MCID: YNG002
MIFTS: 26

Young Syndrome malady

Rare diseases, Reproductive diseases, Respiratory diseases categories
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Summaries for Young Syndrome

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NIH Rare Diseases:42 Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and 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, resulting in nonexistent levels of sperm in semen) . the condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. although the exact cause has not been identified, it is believed to be a genetic condition. at this time, there is no known effective treatment or cure for young syndrome. last updated: 6/24/2009

MalaCards based summary: Young Syndrome, also known as sinusitis-infertility syndrome, is related to upton young syndrome and sinusitis, and has symptoms including repeat respiratory infections, structural anomalies of the genital system and sterility/hypofertility. An important gene associated with Young Syndrome is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)). Affiliated tissues include lung and pancreas.

Wikipedia:65 Young\'s syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome... more...

Description from OMIM:46 279000

Aliases & Classifications for Young Syndrome

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Young Syndrome, Aliases & Descriptions:

Name: Young Syndrome 42 44 48 46 62
Sinusitis-Infertility Syndrome 42 62
Azoospermia Obstructive and Chronic Sinopulmonary Infections 42
 
Azoospermia - Sinopulmonary Infections 48
Barry Perkins Young Syndrome 42
Barry-Perkins-Young Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Reproductive diseases, Respiratory diseases


Characteristics (Orphanet epidemiological data):

48
young syndrome:
Inheritance: Autosomal recessive; Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 279000
MESH via Orphanet35 C536718
UMLS via Orphanet63 C0340037

Related Diseases for Young Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1upton young syndrome10.2
2sinusitis10.2
3infertility10.2
4stratton-garcia-young syndrome10.2
5polydactyly9.8
6microcephaly9.8
7brachydactyly - mesomelia - intellectual disability - heart defects9.8

Graphical network of diseases related to Young Syndrome:



Diseases related to young syndrome

Symptoms for Young Syndrome

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Symptoms by clinical synopsis from OMIM:

279000

Clinical features from OMIM:

279000

Symptoms:

48
  • repeat respiratory infections
  • structural anomalies of the genital system
  • sterility/hypofertility
  • autosomal recessive inheritance
  • structural anomalies of the pancreas

HPO human phenotypes related to Young Syndrome:

(show all 9)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 recurrent respiratory infections hallmark (90%) HP:0002205
3 abnormality of the pancreas typical (50%) HP:0001732
4 autosomal recessive inheritance HP:0000007
5 azoospermia HP:0000027
6 bronchiectasis HP:0002110
7 recurrent bronchitis HP:0002837
8 recurrent sinopulmonary infections HP:0005425
9 congenital cystic adenomatoid malformation of the lung HP:0010959

Drugs & Therapeutics for Young Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Young Syndrome

Genetic Tests for Young Syndrome

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Anatomical Context for Young Syndrome

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MalaCards organs/tissues related to Young Syndrome:

32
Lung, Pancreas

Animal Models for Young Syndrome or affiliated genes

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Publications for Young Syndrome

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Articles related to Young Syndrome:

idTitleAuthorsYear
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

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Expression for genes affiliated with Young Syndrome

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Expression patterns in normal tissues for genes affiliated with Young Syndrome

Search GEO for disease gene expression data for Young Syndrome.

Pathways for genes affiliated with Young Syndrome

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Compounds for genes affiliated with Young Syndrome

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GO Terms for genes affiliated with Young Syndrome

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Products for genes affiliated with Young Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Young Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet