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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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Young Syndrome, also known as azoospermia obstructive and chronic sinopulmonary infections, is related to upton young syndrome and infertility, and has symptoms including autosomal recessive inheritance, repeat respiratory infections and structural anomalies of the pancreas. 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:47 279000

Aliases & Classifications for Young Syndrome

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
young syndrome:
Inheritance: Autosomal recessive; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

young syndrome 43 45 49 47 62
azoospermia obstructive and chronic sinopulmonary infections 43
azoospermia - sinopulmonary infections 49
sinusitis-infertility syndrome 43
barry perkins young syndrome 43


External Ids:

OMIM47 279000
MESH via Orphanet36 C536718
SNOMED-CT via Orphanet59 233666007
UMLS via Orphanet63 C0340037

Related Diseases for Young Syndrome

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17GeneCards, 18GeneDecks
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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
2infertility10.2
3sinusitis10.2
4stratton-garcia-young syndrome10.1
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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

279000

Clinical features from OMIM:

279000

Symptoms:

49
  • autosomal recessive inheritance
  • repeat respiratory infections
  • structural anomalies of the pancreas
  • sterility/hypofertility
  • structural anomalies of the genital system

Drugs & Therapeutics for Young Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Young Syndrome:

33
Lung, Pancreas

Animal Models for Young Syndrome or affiliated genes

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Publications for Young Syndrome

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Sources:
52PubMed
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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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Young Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet