MCID: LRN001
MIFTS: 30

Laurence-Moon Syndrome malady

Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

Summaries for Laurence-Moon Syndrome

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Wikipedia:63 Laurence?Moon syndrome (LMS) is a rare autosomal recessivegenetic disorder associated with retinitis... more...

MalaCards based summary: Laurence-Moon Syndrome is related to bardet-biedl syndrome and hypogonadism, and has symptoms including hand polydactyly, obesity and finger syndactyly. 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 testes, eye and heart, and related mouse phenotype vision/eye.

Aliases & Classifications for Laurence-Moon Syndrome

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Sources:
9Disease Ontology, 11DISEASES, 47Orphanet, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Laurence-Moon Syndrome, Aliases & Descriptions:

Name: Laurence-Moon Syndrome 9 11 47 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal


External Ids:

Disease Ontology9 DOID:1930
MeSH33 D007849
NCIt38 C34760
Orphanet47 2377
MESH via Orphanet34 D007849
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0023138

Related Diseases for Laurence-Moon Syndrome

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Diseases related to Laurence-Moon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome10.6
2hypogonadism10.5
3vocal cord dysfunction familial10.5
4retinitis pigmentosa autosomal recessive9.9RPGRIP1, MKKS
5fundus dystrophy9.8RPGRIP1, MKKS
6retinal degeneration9.7RPGRIP1, 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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Symptoms:

 47 (show all 26)
  • antitragus abnormal
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • generalized obesity
  • sensorineural deafness/hearing loss
  • renal failure
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • coloboma of iris
  • cataract/lens opacification
  • strabismus/squint
  • nystagmus
  • epicanthic folds
  • low set ears/posteriorly rotated ears
  • short hand/brachydactyly
  • simian crease/transverse/unique palmar crease
  • congenital hepatic fibrosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypospadias/epispadias/bent penis
  • insulin-independent/type 2 diabetes
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy

HPO human phenotypes related to Laurence-Moon Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 hand polydactyly hallmark (90%) HP:0001161
2 obesity hallmark (90%) HP:0001513
3 finger syndactyly hallmark (90%) HP:0006101
4 abnormality of the antitragus hallmark (90%) HP:0009896
5 cognitive impairment hallmark (90%) HP:0100543
6 cryptorchidism typical (50%) HP:0000028
7 renal insufficiency typical (50%) HP:0000083
8 sensorineural hearing impairment typical (50%) HP:0000407
9 short stature typical (50%) HP:0004322
10 hypoplasia of penis typical (50%) HP:0008736
11 epicanthus occasional (7.5%) HP:0000286
12 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
13 strabismus occasional (7.5%) HP:0000486
14 cataract occasional (7.5%) HP:0000518
15 iris coloboma occasional (7.5%) HP:0000612
16 nystagmus occasional (7.5%) HP:0000639
17 single transverse palmar crease occasional (7.5%) HP:0000954
18 brachydactyly syndrome occasional (7.5%) HP:0001156
19 incoordination occasional (7.5%) HP:0002311
20 malformation of the heart and great vessels occasional (7.5%) HP:0002564
21 congenital hepatic fibrosis occasional (7.5%) HP:0002612
22 abnormality of calvarial morphology occasional (7.5%) HP:0002648
23 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
24 type ii diabetes mellitus occasional (7.5%) HP:0005978
25 displacement of the external urethral meatus occasional (7.5%) HP:0100627

Drugs & Therapeutics for Laurence-Moon Syndrome

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Drug clinical trials:

Search ClinicalTrials for Laurence-Moon Syndrome

Search NIH Clinical Center for Laurence-Moon Syndrome

Genetic Tests for Laurence-Moon Syndrome

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Anatomical Context for Laurence-Moon Syndrome

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MalaCards organs/tissues related to Laurence-Moon Syndrome:

31
Testes, Eye, Heart, Testis, Pituitary

Animal Models for Laurence-Moon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.0RPGRIP1, MKKS

Publications for Laurence-Moon Syndrome

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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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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:
43Novoseek
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Compounds related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1serine439.3PDXP, MKKS

GO Terms for genes affiliated with Laurence-Moon Syndrome

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Biological processes related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.0RPGRIP1, MKKS

Molecular functions related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.5PDXP, RPGRIP1, MKKS

Products for genes affiliated with Laurence-Moon Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Laurence-Moon Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet