MCID: YNG002
MIFTS: 26

Young Syndrome malady

Rare diseases, Reproductive diseases, Respiratory diseases categories

Summaries for Young Syndrome

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Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:66 Young\'s syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome... more...

Description from OMIM:48 279000

Aliases & Classifications for Young Syndrome

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Sources:
44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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):

50
young syndrome:
Inheritance: Autosomal recessive; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

young syndrome 44 46 50 48 63
azoospermia obstructive and chronic sinopulmonary infections 44
azoospermia - sinopulmonary infections 50
sinusitis-infertility syndrome 44
barry perkins young syndrome 44


External Ids:

OMIM48 279000
MESH via Orphanet37 C536718
SNOMED-CT via Orphanet60 233666007
UMLS via Orphanet64 C0340037

Related Diseases for Young Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

279000

Clinical features from OMIM:

279000

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Young Syndrome

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Anatomical Context for Young Syndrome

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34MalaCards
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MalaCards organs/tissues related to Young Syndrome:

34
Lung, Pancreas

Animal Models for Young Syndrome or affiliated genes

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Publications for Young Syndrome

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Sources:
53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Young Syndrome

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet