MCID: LRN001
MIFTS: 22

Laurence-Moon Syndrome malady

Genetic diseases (common) category

Summaries for Laurence-Moon Syndrome

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Sources:
48OMIM, 34MalaCards
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MalaCards: Laurence-Moon Syndrome is related to bardet-biedl syndrome and hypogonadism. An important gene associated with Laurence-Moon Syndrome is MKKS (McKusick-Kaufman syndrome). The compound serine have been mentioned in the context of this disorder. Affiliated tissues include testis and pituitary, and related mouse phenotype vision/eye.

Description from OMIM:48 245800

Aliases & Classifications for Laurence-Moon Syndrome

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Sources:
9Disease Ontology, 63UMLS, 48OMIM, 41NCIt, 59SNOMED-CT, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

laurence-moon syndrome 9 63


External Ids:

Disease Ontology9 DOID:1930
OMIM48 245800
NCIt41 C34760
MeSH36 D007849

Related Diseases for Laurence-Moon Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Laurence-Moon Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.9PDXP, RPGRIP1, MKKS
2hypogonadism10.5
3rhyns syndrome10.0RPGRIP1, MKKS
4fundus dystrophy10.0RPGRIP1, MKKS
5retinal degeneration9.9RPGRIP1, MKKS

Graphical network of diseases related to Laurence-Moon Syndrome:



Diseases related to laurence-moon syndrome

Symptoms for Laurence-Moon Syndrome

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Sources:
48OMIM
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Clinical features from OMIM:

245800

Drugs & Therapeutics for Laurence-Moon Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Laurence-Moon Syndrome

Genetic Tests for Laurence-Moon Syndrome

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Anatomical Context for Laurence-Moon Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Laurence-Moon Syndrome:

34
Testis, Pituitary

Animal Models for Laurence-Moon Syndrome or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.0RPGRIP1, MKKS

Publications for Laurence-Moon Syndrome

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Sources:
53PubMed
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Articles related to Laurence-Moon Syndrome:

idTitleAuthorsYear
1
Laurence-Moon syndrome? (3339909)
1988
2
The pituitary gland in the Laurence-Moon syndrome. (3821182)
1987
3
Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. (4508225)
1972
4
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. (5835363)
1965
5
HYPOGONADOTROPHIC HYPOGONADISM IN THE LAURENCE-MOON SYNDROME. (14112243)
1964
6
The Laurence-Moon syndrome, a pedigree with uncommon features. (14464057)
1961
7
The Laurence-Moon syndrome with germinal aplasia of the testis: report of a case and review. (14428354)
1960

Variations for Laurence-Moon Syndrome

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Expression for genes affiliated with Laurence-Moon Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Laurence-Moon Syndrome

Search GEO for disease gene expression data for Laurence-Moon Syndrome.

Pathways for genes affiliated with Laurence-Moon Syndrome

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Compounds for genes affiliated with Laurence-Moon Syndrome

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Sources:
46Novoseek
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Compounds related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine469.3PDXP, MKKS

GO Terms for genes affiliated with Laurence-Moon Syndrome

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Sources:
17Gene Ontology
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Biological processes related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.0RPGRIP1, MKKS

Molecular functions related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.5PDXP, RPGRIP1, MKKS

Products for genes affiliated with Laurence-Moon Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Laurence-Moon 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