CBAVD
MCID: VSD002
MIFTS: 45

Vas Deferens, Congenital Bilateral Aplasia of (CBAVD)

Categories: Endocrine diseases, 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 56 74
Congenital Bilateral Absence of Vas Deferens 56 12 25 58 36 29 13
Cbavd 56 12 52 25 73 54
Cavd 56 12 52 25
Congenital Bilateral Absence of the Vas Deferens 52 25 73
Congenital Bilateral Aplasia of Vas Deferens 12 52 58
Congenital Bilateral Agenesis of Vas Deferens 12 58
Vas Deferens, Congenital Bilateral Absence 39
Congenital Absence of Vas Deferens 25
Congenital Aplasia of Vas Deferens 25
Absence of Vas Deferens 25
Absent Vas Deferens 6
Absent Vasa 25

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:

56
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 56 277180
OMIM Phenotypic Series 56 PS277180
KEGG 36 H01033
MESH via Orphanet 44 C535984
ICD10 via Orphanet 33 Q55.4
UMLS via Orphanet 72 C0403814
Orphanet 58 ORPHA48

Summaries for Vas Deferens, Congenital Bilateral Aplasia of

Genetics Home Reference : 25 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 azoospermia and male infertility. 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 Phylloquinone and Menadione have been mentioned in the context of this disorder. Affiliated tissues include testes, lung and prostate, 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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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

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:

56
Genitourinary Internal Genitalia Male:
azoospermia
vas deferens aplasia

Clinical features from OMIM:

277180

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
Phylloquinone Approved, Investigational Phase 2 84-80-0
2
Menadione Approved, Nutraceutical Phase 2 58-27-5 4055
3 Menaquinone Investigational Phase 2 1182-68-9
4 Trace Elements Phase 2
5 Micronutrients Phase 2
6 Vitamins Phase 2
7 Hemostatics Phase 2
8 Antifibrinolytic Agents Phase 2
9 Nutrients Phase 2
10 Vitamin K Phase 2
11 naphthoquinone Phase 2
12 Vitamin K 2 Phase 2
13 Coagulants Phase 2
14 Calcium, Dietary
15
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bicuspid Aortic Valve Stenosis and the Effect of vItamin K2 on Calciummetabolism on 18F-NaF PET/MRI (BASIK2): a Pilot Study Unknown status NCT02917525 Phase 2
2 Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD Unknown status NCT02516800
3 Analysis and Comparative Evaluation of Aortic Calcium by Computed Tomography and Histopathology in Patients With Aortic Stenosis Recruiting NCT04344353

Search 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 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, Lung, Prostate, Uterus, Kidney, Pancreas, Testis

Publications for Vas Deferens, Congenital Bilateral Aplasia of

Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show top 50) (show all 194)
# Title Authors PMID Year
1
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. 6 56
1545465 1992
2
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 61 54 56
7529962 1995
3
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. 61 56
27476656 2016
4
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
5
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. 61 56
16778595 2006
6
CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. 54 6
15463840 2003
7
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. 54 56
8557264 1996
8
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. 56 54
7739684 1995
9
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. 54 56
7539210 1995
10
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. 6 54
8556303 1995
11
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. 61 56
7968122 1994
12
On the familial occurrence of congenital bilateral absence of vas deferens. 61 56
2311268 1990
13
On the familial occurrence of congenital bilateral absence of vas deferens. 56 61
2653673 1989
14
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. 56
30214069 2019
15
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. 6
19880712 2009
16
Could a defective epithelial sodium channel lead to bronchiectasis. 6
18507830 2008
17
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 56
17413420 2007
18
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. 6
14993601 2004
19
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. 6
14685937 2004
20
Cystic fibrosis: a further case of an asymptomatic compound heterozygote. 6
11746017 2001
21
Cystic Fibrosis and Congenital Absence of the Vas Deferens 6
20301428 2001
22
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 6
9272157 1997
23
CFTR gene variant for patients with congenital absence of vas deferens. 6
7573058 1995
24
A mutation in CFTR produces different phenotypes depending on chromosomal background. 6
7506096 1993
25
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. 6
7692051 1993
26
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. 6
7684646 1993
27
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. 6
8421472 1993
28
Cystic fibrosis manifested as undescended testis and absence of vas deferens. 56
1359500 1992
29
Congenital absence of the vas deferens: recurrence in a family. 56
1632444 1992
30
Cystic fibrosis and congenital absence of the vas deferens. 56
2046716 1991
31
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 6
1937486 1991
32
Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm. 56
2247117 1990
33
Complex alleles of the acid beta-glucosidase gene in Gaucher disease. 6
2349952 1990
34
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 6
2344617 1990
35
Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs. 56
4018795 1985
36
Familial occurrence of azoospermia and extreme oligozoospermia. 56
6499267 1984
37
Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings. 56
7418895 1980
38
Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system. 56
5357932 1969
39
Reproductive failure in males with cystic fibrosis. 56
5657013 1968
40
Is CFTR 621+3 A>G a cystic fibrosis causing mutation? 61 54
19893581 2010
41
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
18796364 2008
42
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens. 61 54
18304229 2008
43
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene. 61 54
17234733 2007
44
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. 61 54
15905293 2005
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). 54 61
15580565 2005
46
The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. 54 61
15482777 2004
47
Genetic analysis of males from intracytoplasmic sperm injection couples. 54 61
12919133 2003
48
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens. 54 61
11574497 2001
49
[Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injections]. 54 61
10771546 2000
50
[Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injection]. 54 61
10235038 1999

