CBAVD
MCID: VSD002
MIFTS: 50

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 57 73
Congenital Bilateral Absence of Vas Deferens 57 12 43 58 36 13 15
Cbavd 57 12 20 43 72 54
Cavd 57 12 20 43 72
Congenital Bilateral Absence of the Vas Deferens 20 43 72 29
Congenital Bilateral Aplasia of Vas Deferens 12 20 58
Congenital Bilateral Agenesis of Vas Deferens 12 58
Vas Deferens, Congenital Bilateral Absence 39
Congenital Absence of Vas Deferens 43
Congenital Aplasia of Vas Deferens 43
Male Urogenital Diseases 44
Absence of Vas Deferens 43
Absent Vas Deferens 6
Absent Vasa 43

Characteristics:

Orphanet epidemiological data:

58
congenital bilateral absence of vas deferens
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
vas deferens, congenital bilateral aplasia of:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare infertility disorders
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111862
OMIM® 57 277180
OMIM Phenotypic Series 57 PS277180
KEGG 36 H01033
MeSH 44 D052801
MESH via Orphanet 45 C535984
ICD10 via Orphanet 33 Q55.4
UMLS via Orphanet 71 C0403814
Orphanet 58 ORPHA48

Summaries for Vas Deferens, Congenital Bilateral Aplasia of

MedlinePlus Genetics : 43 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.This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Cystic fibrosis causes progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of the vas deferens 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 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. The drugs Dipeptidyl-Peptidase IV Inhibitors and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and liver, and related phenotypes are male infertility and obstructive azoospermia

Disease Ontology : 12 An azoospermia characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.

GARD : 20 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified.

UniProtKB/Swiss-Prot : 72 Congenital bilateral absence of the vas deferens: An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis.

Wikipedia : 73 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 vas deferens, congenital bilateral aplasia of, x-linked 33.3 CFTR ADGRG2
2 cystic fibrosis 32.0 SPINK1 SLC9A3 LOC113664106 LOC113633877 LOC111674477 LOC111674475
3 prss1-related hereditary pancreatitis 31.2 SPINK1 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1
4 pancreatitis, hereditary 31.2 SPINK1 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1
5 azoospermia 31.2 USP26 PRM2 CFTR ADGRG2
6 pancreatitis 31.1 SPINK1 CFTR-AS1 CFTR
7 male infertility 31.0 USP26 TNP2 SPATA16 PRM2 CFTR ADGRG2
8 bronchiectasis with or without elevated sweat chloride 1 30.9 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
9 infertility 30.9 USP26 TNP2 SPATA16 PRM2 CFTR ADGRG2
10 spermatocele 30.8 SLC9A3 CFTR
11 spermatogenic failure 50 30.7 USP26 TNP2 SPATA16 PRM2
12 autosomal recessive congenital bilateral absence of vas deferens 11.8
13 renal hypodysplasia/aplasia 1 10.4
14 pancreatic agenesis 1 10.4 SPINK1 CFTR
15 biliary dyskinesia 10.4 SPINK1 CFTR
16 diarrhea 8, secretory sodium, congenital 10.4 SLC9A3 CFTR
17 spermatogenic failure, x-linked, 1 10.4 USP26 SPATA16 PRM2
18 oligoasthenoteratozoospermia 10.4 TNP2 SPATA16 PRM2
19 syphilitic meningitis 10.4 ITIH4 ENPEP
20 meconium ileus 10.4 SLC9A3 CFTR
21 spermatogenic failure 9 10.3 TNP2 SPATA16 PRM2
22 oligospermia 10.3 USP26 TNP2 PRM2 CFTR
23 idiopathic bronchiectasis 10.3 LOC113664106 LOC113633877 LOC111674475 LOC111674472 CFTR-AS1 CFTR
24 progressive relapsing multiple sclerosis 10.3 TNP2 PRM2
25 duodenal atresia 10.3 CFTR-AS1 CFTR
26 hypogonadotropic hypogonadism 10.3
27 proteasome-associated autoinflammatory syndrome 1 10.3
28 young syndrome 10.3
29 varicocele 10.3
30 craniosynostosis 10.3
31 47,xyy 10.3
32 pelvic varices 10.3 TNP2 PRM2
33 autosomal recessive disease 10.3
34 ectopic pregnancy 10.3
35 bronchiectasis 10.3
36 secretory diarrhea 10.2 SLC9A3 CFTR
37 respiratory failure 10.1
38 pituitary adenoma 10.1
39 inguinal hernia 10.1
40 multicystic dysplastic kidney 10.1
41 alcoholic pancreatitis 10.1 SPINK1 CFTR
42 aortic valve disease 1 10.1
43 aortic valve disease 2 9.9
44 influenza 9.9
45 balanoposthitis 9.9
46 urethritis 9.9
47 prostatitis 9.9
48 fibrosis of extraocular muscles, congenital, 1 9.9
49 cryptorchidism, unilateral or bilateral 9.9
50 bronchiolitis obliterans 9.9

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
2 obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011962
3 absent vas deferens 58 31 hallmark (90%) Very frequent (99-80%) HP:0012873
4 abnormal renal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012210
5 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
6 azoospermia 31 HP:0000027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
vas deferens aplasia

Clinical features from OMIM®:

277180 (Updated 05-Apr-2021)

Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of

Drugs for Vas Deferens, Congenital Bilateral Aplasia of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dipeptidyl-Peptidase IV Inhibitors Phase 4
2
Oxybutynin Approved, Investigational Phase 2 5633-20-5 4634
3 Parasympatholytics Phase 2
4 Neurotransmitter Agents Phase 2
5 Muscarinic Antagonists Phase 2
6 Cholinergic Agents Phase 2
7 Liver Extracts Phase 2
8 Cholinergic Antagonists Phase 2
9
Ceftriaxone Approved Phase 1 73384-59-5 5479530 5361919
10
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
11 Antibiotics, Antitubercular Phase 1
12 Anesthetics Phase 1
13 Anti-Bacterial Agents Phase 1
14
Desflurane Approved 57041-67-5 42113
15
Nimodipine Approved, Investigational 66085-59-4 4497

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Randomized Study of Inhibitory Effect of Evogliptin, the Dipeptidyl Peptidase-4 Inhibitor, on the Progression of Aortic Valve Calcification in Patients With Type 2 Diabetes Mellitus and Mild-to-moderate Aortic Stenosis Not yet recruiting NCT04521452 Phase 4 Evogliptin
2 Prospective Randomized Clinical Trial of Early Oxybutinin Treatment for Boys With Posterior Urethral Valves Not yet recruiting NCT04526353 Phase 2 Oxybutynin 1 mg/ml Syrup
3 Soractelite(Tm) Transperineal Laser Ablation for Benign Prostatic Hyperplasia With Bladder Outlet Obstruction Recruiting NCT04760483 Phase 1
4 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800
5 Comparing Gas Consumption With Conventional Low Flow Ventilation and Gas Control Systems From Two Different Anesthesia Machines: Flow-i and Aisys Completed NCT02774031

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

Cochrane evidence based reviews: male urogenital diseases

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 29

Anatomical Context for Vas Deferens, Congenital Bilateral Aplasia of

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

40
Testes, Prostate, Liver, Pancreas, Uterus, Kidney, Lung

Publications for Vas Deferens, Congenital Bilateral Aplasia of

Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show top 50) (show all 304)
# Title Authors PMID Year
1
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 57 6 54 61
7529962 1995
2
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. 6 61 57
27476656 2016
3
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. 61 57 6
16778595 2006
4
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. 6 57 54
7739684 1995
5
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 57 6
17413420 2007
6
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. 57 6
1545465 1992
7
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure. 54 61 6
18796364 2008
8
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. 6 54 61
15905293 2005
9
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. 61 6
22483971 2012
10
Recommendations for the classification of diseases as CFTR-related disorders. 6 61
21658649 2011
11
Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation. 61 6
20691141 2010
12
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. 61 6
19810821 2009
13
Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility. 54 6
18567645 2008
14
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. 6 54
17314234 2007
15
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. 54 6
17329263 2007
16
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. 6 54
16840743 2006
17
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. 6 54
16272798 2005
18
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 6 54
15287992 2004
19
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. 54 6
15070876 2004
20
CFTR genotypes in patients with normal or borderline sweat chloride levels. 6 54
12955726 2003
21
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 6 54
10923036 2000
22
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. 6 54
10376575 1999
23
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online. 6 54
10200050 1998
24
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 6 54
9239681 1996
25
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients. 6 54
8829643 1996
26
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. 54 57
8557264 1996
27
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. 57 54
7539210 1995
28
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 6 61
7539342 1995
29
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. 54 6
8556303 1995
30
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. 61 57
7968122 1994
31
On the familial occurrence of congenital bilateral absence of vas deferens. 61 57
2311268 1990
32
On the familial occurrence of congenital bilateral absence of vas deferens. 61 57
2653673 1989
33
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients. 6
33374015 2021
34
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population. 6
32003480 2020
35
Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy. 6
31005549 2019
36
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies. 57
30214069 2019
37
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics. 6
28544683 2018
38
Comorbidity of the congenital absence of the vas deferens. 6
29484681 2018
39
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons. 6
29497617 2018
40
What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 6
28830496 2017
41
Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators. 6
28785019 2017
42
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis. 6
27171515 2016
43
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. 6
27264265 2016
44
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
45
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. 6
26847993 2016
46
Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk. 6
25880441 2016
47
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations. 6
25735457 2016
48
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments. 6
26437683 2015
49
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens. 6
26277102 2015
50
Clinical expression of patients with the D1152H CFTR mutation. 6
25583415 2015

