MCID: LRN001
MIFTS: 28

Laurence-Moon Syndrome malady

Summaries for Laurence-Moon Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Laurence-Moon Syndrome is related to bardet-biedl syndrome and retinitis pigmentosa 3. 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 kidney, testis and pituitary, and related mouse phenotypes are taste/olfaction and vision/eye.

Description from OMIM:47 245800

Aliases & Classifications for Laurence-Moon Syndrome

Sources:
8Disease Ontology, 61UMLS, 40NCIt, 47OMIM, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

laurence-moon syndrome 8 61


External Ids:

Disease Ontology8 DOID:1930
NCIt40 C34760
OMIM47 245800
MeSH35 D007849

Related Diseases for Laurence-Moon Syndrome

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome31.0MKKS, BBS2
2retinitis pigmentosa 310.0RPGR
3mckusick-kaufman syndrome10.0MKKS
4congenital heart defect10.0MKKS, BBS2
5nephronophthisis10.0RPGRIP1, RPGR
6cone-rod dystrophy 210.0RPGR, RPGRIP1
7retinal disease10.0RPGRIP1, RPGR
8leber congenital amaurosis10.0RPGRIP1, RPGR
9polydactyly10.0MKKS, BBS2
10retinal degeneration10.0RPGR, RPGRIP1, MKKS
11fundus dystrophy10.0MKKS, RPGRIP1, RPGR, BBS2
12rhyns 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

Sources:
47OMIM
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Clinical features from OMIM:

245800

Drugs & Therapeutics for Laurence-Moon Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Laurence-Moon Syndrome

Drug clinical trials:

Search ClinicalTrials for Laurence-Moon Syndrome

Search NIH Clinical Center for Laurence-Moon Syndrome

Search CenterWatch for Laurence-Moon Syndrome

Genetic Tests for Laurence-Moon Syndrome

Anatomical Context for Laurence-Moon Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Laurence-Moon Syndrome:

33
Kidney, Testis, Pituitary

Animal Models for Laurence-Moon Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

37
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

Sources:
51PubMed
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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
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
12
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
13
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
14
Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome. (9017053)
1996
15
Laurence-Moon-Bardet-Biedl syndrome. (9053416)
1995
16
Laurence-Moon-Bardet-Biedl syndrome in combination with Cotard's syndrome. Case report. (8641859)
1995
17
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome. (8448900)
1993
18
Renal transplantation in the Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (1798599)
1991
19
Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. (2096358)
1990
20
Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. (2103400)
1990
21
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (2779627)
1989
22
Pituitary hormone reserve in the Laurence-Moon-Bardet-Biedl syndrome. (2606035)
1989
23
Laurence-Moon syndrome? (3339909)
1988
24
Idiopathic thrombocytopenic purpura in a patient with Laurence-Moon-Bardet-Biedl syndrome. (3397311)
1988
25
Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome). (3072750)
1988
26
The pituitary gland in the Laurence-Moon syndrome. (3821182)
1987
27
Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. (2837047)
1987
28
The Laurence-Moon-Bardet-Biedl syndrome. Case report and endocrinologic evaluation. (3746787)
1986
29
The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism. (428588)
1979
30
Laurence Moon Bardet Biedl syndrome (case report). (511834)
1979
31
Laurence Moon Bardet Biedl syndrome (a typical presentation). (711273)
1978
32
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977
33
The Laurence-Moon-Bardet-Biedl syndrome. Urographic signs]. (4217117)
1974
34
Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. (4508225)
1972
35
Laurence-Moon-Bardet-Biedl syndrome with Stargardt's juvenile macular degeneration. Clinical and pathological study. (5580175)
1971
36
Laurence-Moon-Bardet-Biedl syndrome in Israel. (5505470)
1970
37
Electroretinograms and electroencephalograms in Laurence-Moon-Bardet-Biedl syndrome. (5507738)
1970
38
The Laurence-Moon-Bardet-Biedl syndrome. (6079017)
1967
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: review of the literature and a report of five cases including a family group with three affected males. (13801723)
1959
47
Laurence-Moon-Bardet-Biedl syndrome; report of 6 cases from northern Sewden. (13509417)
1957
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

Expression for genes affiliated with Laurence-Moon Syndrome

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Laurence-Moon Syndrome

Sources:
45Novoseek
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Compounds related to Laurence-Moon Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate458.7NID1, PDXP, RPGR

GO Terms for genes affiliated with Laurence-Moon Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet