PedAM

Pediatric Disease Annotations & Medicines


	congenital central hypoventilation syndrome

Disease ID	1505
Disease	congenital central hypoventilation syndrome
Definition	A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities.
Synonym	autonomic control, congenital failure of cchs cchs - congenital central hypoventilation cchs - congenital central hypoventilation (finding) central hypoventilation syndrome, congenital congenital central hypoventilation congenital central hypoventilation (disorder) congenital failure of autonomic control congenital ondine curse congenital pulmonary hypoventilation idiopathic congenital central alveolar hypoventilation ondine curse, congenital
OMIM	OMIM:209880
UMLS	C1275808
SNOMED-CT	SNOMEDCT_US_2016_09_01:399040002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0019569 \| hirschsprung's disease \| 2 C0027819 \| neuroblastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) RET \| 5979 \| CTD_human;UNIPROT EDN3 \| 1908 \| CTD_human;ORPHANET PHOX2B \| 8929 \| CTD_human;ORPHANET;UNIPROT GDNF \| 2668 \| CTD_human;ORPHANET BDNF \| 627 \| CTD_human;UNIPROT ASCL1 \| 429 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8929 \| PHOX2B \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 8929 \| PHOX2B \| DISEASES 120237 \| DBX1 \| DISEASES 116519 \| APOA5 \| DISEASES 3196 \| TLX2 \| DISEASES 3336 \| HSPE1 \| DISEASES 1959 \| EGR2 \| DISEASES 583 \| BBS2 \| DISEASES 7166 \| TPH1 \| DISEASES 57084 \| SLC17A6 \| DISEASES 429 \| ASCL1 \| DISEASES 81559 \| TRIM11 \| DISEASES 3060 \| HCRT \| DISEASES 2019 \| EN1 \| DISEASES 6059 \| ABCE1 \| DISEASES 30012 \| TLX3 \| DISEASES 401 \| PHOX2A \| DISEASES 51305 \| KCNK9 \| DISEASES 474 \| ATOH1 \| DISEASES 9839 \| ZEB2 \| DISEASES 3777 \| KCNK3 \| DISEASES 3241 \| HPCAL1 \| DISEASES 2828 \| GPR4 \| DISEASES 6863 \| TAC1 \| DISEASES 7156 \| TOP3A \| DISEASES 1915 \| EEF1A1 \| DISEASES 1908 \| EDN3 \| DISEASES 7753 \| ZNF202 \| DISEASES 11188 \| NISCH \| DISEASES 5979 \| RET \| DISEASES 8645 \| KCNK5 \| DISEASES 6663 \| SOX10 \| DISEASES 3897 \| L1CAM \| DISEASES 10660 \| LBX1 \| DISEASES 3195 \| TLX1 \| DISEASES 54558 \| SPATA6 \| DISEASES 5090 \| PBX3 \| DISEASES 1889 \| ECE1 \| DISEASES 177 \| AGER \| DISEASES 1910 \| EDNRB \| DISEASES 7054 \| TH \| DISEASES 1621 \| DBH \| DISEASES 654364 \| NME1-NME2 \| DISEASES 64221 \| ROBO3 \| DISEASES 2674 \| GFRA1 \| DISEASES 4204 \| MECP2 \| DISEASES 2668 \| GDNF \| DISEASES 4140 \| MARK3 \| DISEASES 627 \| BDNF \| DISEASES 2128 \| EVX1 \| DISEASES 103752588 \| PACERR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1505
Disease	congenital central hypoventilation syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0003006 \| Neuroblastoma \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0002871 \| Central apnea \| 1

Disease ID	1505
Disease	congenital central hypoventilation syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893855	23873030	8929	PHOX2B	umls:C1275808	BeFree	We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm.	0.467263739	2013	PHOX2B	4	41747479	C	A
rs104893855	23873030	3241	HPCAL1	umls:C1275808	BeFree	We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm.	0.000271442	2013	PHOX2B	4	41747479	C	A
rs17884724	19881470	8929	PHOX2B	umls:C1275808	BeFree	Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.	0.467263739	2010	PHOX2B	4	41745990	T	G
rs192489011	14566559	5979	RET	umls:C1275808	UNIPROT	Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CCHS.	0.241085767	2003	RET	10	43100585	G	A
rs79853121	9497256	5979	RET	umls:C1275808	UNIPROT	Mutations of the RET-GDNF signaling pathway in Ondine's curse.	0.241085767	1998	RET	10	43126651	C	A,T
rs8192466	11840487	627	BDNF	umls:C1275808	UNIPROT	Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.	0.240542884	2002	BDNF;BDNF-AS	11	27658560	G	T,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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