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	congenital bilateral absence of vas deferens

Disease ID	1108
Disease	congenital bilateral absence of vas deferens
Definition	An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.
Synonym	cavd cbavd congenital bilateral absence of the vas deferens congenital bilateral aplasia of the vas deferens congenital bilateral aplasia of vas deferens congenital bilateral aplasia of vas deferens (disorder) vas deferens, congenital bilateral aplasia of
Orphanet	ORPHANET:48
OMIM	OMIM:277180
UMLS	C0403814
SNOMED-CT	SNOMEDCT_US_2016_09_01:275416002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0021359 \| infertile \| 5 C0010674 \| cystic fibrosis \| 3 C0021359 \| infertility \| 2 C0004509 \| azoospermia \| 2 C0021364 \| male infertility \| 1 C0035078 \| renal failure \| 1 C0020538 \| hypertension \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1080 \| CFTR \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1080 \| CFTR \| CIPHER;CTD_human
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) ADGRG2 \| Xp22.13 CFTR \| 7q31.2

Disease ID	1108
Disease	congenital bilateral absence of vas deferens
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0000798 \| Oligospermia HP:0000027 \| Azoospermia HP:0012873 \| Absent vas deferens HP:0003251 \| Male infertility HP:0011962 \| Obstructive azoospermia HP:0012210 \| Abnormal renal morphology
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0000027 \| Azoospermia \| 3 HP:0000789 \| Infertility \| 2 HP:0011962 \| Obstructive azoospermia \| 2 HP:0004713 \| Reversible renal failure \| 1 HP:0000822 \| Hypertension \| 1 HP:0003077 \| Hyperlipidemia \| 1 HP:0003251 \| Male infertility \| 1 HP:0012873 \| Absent deferent duct \| 1 HP:0000083 \| Renal insufficiency \| 1

Disease ID	1108
Disease	congenital bilateral absence of vas deferens
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113857788	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117664780	G	C,T
rs115545701	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117509089	C	T
rs115545701	10386624	1080	CFTR	umls:C0403814	BeFree	We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.	0.509163832	1999	CFTR	7	117509089	C	T
rs11971167	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117642528	G	A,T
rs11971167	10386624	1080	CFTR	umls:C0403814	BeFree	We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.	0.509163832	1999	CFTR	7	117642528	G	A,T
rs1800098	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117590400	G	C,T
rs1800103	NA	1080	CFTR	umls:C0403814	UNIPROT	NA	0.509163832	NA	CFTR	7	117592588	A	G
rs191456345	7529962	1080	CFTR	umls:C0403814	UNIPROT	Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.	0.509163832	1995	CFTR	7	117536576	A	G
rs193922511	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117603687	T	G
rs202179988	NA	1080	CFTR	umls:C0403814	UNIPROT	NA	0.509163832	NA	CFTR	7	117611649	C	T
rs213950	9678705	1080	CFTR	umls:C0403814	BeFree	To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population.	0.509163832	1998	CFTR	7	117559479	G	A
rs213950	22842702	1080	CFTR	umls:C0403814	BeFree	The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.	0.509163832	2012	CFTR	7	117559479	G	A
rs386434940	10386624	1080	CFTR	umls:C0403814	BeFree	We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.	0.509163832	1999	NA	NA	NA	NA	NA
rs397508203	22842702	1080	CFTR	umls:C0403814	BeFree	The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.	0.509163832	2012	CFTR	7	117559476	A	G
rs397508203	9678705	1080	CFTR	umls:C0403814	BeFree	To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population.	0.509163832	1998	CFTR	7	117559476	A	G
rs397508392	18703181	1080	CFTR	umls:C0403814	BeFree	This case report documents for the first time a male phenotype associated with the p.P841R mutation and underlines the difficulties in counseling a man with congenital bilateral absence of the vas deferens carrying uncommon mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene before ICSI.	0.509163832	2008	CFTR	7	117594961	C	G
rs397508521	15357566	1080	CFTR	umls:C0403814	BeFree	A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.	0.509163832	2004	CFTR	7	117611682	G	C
rs397508619	15705389	1080	CFTR	umls:C0403814	BeFree	A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.	0.509163832	2005	CFTR	7	117642588	C	A,T
rs727504486	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117548634	TT	-
rs73715573	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117548630	T	G
rs74571530	19092444	1080	CFTR	umls:C0403814	BeFree	We conclude that the F508C variant in cystic fibrosis transmembrane conductance regulator may represent a pathogenic defect and lead to congenital bilateral absence of the vas deferens when combined with a second cystic fibrosis transmembrane conductance regulator mutation.	0.509163832	2008	CFTR	7	117559594	T	C,G
rs74571530	19092444	1080	CFTR	umls:C0403814	GAD	[We conclude that the F508C variant in cystic fibrosis transmembrane conductance regulator may represent a pathogenic defect and lead to congenital bilateral absence of the vas deferens when combined with a second cystic fibrosis transmembrane conductance regulator mutation.]	0.509163832	2008	CFTR	7	117559594	T	C,G
rs75541969	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117614699	G	C
rs78655421	23378603	1080	CFTR	umls:C0403814	BeFree	The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.	0.509163832	2013	CFTR	7	117530975	G	A,C,T
rs78655421	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117530975	G	A,C,T
rs78769542	NA	1080	CFTR	umls:C0403814	CLINVAR	NA	0.509163832	NA	CFTR	7	117611650	G	A,C

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

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

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012873	Absent vas deferens	MP:0003557	absent vas deferens	absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct
HP:0012210	Abnormal renal morphology	MP:0004505	decreased renal glomerulus number	reduced number of the capillary loops of the kidney that normally function as a filtration unit
HP:0003251	Male infertility	MP:0001924	infertility	inability to produce live offspring

Mapped by homologous gene(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012873	Absent vas deferens	MP:0013604	abnormal adult Leydig cell differentiation	atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr
HP:0003251	Male infertility	MP:0014233	bile duct epithelium hyperplasia
HP:0012210	Abnormal renal morphology	MP:0014152	absent exorbital lacrimal gland	absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland
HP:0000798	Oligospermia	MP:0013505	decreased embryonic tissue cell apoptosis	decrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0000027	Azoospermia	MP:0014233	bile duct epithelium hyperplasia

Disease ID	1108
Disease	congenital bilateral absence of vas deferens
Case	(Waiting for update.)