CBAVD
MCID: VSD002
MIFTS: 36

Vas Deferens, Congenital Bilateral Aplasia of (CBAVD)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of

MalaCards integrated aliases for Vas Deferens, Congenital Bilateral Aplasia of:

Name: Vas Deferens, Congenital Bilateral Aplasia of 58 77
Congenital Bilateral Absence of the Vas Deferens 54 26 76 30 6
Congenital Bilateral Absence of Vas Deferens 58 26 60 38 13
Cbavd 58 54 26 76 56
Cavd 58 54 26
Congenital Bilateral Aplasia of Vas Deferens 54 60
Congenital Bilateral Agenesis of Vas Deferens 60
Vas Deferens, Congenital Bilateral Absence 41
Congenital Absence of Vas Deferens 26
Congenital Aplasia of Vas Deferens 26
Absence of Vas Deferens 26
Absent Vas Deferens 6
Absent Vasa 26

Characteristics:

Orphanet epidemiological data:

60
congenital bilateral absence of vas deferens
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

33
vas deferens, congenital bilateral aplasia of:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 277180
KEGG 38 H01033
MESH via Orphanet 46 C535984
ICD10 via Orphanet 35 Q55.4
UMLS via Orphanet 75 C0403814
Orphanet 60 ORPHA48

Summaries for Vas Deferens, Congenital Bilateral Aplasia of

NIH Rare Diseases : 54 Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, also known as congenital bilateral absence of the vas deferens, is related to vas deferens, congenital bilateral aplasia of, x-linked and cystic fibrosis. An important gene associated with Vas Deferens, Congenital Bilateral Aplasia of is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways is ABC transporters. Affiliated tissues include testes and kidney, and related phenotypes are male infertility and obstructive azoospermia

Genetics Home Reference : 26 Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.

OMIM : 58 Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by Patat et al., 2016). (277180)

UniProtKB/Swiss-Prot : 76 Congenital bilateral absence of the vas deferens: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.

Wikipedia : 77 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive... more...

Related Diseases for Vas Deferens, Congenital Bilateral Aplasia of

Diseases related to Vas Deferens, Congenital Bilateral Aplasia of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 vas deferens, congenital bilateral aplasia of, x-linked 33.3 ADGRG2 LOC101928415
2 cystic fibrosis 10.6
3 azoospermia 10.5
4 hypogonadotropic hypogonadism 10.3
5 male infertility 10.2
6 infertility 10.2
7 renal hypodysplasia/aplasia 1 10.2
8 bronchiectasis with or without elevated sweat chloride 1 10.2
9 cryptorchidism, unilateral or bilateral 10.2
10 renal hypodysplasia/aplasia 3 10.2
11 pancreatitis 10.2
12 renal dysplasia, cystic 10.2
13 multicystic dysplastic kidney 10.2
14 spermatocele 10.1

Graphical network of the top 20 diseases related to Vas Deferens, Congenital Bilateral Aplasia of:



Diseases related to Vas Deferens, Congenital Bilateral Aplasia of

Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of

Human phenotypes related to Vas Deferens, Congenital Bilateral Aplasia of:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0003251
2 obstructive azoospermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011962
3 absent vas deferens 60 33 hallmark (90%) Very frequent (99-80%) HP:0012873
4 oligospermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000798
5 abnormal renal morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012210
6 azoospermia 33 HP:0000027

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
vas deferens aplasia

Clinical features from OMIM:

277180

Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of

Search Clinical Trials , NIH Clinical Center for Vas Deferens, Congenital Bilateral Aplasia of

Genetic Tests for Vas Deferens, Congenital Bilateral Aplasia of

Genetic tests related to Vas Deferens, Congenital Bilateral Aplasia of:

# Genetic test Affiliating Genes
1 Congenital Bilateral Absence of the Vas Deferens 30 CFTR

Anatomical Context for Vas Deferens, Congenital Bilateral Aplasia of

MalaCards organs/tissues related to Vas Deferens, Congenital Bilateral Aplasia of:

42
Testes, Kidney

Publications for Vas Deferens, Congenital Bilateral Aplasia of

Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show top 50) (show all 108)
# Title Authors Year
1
A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population ( 29986553 )
2019
2
SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD). ( 30632488 )
2019
3
The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD). ( 30797621 )
2019
4
The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens. ( 29864494 )
2018
5
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. ( 29216686 )
2018
6
Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees. ( 30450785 )
2018
7
An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis. ( 29662826 )
2018
8
Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population. ( 28805948 )
2017
9
Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. ( 26989879 )
2016
10
Re: Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure. ( 25617301 )
2015
11
Re: Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure. ( 25895795 )
2015
12
Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men. ( 25755137 )
2015
13
Relationship of paternal age with outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection, in cases of congenital bilateral absence of the vas deferens. ( 26144574 )
2015
14
Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure. ( 25010724 )
2014
15
Re: Lu et al.: Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of the vas deferens and other acquired obstructive azoospermia (Urology 2013;82:824-828). ( 24581531 )
2014
16
Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens. ( 25170420 )
2014
17
The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. ( 24551851 )
2014
18
Cystic fibrosis transmembrane regulator mutation and congenital bilateral absence of the vas deferens: a bad combination for successful intracytoplasmic sperm injection outcomes. ( 24636394 )
2014
19
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. ( 23378603 )
2013
20
Screening of ΔF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD. ( 21762191 )
2012
21
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. ( 22081250 )
2012
22
[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]. ( 23214250 )
2012
23
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. ( 22842702 )
2012
24
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. ( 21520337 )
2011
25
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. ( 20972246 )
2011
26
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. ( 20100616 )
2010
27
CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis. ( 19737283 )
2009
28
Activated caspases in thawed epididymal and testicular spermatozoa of patients with congenital bilateral absence of the vas deferens and intracytoplasmic sperm injection outcome. ( 18774565 )
2009
29
Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. ( 19095672 )
2009
30
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. ( 19880712 )
2009
31
Could a defective epithelial sodium channel lead to bronchiectasis. ( 18507830 )
2008
32
Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains. ( 18769034 )
2008
33
The role of the F508C mutation in congenital bilateral absence of the vas deferens. ( 19092444 )
2008
34
Congenital bilateral absence of the vas deferens. ( 18558214 )
2008
35
Novel CFTR gene mutation in a patient with CBAVD. ( 17398169 )
2007
36
Large genomic rearrangements in the CFTR gene contribute to CBAVD. ( 17448246 )
2007
37
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. ( 17329263 )
2007
38
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. ( 17975025 )
2007
39
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. ( 17314234 )
2007
40
A large deletion in the CFTR gene in CBAVD. ( 16481891 )
2006
41
Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). ( 17050329 )
2006
42
Congenital bilateral absence of the vas deferens and recombination at CFTR. ( 16639412 )
2006
43
Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. ( 16714368 )
2006
44
Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. ( 16973827 )
2006
45
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). ( 15580565 )
2005
46
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. ( 15905293 )
2005
47
A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. ( 15705389 )
2005
48
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. ( 16272798 )
2005
49
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. ( 14685937 )
2004
50
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. ( 15357566 )
2004

Variations for Vas Deferens, Congenital Bilateral Aplasia of

UniProtKB/Swiss-Prot genetic disease variations for Vas Deferens, Congenital Bilateral Aplasia of:

76 (show all 20)
# Symbol AA change Variation ID SNP ID
1 CFTR p.Ser50Tyr VAR_000107 rs397508220
2 CFTR p.Arg74Trp VAR_000110 rs115545701
3 CFTR p.Pro111Leu VAR_000120 rs140502196
4 CFTR p.Arg117His VAR_000122 rs78655421
5 CFTR p.Gly149Arg VAR_000129 rs397508718
6 CFTR p.Glu193Lys VAR_000132 rs397508759
7 CFTR p.Leu206Trp VAR_000136 rs121908752
8 CFTR p.Met244Lys VAR_000138 rs397508790
9 CFTR p.Arg258Gly VAR_000139 rs191456345
10 CFTR p.Arg334Trp VAR_000148 rs121909011
11 CFTR p.Asp513Gly VAR_000173 rs397508225
12 CFTR p.Gly544Val VAR_000175 rs397508241
13 CFTR p.Arg766Met VAR_000215 rs397508363
14 CFTR p.Arg792Gly VAR_000216 rs145449046
15 CFTR p.Ala800Gly VAR_000217 rs397508373
16 CFTR p.Ile807Met VAR_000218 rs1800103
17 CFTR p.Asp1152His VAR_000251 rs75541969
18 CFTR p.Asp1270Asn VAR_000260 rs11971167
19 CFTR p.Ala1364Val VAR_000269 rs397508670
20 CFTR p.Arg1070Trp VAR_011564 rs202179988

