Aliases & Classifications for Young Syndrome

MalaCards integrated aliases for Young Syndrome:

Name: Young Syndrome 53 72 49 51 69
Sinusitis-Infertility Syndrome 53 49
Azoospermia, Obstructive, and Chronic Sinopulmonary Infections 53
Azoospermia Obstructive and Chronic Sinopulmonary Infections 49
Azoospermia-Sinopulmonary Infections Syndrome 49
Barry-Perkins-Young Syndrome 53
Barry Perkins Young Syndrome 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
young syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 279000
MedGen 39 C0340037
UMLS 69 C0340037

Summaries for Young Syndrome

NIH Rare Diseases : 49 Young syndromeis 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). Last updated: 10/4/2016

MalaCards based summary : Young Syndrome, also known as sinusitis-infertility syndrome, is related to brachydactyly-mesomelia-intellectual disability-heart defects syndrome and renal cysts and diabetes syndrome, and has symptoms including abnormality of the pancreas, decreased fertility and azoospermia. An important gene associated with Young Syndrome is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Affiliated tissues include lung, testis and pancreas.

OMIM : 53 Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984). (279000)

Wikipedia : 72 Young\'s syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome... 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 10.9
2 renal cysts and diabetes syndrome 10.8
3 sinusitis 9.9
4 infertility 9.9
5 polydactyly 9.2
6 microcephaly 9.2

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



Diseases related to Young Syndrome

Symptoms & Phenotypes for Young Syndrome

Symptoms via clinical synopsis from OMIM:

53
Respiratory Lung:
bronchiectasis
congenital cystic disease of the lung
bronchitis
chronic sinopulmonary infection
normal cilia on bronchial biopsy

Genitourinary Internal Genitalia Male:
abnormal vasa deferentia
epididymal obstruction
azoospermia
no sperm antibodies
normal spermatozoa


Clinical features from OMIM:

279000

Human phenotypes related to Young Syndrome:

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

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:

38
Lung, Testis, Pancreas

Publications for Young Syndrome

Articles related to Young Syndrome:

# Title Authors Year
1
Screening Young syndrome patients for CFTR mutations. ( 7551394 )
1995
2
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. ( 1472358 )
1992

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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