNF, GDNF
16	riluzole32 9 9	11.7	GDNF, BDNF
17	dopac32	9.4	BDNF, TH, GDNF
18	1 methyl 4 phenylpyridinium32	9.4	BDNF, TH, GDNF
19	selegiline32 9 9	11.4	GDNF, TH, BDNF
20	phenylalanine32	9.4	TH, ASCL1, BDNF, RET
21	dbc-amp32	9.4	BDNF, EDN3, GDNF
22	6-hydroxydopamine32	9.4	GDNF, TH, BDNF
23	mptp32	9.3	BDNF, TH, GDNF
24	indomethacin32 9 9	11.3	EDNRB, EDN3, GRP, BDNF
25	tetrodotoxin32	9.3	TH, EDN3, GRP, BDNF
26	capsaicin32	9.3	GDNF, GRP, BDNF
27	melatonin32 42 9 18 9	13.2	GDNF, EDNRB, BDNF
28	thapsigargin32 42	10.2	TH, EDN3, GRP, BDNF
29	levodopa32 9 9	11.2	BDNF, EDN3, TH, GDNF
30	gnrh32	9.1	TH, EDN3, GRP, BDNF
31	catecholamine32	9.1	GDNF, TH, BDNF, RET
32	amphetamine32 9 9	11.1	GDNF, TH, GRP
33	cocaine32 9 9	10.9	BDNF, GRP, TH, GDNF
34	aspartate32	8.9	GDNF, TH, EDN3, BDNF, RET
35	gaba32 42	9.8	BDNF, GRP, TH, GDNF
36	choline32 9 18 9	11.6	GDNF, TH, GRP, BDNF, RET
37	testosterone32 9 18 9	11.6	TH, EDN3, GRP, BDNF, RET
38	phosphatidylinositol32	8.6	GDNF, EDNRB, EDN3, GRP, BDNF, RET
39	histamine32 18	9.5	TH, EDN3, GRP, BDNF
40	nmda32 42	9.4	BDNF, GRP, TH, GDNF
41	acetylcholine32 9 18 9	11.4	GDNF, TH, EDNRB, EDN3, GRP, BDNF
42	adenylate32	8.3	GDNF, TH, EDNRB, EDN3, GRP, BDNF
43	glutamate32	8.3	GDNF, TH, EDNRB, EDN3, GRP, BDNF
44	alanine32	8.1	GDNF, TH, EDNRB, EDN3, PHOX2B, GRP
45	cyclic amp32 18	9.1	GDNF, TH, EDN3, PHOX2B, GRP, BDNF
46	vegf32	8.1	GDNF, TH, EDNRB, EDN3, GRP, BDNF
47	retinoic acid32 42 18	10.1	GDNF, TH, EDNRB, GRP, ASCL1, BDNF
48	norepinephrine32 9 18 9	10.8	GDNF, TH, EDNRB, EDN3, PHOX2B, PHOX2A
49	dopamine32 9 18 9	9.7	RET, GDNF, TH, GFRA1, EDN3, PHOX2B
50	tyrosine32	6.0	EDNRB, GFRA1, TLX1, TH, GDNF, EDN3

Biological processes related to central hypoventilation syndrome according to GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	posterior midgut development	GO:007497	10.1	RET, EDNRB
2	vein smooth muscle contraction	GO:014826	10.1	EDNRB, EDN3
3	parasympathetic nervous system development	GO:048486	10.1	PHOX2A, PHOX2B
4	noradrenergic neuron differentiation	GO:003357	10.1	PHOX2A, PHOX2B
5	neuron fate specification	GO:048665	10.0	ASCL1, TLX3
6	dopaminergic neuron differentiation	GO:071542	10.0	PHOX2B, PHOX2A
7	vasoconstriction	GO:042310	10.0	EDNRB, EDN3
8	regulation of respiratory gaseous exchange by neurological system process	GO:002087	9.9	TLX3, PHOX2B
9	melanocyte differentiation	GO:030318	9.8	EDN3, EDNRB
10	neuron migration	GO:001764	9.7	ASCL1, PHOX2B, TLX3
11	enteric nervous system development	GO:048484	9.3	RET, PHOX2B, EDNRB, GDNF
12	sympathetic nervous system development	GO:048485	9.3	GDNF, PHOX2B, PHOX2A, ASCL1
13	neural crest cell migration	GO:001755	9.3	GDNF, EDNRB, EDN3, RET
14	pigmentation	GO:043473	9.2	EN1, TH
15	cell surface receptor signaling pathway	GO:007166	9.1	EDN3, EDNRB, GFRA1
16	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.4	GDNF, TLX1, PHOX2B, PHOX2A, EN1, ASCL1

Molecular functions related to central hypoventilation syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II regulatory region sequence-specific DNA binding	GO:000977	9.9	PHOX2A, PHOX2B
2	sequence-specific DNA binding transcription factor activity	GO:003700	8.3	ASCL1, EN1, PHOX2A, PHOX2B, TLX1, TLX3
3	receptor binding	GO:005102	7.9	GDNF, GFRA1, EDN3, GRP