Young syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONS
BARRY-PERKINS-YOUNG SYNDROME
SINUSITIS-INFERTILITY SYNDROME
Azoospermia - sinopulmonary infections
Number of Symptoms 16
OrphanetNr: 3471
OMIM Id: 279000
ICD-10:
UMLs: C0340037
MeSH: C536718
MedDRA: 10063689
Snomed: 233666007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic respiratory disease
 -Rare genetic disease
Rare pulmonary disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
2
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
3
 (HPO:0000027) Azoospermia 28 / 7739
4
 (HPO:0002837) Recurrent bronchitis 21 / 7739
5
 (HPO:0012090) Abnormality of pancreas morphology Frequent [Orphanet] 31 / 7739
6
 (HPO:0002110) Bronchiectasis 73 / 7739
7
 (HPO:0012387) Bronchitis 8 / 7739
8
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
9
 (HPO:0010959) Congenital cystic adenomatoid malformation of the lung 2 / 7739
10
 (HPO:0005425) Recurrent sinopulmonary infections 10 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Abnormal vasa defferentia 1 / 7739
13
 (OMIM) Normal spermatozoa 1 / 7739
14
 (OMIM) Epididymal obstruction 1 / 7739
15
 (OMIM) Normal cilia on bronchial biopsy 1 / 7739
16
 (OMIM) No sperm antibodies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).
Clinical Description OMIM Young, a urologist, wrote as follows in 1970: 'Recently, I have become aware of a genetic linkage between bronchiectasis, possibly due to congenital cystic disease of the lung, and failure of the vasa deferentia to join together as ...
Molecular genetics OMIM Young syndrome is a cause of male infertility as is also congenital bilateral absence of the vas deferens arising from mutations in the CFTR gene (602421). In general, males with cystic fibrosis (CF; 219700) have absence of the ...