ClinVar genetic disease variations for Vas Deferens, Congenital Bilateral Aplasia of:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
2 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
3 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
4 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh38 Chromosome 7, 117548795: 117548795
5 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
6 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh38 Chromosome 7, 117587778: 117587778
7 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
8 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh38 Chromosome 7, 117587801: 117587801
9 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
10 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
11 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
12 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
13 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
14 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh38 Chromosome 7, 117642566: 117642566
15 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh37 Chromosome 7, 117180284: 117180284
16 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh38 Chromosome 7, 117540230: 117540230
17 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh37 Chromosome 7, 117267579: 117267579
18 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh38 Chromosome 7, 117627525: 117627525
19 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh37 Chromosome 7, 117199600: 117199600
20 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh38 Chromosome 7, 117559546: 117559546
21 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh37 Chromosome 7, 117282582: 117282582
22 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh38 Chromosome 7, 117642528: 117642528
23 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh37 Chromosome 7, 117230454: 117230454
24 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh38 Chromosome 7, 117590400: 117590400
25 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
26 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
27 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
28 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
29 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh37 Chromosome 7, 117251761: 117251761
30 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh38 Chromosome 7, 117611707: 117611707
31 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh37 Chromosome 7, 117180339: 117180339
32 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh38 Chromosome 7, 117540285: 117540285
33 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
34 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh38 Chromosome 7, 117606754: 117606754
35 CFTR NM_000492.3(CFTR): c.1367T> C (p.Val456Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922500 GRCh37 Chromosome 7, 117188852: 117188852
36 CFTR NM_000492.3(CFTR): c.1367T> C (p.Val456Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922500 GRCh38 Chromosome 7, 117548798: 117548798
37 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086
38 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908759 GRCh38 Chromosome 7, 117592032: 117592032
39 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh37 Chromosome 7, 117232223: 117232223
40 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh38 Chromosome 7, 117592169: 117592169
41 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh37 Chromosome 7, 117232272: 117232273
42 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh38 Chromosome 7, 117592218: 117592219
43 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh37 Chromosome 7, 117232642: 117232642
44 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh38 Chromosome 7, 117592588: 117592588
45 CFTR NM_000492.3(CFTR): c.2813T> G (p.Val938Gly) single nucleotide variant Uncertain significance rs193922511 GRCh37 Chromosome 7, 117243741: 117243741
46 CFTR NM_000492.3(CFTR): c.2813T> G (p.Val938Gly) single nucleotide variant Uncertain significance rs193922511 GRCh38 Chromosome 7, 117603687: 117603687
47 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant drug response rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
48 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant drug response rs78769542 GRCh38 Chromosome 7, 117611650: 117611650
49 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
50 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh38 Chromosome 7, 117664780: 117664780

Copy number variations for Vas Deferens, Congenital Bilateral Aplasia of from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 218756 7 116907252 117095954 Deletion CFTR Congenital bilateral absence of the vas deferens
2 218760 7 116907252 117095954 Genomic rearrangement CFTR Congenital bilateral absence of the vas deferens

Expression for Vas Deferens, Congenital Bilateral Aplasia of

Search GEO for disease gene expression data for Vas Deferens, Congenital Bilateral Aplasia of.

Pathways for Vas Deferens, Congenital Bilateral Aplasia of

Pathways related to Vas Deferens, Congenital Bilateral Aplasia of according to KEGG:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010

GO Terms for Vas Deferens, Congenital Bilateral Aplasia of

Cellular components related to Vas Deferens, Congenital Bilateral Aplasia of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 ADGRG2 CFTR
2 apical plasma membrane GO:0016324 8.62 ADGRG2 CFTR

Sources for Vas Deferens, Congenital Bilateral Aplasia of

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