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 218) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFTR NM_000492.4(CFTR):c.1153_1154TA[3] (p.Asn386fs)short repeat Pathogenic 487393 rs121908785 7:117182104-117182105 7:117542050-117542051
2 CFTR NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)SNV Pathogenic 618905 rs397508533 7:117251789-117251789 7:117611735-117611735
3 ADGRG2 NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter)SNV Pathogenic 691628 X:19017255-19017255 X:18999137-18999137
4 ADGRG2 NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)duplication Pathogenic 691629 X:19021097-19021098 X:19002979-19002980
5 ADGRG2 NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs)deletion Pathogenic 691631 X:19026204-19026204 X:19008086-19008086
6 ADGRG2 NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs)deletion Pathogenic 691632 X:19031890-19031890 X:19013772-19013772
7 ADGRG2 NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter)SNV Pathogenic 691630 X:19054071-19054071 X:19035953-19035953
8 ADGRG2 NM_001079858.3(ADGRG2):c.1731_1839+373deldeletion Pathogenic 691633 X:19023747-19024342 X:19005629-19006224
9 CFTR NM_000492.4(CFTR):c.350G>A (p.Arg117His)SNV Pathogenic 7109 rs78655421 7:117171029-117171029 7:117530975-117530975
10 CFTR NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)SNV Pathogenic 7110 rs77932196 7:117180324-117180324 7:117540270-117540270
11 CFTR NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)SNV Pathogenic 7111 rs74551128 7:117188849-117188849 7:117548795-117548795
12 CFTR NM_000492.4(CFTR):c.1585-1G>ASNV Pathogenic 7112 rs76713772 7:117227792-117227792 7:117587738-117587738
13 CFTR NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr)SNV Pathogenic 7113 rs80055610 7:117227887-117227887 7:117587833-117587833
14 CFTR NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn)SNV Pathogenic 7114 rs121909006 7:117230414-117230414 7:117590360-117590360
15 CFTR NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)SNV Pathogenic 7115 rs113993959 7:117227832-117227832 7:117587778-117587778
16 CFTR NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)SNV Pathogenic,drug response 7116 rs121908755 7:117227854-117227854 7:117587800-117587800
17 CFTR NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)SNV Pathogenic,drug response 40190 rs121909005 7:117227855-117227855 7:117587801-117587801
18 CFTR NM_000492.3(CFTR):c.1721C>A (p.Pro574His)SNV Pathogenic 7119 rs121908758 7:117230448-117230448 7:117590394-117590394
19 CFTR NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)SNV Pathogenic 7120 rs75527207 7:117227860-117227860 7:117587806-117587806
20 CFTR NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)SNV Pathogenic 7122 rs74597325 7:117227865-117227865 7:117587811-117587811
21 CFTR NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)SNV Pathogenic 7123 rs75549581 7:117227883-117227883 7:117587829-117587829
22 CFTR NM_000492.3(CFTR):c.3659delCdeletion Pathogenic 7124 rs121908811 7:117267766-117267766 7:117627712-117627712
23 CFTR NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter)SNV Pathogenic 7127 rs267606722 7:117235031-117235031 7:117594977-117594977
24 CFTR NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)SNV Pathogenic 618946 rs367934560 7:117188786-117188786 7:117548732-117548732
25 CFTR NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)SNV Pathogenic 7129 rs77010898 7:117282620-117282620 7:117642566-117642566
26 CFTR NM_000492.4(CFTR):c.1019_1020TC[3] (p.Phe342fs)short repeat Pathogenic 7134 rs387906360 7:117180302-117180303 7:117540248-117540249
