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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 51 11 47 53 69 26 38 13 67
Laurence-Moon-Biedl Syndrome 11 69
 
Lnms 47 69

Characteristics:

Orphanet epidemiological data:

53
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

63
laurence-moon syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 245800
Disease Ontology11 DOID:1930
MeSH38 D007849
NCIt44 C34760
Orphanet53 ORPHA2377
MESH via Orphanet39 D007849
UMLS via Orphanet68 C0023138
ICD10 via Orphanet30 Q87.8
MedGen36 C0023138

Summaries for Laurence-Moon Syndrome

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NIH Rare Diseases:47 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 vision/eye and nervous system.

OMIM:51 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...

UniProtKB/Swiss-Prot:69 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Wikipedia:70 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 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:

 63 53 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001161
2 obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001513
3 finger syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0006101
4 abnormality of the antitragus63 53 hallmark (90%) Very frequent (99-80%) HP:0009896
5 cognitive impairment63 hallmark (90%) HP:0100543
6 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
7 renal insufficiency63 53 typical (50%) Frequent (79-30%) HP:0000083
8 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
9 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
10 hypoplasia of penis63 53 typical (50%) Frequent (79-30%) HP:0008736
11 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
12 low-set, posteriorly rotated ears63 53 occasional (7.5%) Occasional (29-5%) HP:0000368
13 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
14 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
15 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
16 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
17 single transverse palmar crease63 occasional (7.5%) HP:0000954
18 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
19 incoordination63 occasional (7.5%) HP:0002311
20 congenital hepatic fibrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002612
21 abnormality of calvarial morphology63 occasional (7.5%) HP:0002648
22 hemiplegia/hemiparesis63 occasional (7.5%) HP:0004374
23 type ii diabetes mellitus63 53 occasional (7.5%) Occasional (29-5%) HP:0005978
24 displacement of the external urethral meatus63 53 occasional (7.5%) Occasional (29-5%) HP:0100627
25 scrotal hypoplasia63 HP:0000046
26 micropenis63 HP:0000054
27 pigmentary retinopathy63 HP:0000580
28 abnormality of the hand63 HP:0001155
29 intellectual disability63 53 Very frequent (99-80%) HP:0001249
30 ataxia63 53 Occasional (29-5%) HP:0001251
31 spastic paraplegia63 HP:0001258
32 brachycephaly53 Occasional (29-5%)
33 malformation of the heart and great vessels53 Occasional (29-5%)
34 bilateral single transverse palmar creases53 Occasional (29-5%)

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

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 Syndrome26

Anatomical Context for Laurence-Moon Syndrome

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MalaCards organs/tissues related to Laurence-Moon Syndrome:

35
Eye, Pituitary, Retina, Heart, Testis

Animal Models for Laurence-Moon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5MKKS, NID1, RPGR, RPGRIP1
2MP:00036318.0MKKS, NID1, PNPLA6, RET, RPGR, RPGRIP1

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:

69
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
1response to stimulusGO:00508969.4RPGR, RPGRIP1
2retina development in camera-type eyeGO:00600419.4RET, RPGRIP1
3cilium assemblyGO:00602719.3MKKS, RPGR
4visual perceptionGO:00076019.0MKKS, RPGR, RPGRIP1

Sources for Laurence-Moon Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet