MCID: LRN001
MIFTS: 38

Laurence-Moon Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Laurence-Moon Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 52 11 48 54 70 27 39 13 68
Laurence-Moon-Biedl Syndrome 11 70
 
Lnms 48 70

Characteristics:

Orphanet epidemiological data:

54
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

64
laurence-moon syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 245800
Disease Ontology11 DOID:1930
MeSH39 D007849
NCIt45 C34760
Orphanet54 ORPHA2377
MESH via Orphanet40 D007849
UMLS via Orphanet69 C0023138
ICD10 via Orphanet31 Q87.8
MedGen37 C0023138

Summaries for Laurence-Moon Syndrome

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NIH Rare Diseases:48 Laurence-Moon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms vary but may include cerebellar ataxia; eye abnormalities (primarily affecting the choroid and retina); peripheral neuropathy; spastic paraplegia (progressive weakness and stiffness of the legs); intellectual disability; congenital (from birth) or childhood hypopituitarism; and short stature. Laurence-Moon syndrome is caused by changes (mutations) in the PNPLA6 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Until recently, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome but newer research determined that they are separate conditions. Last updated: 6/18/2015

MalaCards based summary: Laurence-Moon Syndrome, also known as laurence-moon-biedl syndrome, is related to oliver-mcfarlane syndrome and bardet-biedl syndrome, and has symptoms including hand polydactyly, obesity and finger syndactyly. An important gene associated with Laurence-Moon Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include eye, pituitary and retina, and related mouse phenotypes are Increased mitotic index and vision/eye.

OMIM:52 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...

UniProtKB/Swiss-Prot:70 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Wikipedia:71 Laurence–Moon syndrome (LMS) is a rare autosomal recessivegenetic disorder associated with retinitis... more...

Related Diseases for Laurence-Moon Syndrome

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Graphical network of the top 20 diseases related to Laurence-Moon Syndrome:



Diseases related to laurence-moon syndrome

Symptoms & Phenotypes for Laurence-Moon Syndrome

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Symptoms by clinical synopsis from OMIM:

245800

Clinical features from OMIM:

245800

Human phenotypes related to Laurence-Moon Syndrome:

 64 54 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001161
2 obesity64 54 hallmark (90%) Very frequent (99-80%) HP:0001513
3 finger syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0006101
4 abnormality of the antitragus64 54 hallmark (90%) Very frequent (99-80%) HP:0009896
5 cognitive impairment64 hallmark (90%) HP:0100543
6 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
7 renal insufficiency64 54 typical (50%) Frequent (79-30%) HP:0000083
8 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
9 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
10 hypoplasia of penis64 54 typical (50%) Frequent (79-30%) HP:0008736
11 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
12 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
13 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
14 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
15 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
16 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
17 single transverse palmar crease64 occasional (7.5%) HP:0000954
18 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
19 incoordination64 occasional (7.5%) HP:0002311
20 congenital hepatic fibrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002612
21 abnormality of calvarial morphology64 occasional (7.5%) HP:0002648
22 hemiplegia/hemiparesis64 occasional (7.5%) HP:0004374
23 type ii diabetes mellitus64 54 occasional (7.5%) Occasional (29-5%) HP:0005978
24 displacement of the external urethral meatus64 54 occasional (7.5%) Occasional (29-5%) HP:0100627
25 scrotal hypoplasia64 HP:0000046
26 micropenis64 HP:0000054
27 pigmentary retinopathy64 HP:0000580
28 abnormality of the hand64 HP:0001155
29 intellectual disability64 54 Very frequent (99-80%) HP:0001249
30 ataxia64 54 Occasional (29-5%) HP:0001251
31 spastic paraplegia64 HP:0001258
32 brachycephaly54 Occasional (29-5%)
33 malformation of the heart and great vessels54 Occasional (29-5%)
34 bilateral single transverse palmar creases54 Occasional (29-5%)

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

GenomeRNAi Phenotypes related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00110-A-010.0RET, RPGRIP1

MGI Mouse Phenotypes related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5MKKS, NID1, RPGR, RPGRIP1
2MP:00036318.0MKKS, NID1, PNPLA6, RET, RPGR, RPGRIP1

Drugs & Therapeutics for Laurence-Moon Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Laurence-Moon Syndrome


Cochrane evidence based reviews: laurence-moon syndrome

Genetic Tests for Laurence-Moon Syndrome

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Genetic tests related to Laurence-Moon Syndrome:

id Genetic test Affiliating Genes
1 Laurence-Moon Syndrome27

Anatomical Context for Laurence-Moon Syndrome

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MalaCards organs/tissues related to Laurence-Moon Syndrome:

36
Eye, Pituitary, Retina, Heart, Testis

Publications for Laurence-Moon Syndrome

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Articles related to Laurence-Moon Syndrome:

idTitleAuthorsYear
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. (25480986)
2015
2
Laurence-Moon syndrome? (3339909)
1988
3
The pituitary gland in the Laurence-Moon syndrome. (3821182)
1987
4
Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. (4508225)
1972
5
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. (5835363)
1965
6
HYPOGONADOTROPHIC HYPOGONADISM IN THE LAURENCE-MOON SYNDROME. (14112243)
1964
7
The Laurence-Moon syndrome, a pedigree with uncommon features. (14464057)
1961
8
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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UniProtKB/Swiss-Prot genetic disease variations for Laurence-Moon Syndrome:

70
id Symbol AA change Variation ID SNP ID
1PNPLA6p.Gly717ArgVAR_073409

Clinvar genetic disease variations for Laurence-Moon Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PNPLA6PNPLA6, GLY776ARGundetermined variantPathogenicChr na, -1: -1
2PNPLA6NM_001166113.1(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs)duplicationPathogenicrs606231167GRCh38Chr 19, 7555728: 7555731

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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GO Terms for genes affiliated with Laurence-Moon Syndrome

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Cellular components related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary basal bodyGO:00360649.4MKKS, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1cilium assemblyGO:006027110.1MKKS, RPGR
2response to stimulusGO:005089610.1RPGR, RPGRIP1
3retina development in camera-type eyeGO:00600419.8RET, RPGRIP1
4visual perceptionGO:00076019.0MKKS, RPGR, RPGRIP1

Sources for Laurence-Moon Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet