MCID: LRN001
MIFTS: 32

Laurence-Moon Syndrome malady

Summaries for Laurence-Moon Syndrome

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46OMIM, 32MalaCards
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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 RPGR (retinitis pigmentosa GTPase regulator). The compound glutamate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and testis, and related mouse phenotypes are taste/olfaction and vision/eye.

Description from OMIM:46 245800

Aliases & Classifications for Laurence-Moon Syndrome

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8Disease Ontology, 60UMLS, 39NCIt, 46OMIM, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

laurence-moon syndrome 8 60


External Ids:

Disease Ontology8 DOID:1930
NCIt39 C34760
OMIM46 245800
MeSH34 D007849

Related Diseases for Laurence-Moon Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Laurence-Moon Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.9MKKS, BBS2
2hypogonadism10.4
3retinitis pigmentosa 310.0RPGR
4mckusick-kaufman syndrome10.0MKKS
5congenital heart defect10.0MKKS, BBS2
6nephronophthisis10.0RPGRIP1, RPGR
7cone-rod dystrophy 210.0RPGR, RPGRIP1
8retinal disease10.0RPGRIP1, RPGR
9leber congenital amaurosis10.0RPGRIP1, RPGR
10polydactyly10.0MKKS, BBS2
11retinal degeneration10.0RPGR, RPGRIP1, MKKS
12fundus dystrophy10.0MKKS, RPGRIP1, RPGR, BBS2
13rhyns syndrome10.0MKKS, RPGRIP1, RPGR, BBS2

Graphical network of diseases related to Laurence-Moon Syndrome:



Diseases related to laurence-moon syndrome

Clinical Features for Laurence-Moon Syndrome

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46OMIM
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Clinical features from OMIM:

245800

Drugs & Therapeutics for Laurence-Moon Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Laurence-Moon Syndrome

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Anatomical Context for Laurence-Moon Syndrome

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32MalaCards
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MalaCards organs/tissues related to Laurence-Moon Syndrome:

32
Pituitary, Kidney, Testis

Animal Models for Laurence-Moon Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5MKKS, BBS2
2MP:00053917.5MKKS, NID1, RPGRIP1, RPGR, BBS2
3MP:00036317.3BBS2, RPGR, RPGRIP1, NID1, MKKS

Publications for Laurence-Moon Syndrome

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50PubMed
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Articles related to Laurence-Moon Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes. (23638763)
2013
2
Laurence Moon Bardet Biedl syndrome associated with dyslipoproteinaemia. (22480106)
2011
3
Refractive errors and strabismus in children with laurence-moon-biedl syndrome. (20128550)
2010
4
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
5
Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome. (19268021)
2009
6
Recurrent pyocolpos in a Laurence-Moon-Bardet-Biedl syndrome. (18312798)
2008
7
Laurence-Moon-Bardet-Biedl syndrome. (19079403)
2008
8
Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years. (16387083)
2005
9
Choroideremia with polydactyly mimicking the Laurence-Moon-Bardet-Biedl syndrome. (12824850)
2003
10
Laurence-Moon-Biedl syndrome with vaginal atresia. (12477091)
2002
11
Diffuse brainstem glioma in a patient with Laurence-Moon-(Bardet-)Biedl syndrome. (11182644)
2000
12
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
13
Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. (9645236)
1998
14
Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases. (9035169)
1997
15
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
16
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
17
Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome. (9017053)
1996
18
Laurence-Moon-Bardet-Biedl syndrome. (9053416)
1995
19
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome. (8448900)
1993
20
Laurence-Moon-Bardet-Biedl syndrome and polydactyly. (8339081)
1993
21
Renal transplantation in the Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (1798599)
1991
22
Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. (2096358)
1990
23
Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. (2103400)
1990
24
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (2779627)
1989
25
Pituitary hormone reserve in the Laurence-Moon-Bardet-Biedl syndrome. (2606035)
1989
26
Laurence-Moon syndrome? (3339909)
1988
27
Idiopathic thrombocytopenic purpura in a patient with Laurence-Moon-Bardet-Biedl syndrome. (3397311)
1988
28
Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome). (3072750)
1988
29
The pituitary gland in the Laurence-Moon syndrome. (3821182)
1987
30
The Laurence-Moon-Bardet-Biedl syndrome. Case report and endocrinologic evaluation. (3746787)
1986
31
The Laurence-Moon-Bardet-Biedl-syndrome. (3870940)
1985
32
The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism. (428588)
1979
33
Laurence Moon Bardet Biedl syndrome (case report). (511834)
1979
34
Laurence Moon Bardet Biedl syndrome (a typical presentation). (711273)
1978
35
The Laurence-Moon-Bardet-Biedl syndrome. Urographic signs]. (4217117)
1974
36
Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. (4508225)
1972
37
Laurence-Moon-Bardet-Biedl syndrome in Israel. (5505470)
1970
38
Electroretinograms and electroencephalograms in Laurence-Moon-Bardet-Biedl syndrome. (5507738)
1970
39
Pathology of Laurence-Moon-Bardet-Biedl syndrome. (4382110)
1967
40
LAURENCE-MOON-BARDET-BIEDL SYNDROME. REPORT OF 2 CASES IN A FAMILY. (14313697)
1965
41
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. (5835363)
1965
42
HYPOGONADOTROPHIC HYPOGONADISM IN THE LAURENCE-MOON SYNDROME. (14112243)
1964
43
The Laurence-Moon syndrome, a pedigree with uncommon features. (14464057)
1961
44
The Laurence-Moon syndrome with germinal aplasia of the testis: report of a case and review. (14428354)
1960
45
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. (13649370)
1959
46
Laurence-Moon-Bardet-Biedl syndrome; report of 6 cases from northern Sewden. (13509417)
1957
47
Laurence-Moon-Bardet-Biedl syndrome; a family group with three affected siblings. (13359008)
1956
48
The Laurence-Moon-Bardet-Biedl syndrome; report of two cases. (14813819)
1950
49
A case of the Laurence-Moon-Beidl syndrome showing atypical retinitis pigmentosa associated with macular dystrophy. (20293694)
1947
50
A CASE OF THE LAURENCE-MOON-BIEDL SYNDROME SHOWING ATYPICAL RETINITIS PIGMENTOSA ASSOCIATED WITH MACULAR DYSTROPHY. (18170333)
1947

Genetic Variations for Laurence-Moon Syndrome

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Expression for genes affiliated with Laurence-Moon Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Laurence-Moon Syndrome

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Pathways for genes affiliated with Laurence-Moon Syndrome

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Compounds for genes affiliated with Laurence-Moon Syndrome

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44Novoseek
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Compounds related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate448.7NID1, PDXP, RPGR

GO Terms for genes affiliated with Laurence-Moon Syndrome

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16Gene Ontology
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Cellular components related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:0315149.5MKKS, BBS2

Biological processes related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of appetite by leptin-mediated signaling pathwayGO:0381089.8MKKS, BBS2
2regulation of cilium beat frequency involved in ciliary motilityGO:0602969.8MKKS, BBS2
3artery smooth muscle contractionGO:0148249.8BBS2, MKKS
4striatum developmentGO:0217569.8MKKS, BBS2
5brain morphogenesisGO:0488549.8MKKS, BBS2
6melanosome transportGO:0324029.7MKKS, BBS2
7vasodilationGO:0423119.7BBS2, MKKS
8photoreceptor cell maintenanceGO:0454949.7MKKS, BBS2
9eye photoreceptor cell developmentGO:0424629.7RPGR, RPGRIP1
10positive regulation of multicellular organism growthGO:0400189.7MKKS, BBS2
11cerebral cortex developmentGO:0219879.6BBS2, MKKS
12hippocampus developmentGO:0217669.6BBS2, MKKS
13cilium morphogenesisGO:0602719.6BBS2, MKKS
14cilium assemblyGO:0423849.5MKKS, RPGR
15response to stimulusGO:0508969.4RPGRIP1, RPGR
16fat cell differentiationGO:0454449.4MKKS, BBS2
17negative regulation of gene expressionGO:0106299.2MKKS, BBS2
18visual perceptionGO:0076018.8MKKS, RPGRIP1, RPGR, BBS2

Products for genes affiliated with Laurence-Moon Syndrome

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Sources for Laurence-Moon Syndrome

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3CDC
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22GTR
23HGMD
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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