Congenital bilateral aplasia of vas deferens from CFTR mutation
Summary
Excerpted from the GeneReview:Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Adrienne Savant
- Benjamin Lyman
- Christine Bojanowski
- view full author information
Available tests
92 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (92 available)
Molecular Genetics Tests
- Targeted variant analysis (19)
- Mutation scanning of select exons (4)
- Mutation scanning of the entire coding region (2)
- Sequence analysis of the entire coding region (71)
- Linkage analysis (1)
- Deletion/duplication analysis (58)
- Microsatellite instability testing (MSI) (1)
- Sequence analysis of select exons (3)
Clinical features
Help- Abnormality of the genitourinary system
- Absent vas deferens
Absent vas deferens
- MedGen UID: 539922
- Concept ID: C0266444
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Azoospermia
Azoospermia
- MedGen UID: 2150
- Concept ID: C0004509
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Male infertility
Male infertility
- MedGen UID: 5796
- Concept ID: C0021364
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Absent vas deferens
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