Variations for Vas Deferens, Congenital Bilateral Aplasia of

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

6 (show top 50) (show all 253)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG2 NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs) Indel Pathogenic 253014 rs879255539 GRCh37: X:19021188-19021192
GRCh38: X:19003070-19003074
2 ADGRG2 NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter) Duplication Pathogenic 253015 rs774488954 GRCh37: X:19026118-19026119
GRCh38: X:19008000-19008001
3 ADGRG2 NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs) Deletion Pathogenic 253013 rs879255538 GRCh37: X:19013038-19013038
GRCh38: X:18994920-18994920
4 ADGRG2 NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter) SNV Pathogenic 691628 rs1016696059 GRCh37: X:19017255-19017255
GRCh38: X:18999137-18999137
5 ADGRG2 NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs) Duplication Pathogenic 691629 rs1601856142 GRCh37: X:19021097-19021098
GRCh38: X:19002979-19002980
6 ADGRG2 NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter) SNV Pathogenic 691630 rs1601950543 GRCh37: X:19054071-19054071
GRCh38: X:19035953-19035953
7 ADGRG2 NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs) Deletion Pathogenic 691631 rs1601871234 GRCh37: X:19026204-19026204
GRCh38: X:19008086-19008086
8 ADGRG2 NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs) Deletion Pathogenic 691632 rs1601888330 GRCh37: X:19031890-19031890
GRCh38: X:19013772-19013772
9 ADGRG2 NM_001079858.3(ADGRG2):c.1731_1839+373del Deletion Pathogenic 691633 rs1601862802 GRCh37: X:19023747-19024342
GRCh38: X:19005629-19006224
10 CFTR , CFTR-AS1 NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) SNV Pathogenic 618946 rs367934560 GRCh37: 7:117188786-117188786
GRCh38: 7:117548732-117548732
11 CFTR NM_000492.3(CFTR):c.1692del (p.Asp565fs) Deletion Pathogenic 35831 rs193922505 GRCh37: 7:117230417-117230417
GRCh38: 7:117590363-117590363
12 CFTR NM_000492.3(CFTR):c.870-1G>C SNV Pathogenic 554875 rs1351058559 GRCh37: 7:117180153-117180153
GRCh38: 7:117540099-117540099
13 CFTR , LOC111674477 NM_000492.3(CFTR):c.4243-2A>G SNV Pathogenic 552958 rs397508705 GRCh37: 7:117306960-117306960
GRCh38: 7:117666906-117666906
14 CFTR NM_000492.3(CFTR):c.319_326del (p.Ile106_Ala107insTer) Deletion Pathogenic 53680 rs397508516 GRCh37: 7:117170996-117171003
GRCh38: 7:117530942-117530949
15 CFTR NM_000492.3(CFTR):c.2502dup (p.Asp835Ter) Duplication Pathogenic 53503 rs397508389 GRCh37: 7:117234989-117234990
GRCh38: 7:117594935-117594936
16 CFTR NM_000492.3(CFTR):c.3368-2A>T SNV Pathogenic 371331 rs755416052 GRCh37: 7:117254665-117254665
GRCh38: 7:117614611-117614611
17 CFTR NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) SNV Pathogenic 35850 rs193922511 GRCh37: 7:117243741-117243741
GRCh38: 7:117603687-117603687
18 CFTR NM_000492.3(CFTR):c.794T>G (p.Met265Arg) SNV Pathogenic 54058 rs148519623 GRCh37: 7:117176652-117176652
GRCh38: 7:117536598-117536598
19 CFTR NM_000492.4(CFTR):c.1019_1020TC[3] (p.Phe342fs) Microsatellite Pathogenic 7134 rs387906360 GRCh37: 7:117180302-117180303
GRCh38: 7:117540248-117540249
20 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1210-2A>C SNV Pathogenic 53218 rs397508179 GRCh37: 7:117188693-117188693
GRCh38: 7:117548639-117548639
21 CFTR NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) SNV Pathogenic 53365 rs397508288 GRCh37: 7:117230463-117230463
GRCh38: 7:117590409-117590409
22 CFTR NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) SNV Pathogenic 53403 rs201124247 GRCh37: 7:117232062-117232062
GRCh38: 7:117592008-117592008
23 CFTR NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) Duplication Pathogenic 813401 rs1584812217 GRCh37: 7:117232140-117232141
GRCh38: 7:117592086-117592087
24 CFTR , LOC111674472 NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) SNV Pathogenic 53652 rs397508498 GRCh37: 7:117250691-117250691
GRCh38: 7:117610637-117610637
25 CFTR , LOC111674472 NM_000492.4(CFTR):c.3139+1del Deletion Pathogenic 370821 rs780546355 GRCh37: 7:117250723-117250723
GRCh38: 7:117610669-117610669
26 CFTR NM_000492.4(CFTR):c.328G>C (p.Asp110His) SNV Pathogenic 7108 rs113993958 GRCh37: 7:117171007-117171007
GRCh38: 7:117530953-117530953
27 CFTR NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) SNV Pathogenic 53487 rs397508375 GRCh37: 7:117232638-117232638
GRCh38: 7:117592584-117592584
28 CFTR NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) SNV Pathogenic 53601 rs141033578 GRCh37: 7:117246749-117246749
GRCh38: 7:117606695-117606695
29 CFTR , LOC111674472 NM_000492.4(CFTR):c.3297C>A SNV Pathogenic 286681 rs747754623 GRCh37: 7:117251792-117251792
GRCh38: 7:117611738-117611738
30 CFTR NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) SNV Pathogenic 53805 rs397508604 GRCh37: 7:117282535-117282535
GRCh38: 7:117642481-117642481
31 CFTR NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) SNV Pathogenic 35833 rs121908759 GRCh37: 7:117232086-117232086
GRCh38: 7:117592032-117592032
32 CFTR NM_000492.4(CFTR):c.489+3A>G SNV Pathogenic 53971 rs377729736 GRCh37: 7:117171171-117171171
GRCh38: 7:117531117-117531117
33 CFTR NM_000492.3(CFTR):c.490-1G>A SNV Pathogenic 53974 rs397508734 GRCh37: 7:117174329-117174329
GRCh38: 7:117534275-117534275
34 CFTR NM_000492.3(CFTR):c.2620-26A>G SNV Pathogenic 53529 rs201716473 GRCh37: 7:117242854-117242854
GRCh38: 7:117602800-117602800
35 CFTR NM_000492.4(CFTR):c.1705T>G SNV Pathogenic 53352 rs397508276 GRCh37: 7:117230432-117230432
GRCh38: 7:117590378-117590378
36 CFTR NM_000492.3(CFTR):c.2856G>A (p.Met952Ile) SNV Pathogenic 596906 rs151048781 GRCh37: 7:117243784-117243784
GRCh38: 7:117603730-117603730
37 CFTR NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter) SNV Pathogenic 53492 rs397508378 GRCh37: 7:117232685-117232685
GRCh38: 7:117592631-117592631
38 CFTR , LOC111674472 NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) SNV Pathogenic 35865 rs150212784 GRCh37: 7:117251649-117251649
GRCh38: 7:117611595-117611595
39 CFTR , LOC111674472 NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) SNV Pathogenic 53685 rs202179988 GRCh37: 7:117251703-117251703
GRCh38: 7:117611649-117611649
40 CFTR NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) SNV Pathogenic 48688 rs77834169 GRCh37: 7:117171028-117171028
GRCh38: 7:117530974-117530974
41 CFTR NM_000492.4(CFTR):c.350G>A (p.Arg117His) SNV Pathogenic 7109 rs78655421 GRCh37: 7:117171029-117171029
GRCh38: 7:117530975-117530975
42 CFTR NM_000492.4(CFTR):c.489+1G>T SNV Pathogenic 38799 rs78756941 GRCh37: 7:117171169-117171169
GRCh38: 7:117531115-117531115
43 CFTR NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) SNV Pathogenic 48692 rs80282562 GRCh37: 7:117174372-117174372
GRCh38: 7:117534318-117534318
44 CFTR NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) SNV Pathogenic 54007 rs397508759 GRCh37: 7:117174417-117174417
GRCh38: 7:117534363-117534363
45 CFTR NM_000492.3(CFTR):c.595C>T (p.His199Tyr) SNV Pathogenic 54018 rs121908802 GRCh37: 7:117175317-117175317
GRCh38: 7:117535263-117535263
46 CFTR NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) SNV Pathogenic 7190 rs121908752 GRCh37: 7:117175339-117175339
GRCh38: 7:117535285-117535285
47 CFTR , LOC111674472 NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) SNV Pathogenic 38728 rs121908761 GRCh37: 7:117251771-117251771
GRCh38: 7:117611717-117611717
48 CFTR NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) SNV Pathogenic 7144 rs79850223 GRCh37: 7:117267579-117267579
GRCh38: 7:117627525-117627525
49 CFTR , LOC113633877 NM_000492.3(CFTR):c.3718-2477C>T SNV Pathogenic 7166 rs75039782 GRCh37: 7:117280015-117280015
GRCh38: 7:117639961-117639961
50 CFTR NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) SNV Pathogenic 53797 rs267606723 GRCh37: 7:117282505-117282505
GRCh38: 7:117642451-117642451

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

72 (show all 21)
# 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.Gly622Asp VAR_000206 rs121908759
14 CFTR p.Arg766Met VAR_000215 rs397508363
15 CFTR p.Arg792Gly VAR_000216 rs145449046
16 CFTR p.Ala800Gly VAR_000217 rs397508373
17 CFTR p.Ile807Met VAR_000218 rs1800103
18 CFTR p.Asp1152His VAR_000251 rs75541969
19 CFTR p.Asp1270Asn VAR_000260 rs11971167
20 CFTR p.Ala1364Val VAR_000269 rs397508670
21 CFTR p.Arg1070Trp VAR_011564 rs202179988

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

7
# CNVD ID Chromosome 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:

36
# 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 apical plasma membrane GO:0016324 8.92 SLC9A3 ENPEP CFTR ADGRG2

Biological processes related to Vas Deferens, Congenital Bilateral Aplasia of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.35 TNP2 SPATA16 PRM2 EFCAB9 ADGRG2
2 sperm capacitation GO:0048240 8.8 SPINK1 EFCAB9 CFTR

Sources for Vas Deferens, Congenital Bilateral Aplasia of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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