Aliases & Classifications for Young Syndrome

MalaCards integrated aliases for Young Syndrome:

Name: Young Syndrome 57 76 53 55 73
Sinusitis-Infertility Syndrome 57 53
Azoospermia, Obstructive, and Chronic Sinopulmonary Infections 57
Azoospermia Obstructive and Chronic Sinopulmonary Infections 53
Azoospermia-Sinopulmonary Infections Syndrome 53
Barry-Perkins-Young Syndrome 57
Barry Perkins Young Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
young syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 279000
MedGen 42 C0340037
UMLS 73 C0340037

Summaries for Young Syndrome

NIH Rare Diseases : 53 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).

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. An important gene associated with Young Syndrome is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Affiliated tissues include lung, testis and pancreas, and related phenotypes are abnormality of the pancreas and decreased fertility

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

Wikipedia : 76 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:

57
Respiratory Lung:
bronchiectasis
congenital cystic disease of the lung
bronchitis
chronic sinopulmonary infection
normal cilia on bronchial biopsy

GenitourinaryInternal GenitaliaMale:
abnormal vasa deferentia
epididymal obstruction
azoospermia
no sperm antibodies
normal spermatozoa


Clinical features from OMIM:

279000

Human phenotypes related to Young Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of the pancreas 32 frequent (33%) HP:0001732
2 decreased fertility 32 hallmark (90%) HP:0000144
3 azoospermia 32 HP:0000027
4 bronchiectasis 32 HP:0002110
5 obstructive azoospermia 32 hallmark (90%) HP:0011962
6 recurrent sinopulmonary infections 32 hallmark (90%) HP:0005425
7 recurrent bronchitis 32 hallmark (90%) HP:0002837
8 congenital cystic adenomatoid malformation of the lung 32 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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