27 CFTR NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)SNV Pathogenic 7136 rs80034486 7:117292931-117292931 7:117652877-117652877
28 CFTR NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)SNV Pathogenic 7137 rs74767530 7:117267591-117267591 7:117627537-117627537
29 CFTR NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)SNV Pathogenic 7139 rs121909011 7:117180284-117180284 7:117540230-117540230
30 CFTR NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)SNV Pathogenic 7141 rs121909012 7:117235044-117235044 7:117594990-117594990
31 CFTR NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)SNV Pathogenic 7143 rs75961395 7:117149177-117149177 7:117509123-117509123
32 CFTR NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)SNV Pathogenic 7144 rs79850223 7:117267579-117267579 7:117627525-117627525
33 CFTR NM_000492.3(CFTR):c.1558G>T (p.Val520Phe)SNV Pathogenic 7150 rs77646904 7:117199683-117199683 7:117559629-117559629
34 CFTR NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe)SNV Pathogenic 7155 rs121909017 7:117199600-117199600 7:117559546-117559546
35 CFTR NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)SNV Pathogenic 7158 rs121909019 7:117251692-117251692 7:117611638-117611638
36 CFTR NM_000492.4(CFTR):c.3873+1G>ASNV Pathogenic 7160 rs143570767 7:117282648-117282648 7:117642594-117642594
37 CFTR NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)SNV Pathogenic 7162 rs78194216 7:117251691-117251691 7:117611637-117611637
38 CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)deletion Pathogenic 7105 rs113993960 7:117199645-117199647 7:117559591-117559593
39 CFTR NM_000492.4(CFTR):c.1516_1518ATC[1] (p.Ile507del)short repeat Pathogenic 7106 rs121908745 7:117199641-117199643 7:117559587-117559589
40 CFTR NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter)SNV Pathogenic 7107 rs77101217 7:117199602-117199602 7:117559548-117559548
41 CFTR NM_000492.3(CFTR):c.3718-2477C>TSNV Pathogenic 7166 rs75039782 7:117280015-117280015 7:117639961-117639961
42 CFTR NM_000492.4(CFTR):c.1766+1G>ASNV Pathogenic 7168 rs121908748 7:117230494-117230494 7:117590440-117590440
43 CFTR NM_000492.4(CFTR):c.1040G>A (p.Arg347His)SNV Pathogenic,drug response 7182 rs77932196 7:117180324-117180324 7:117540270-117540270
44 CFTR NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)duplication Pathogenic 7185 rs746418935 7:117232394-117232395 7:117592340-117592341
45 CFTR NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)SNV Pathogenic 7186 rs121908751 7:117170953-117170953 7:117530899-117530899
46 CFTR NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)SNV Pathogenic,drug response 7190 rs121908752 7:117175339-117175339 7:117535285-117535285
47 CFTR NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)SNV Pathogenic 7194 rs78802634 7:117251761-117251761 7:117611707-117611707
48 CFTR NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)SNV Pathogenic,drug response 7198 rs121908753 7:117180339-117180339 7:117540285-117540285
49 CFTR NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter)SNV Pathogenic 7203 rs75115087 7:117232349-117232349 7:117592295-117592295
50 CFTR NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro)SNV Pathogenic 7208 rs121909036 7:117251689-117251689 7:117611635-117611635

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

73 (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 integral component of plasma membrane GO:0005887 9.16 CFTR ADGRG2
2 cell surface GO:0009986 8.96 CFTR ADGRG2
3 apical plasma membrane GO:0016324 8.62 CFTR ADGRG2

Sources for Vas Deferens, Congenital Bilateral Aplasia of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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