MCID: YNG002
MIFTS: 26

Young Syndrome

Categories: Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Young Syndrome

MalaCards integrated aliases for Young Syndrome:

Name: Young Syndrome 57 73 20 58 54 70
Azoospermia-Sinopulmonary Infections Syndrome 20 58
Sinusitis-Infertility Syndrome 57 20
Azoospermia, Obstructive, and Chronic Sinopulmonary Infections 57
Azoospermia Obstructive and Chronic Sinopulmonary Infections 20
Barry-Perkins-Young Syndrome 57
Barry Perkins Young Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
young syndrome
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

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


HPO:

31
young syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare respiratory diseases


External Ids:

OMIM® 57 279000
MESH via Orphanet 45 C536718
ICD10 via Orphanet 33 N46
UMLS via Orphanet 71 C0340037
Orphanet 58 ORPHA3471
MedGen 41 C0340037
UMLS 70 C0340037

Summaries for Young Syndrome

GARD : 20 Young syndrome is a condition characterized by male infertility, damaged airways in the lungs ( bronchiectasis ), and inflammation of the sinuses ( sinusitis ). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the epididymis (tube through which sperm exit the testis ). This results in nonexistent levels of sperm in semen. Young syndrome is typically diagnosed in middle-aged men who undergo evaluation for infertility. As the signs and symptoms of Young syndrome are similar to cystic fibrosis (CF), part of the diagnosis process may include ruling out CF. Although the exact cause of Young syndrome has not been identified, it is believed to either be related to childhood exposure to mercury or genetic factors. While there is no one treatment for Young syndrome, management involves treatment of sinus and lung infections. Fertility treatment may also be an option, including surgery to remove the obstruction in the epididymis (vasoepididymostomy) or assisted reproduction, such as intracytoplasmic sperm injection (ICSI).

MalaCards based summary : Young Syndrome, also known as azoospermia-sinopulmonary infections syndrome, is related to brachydactyly-mesomelia-intellectual disability-heart defects syndrome and azoospermia. An important gene associated with Young Syndrome is CFTR (CF Transmembrane Conductance Regulator). Affiliated tissues include testis, lung and pancreas, and related phenotypes are decreased fertility and recurrent sinopulmonary infections

OMIM® : 57 Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984). (279000) (Updated 05-Apr-2021)

Wikipedia : 73 Young's syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and... more...

Related Diseases for Young Syndrome

Diseases related to Young Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.1
2 azoospermia 9.8
3 primary ciliary dyskinesia 9.7
4 cystic fibrosis 9.6
5 vas deferens, congenital bilateral aplasia of 9.6
6 polydactyly 9.6
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.6
8 microcephaly 9.6
9 infertility 9.6
10 cystic fibrosis and congenital absence of the vas deferens 9.6

Graphical network of the top 20 diseases related to Young Syndrome:



Diseases related to Young Syndrome

Symptoms & Phenotypes for Young Syndrome

Human phenotypes related to Young Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
2 recurrent sinopulmonary infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005425
3 recurrent bronchitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002837
4 obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011962
5 abnormality of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0001732
6 azoospermia 31 HP:0000027
7 bronchiectasis 31 HP:0002110
8 congenital cystic adenomatoid malformation of the lung 31 HP:0010959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
abnormal vasa deferentia
epididymal obstruction
no sperm antibodies
normal spermatozoa

Respiratory Lung:
bronchiectasis
bronchitis
congenital cystic disease of the lung
chronic sinopulmonary infection
normal cilia on bronchial biopsy

Clinical features from OMIM®:

279000 (Updated 05-Apr-2021)

Drugs & Therapeutics for Young Syndrome

Search Clinical Trials , NIH Clinical Center for Young Syndrome

Genetic Tests for Young Syndrome

Anatomical Context for Young Syndrome

MalaCards organs/tissues related to Young Syndrome:

40
Testis, Lung, Pancreas, Kidney

Publications for Young Syndrome

Articles related to Young Syndrome:

(show all 21)
# Title Authors PMID Year
1
Screening Young syndrome patients for CFTR mutations. 54 61 57
7551394 1995
2
Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach. 57
7539448 1995
3
Young's syndrome and cystic fibrosis mutation delta F508. 57
8100886 1993
4
Young's syndrome: an often unrecognized correctable cause of obstructive azoospermia. 57
3586166 1987
5
Young's syndrome. 57
3817066 1987
6
Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. 57
6689737 1984
7
Obstructive azoospermia: respiratory function tests, electron microscopy and the results of surgery. 57
753515 1978
8
Surgical treatment of male infertility. 57
5497459 1970
9
Genetic diseases of the seminal ducts. 54 61
9755815 1998
10
Pediatric Acute Kidney Injury: The Young Syndrome Has Grown Up. 61
31899754 2020
11
The sinusitis-infertility syndrome: Young's saint, old devil. 61
20190337 2010
12
The combination of Young's syndrome and small cell lung cancer-A spiky connection? 61
19954857 2010
13
Tuberculosis, bronchiectasis, and infertility: what ailed George Orwell? 61
16267732 2005
14
Diagnostic value of differential quantification of spermatids in obstructive azoospermia. 61
12954664 2003
15
[Clinical features and ultrastructure of primary ciliary dyskinesia and Young syndrome]. 61
9213847 1997
16
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. 54
9147111 1996
17
Epidemiology of nasal polyps. 61
8922141 1996
18
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. 61
1472358 1992
19
[The Kartagener-Young syndrome]. 61
3877945 1985
20
[Young syndrome. Chronic sino-pulmonary infection and infertility]. 61
6729422 1984
21
[Prediabetes (Young syndrome)]. 61
13707397 1961

Variations for Young Syndrome

Expression for Young Syndrome

Search GEO for disease gene expression data for Young Syndrome.

Pathways for Young Syndrome

GO Terms for Young Syndrome

Sources for Young Syndrome

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
Content
Loading form....