MCID: LRN001
MIFTS: 36

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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 50 11 46 13 52 68 37 66
Laurence-Moon-Biedl Syndrome 11 68
 
Lnms 46 68

Characteristics:

Orphanet epidemiological data:

52
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

62
laurence-moon syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 245800
Disease Ontology11 DOID:1930
MeSH37 D007849
NCIt43 C34760
Orphanet52 ORPHA2377
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 D007849
UMLS via Orphanet67 C0023138
MedGen35 C0023138

Summaries for Laurence-Moon Syndrome

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NIH Rare Diseases:46 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 bardet-biedl syndrome and oliver-mcfarlane 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 cardiovascular system and nervous system.

UniProtKB/Swiss-Prot:68 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

OMIM:50 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...

Wikipedia:69 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 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

Symptoms:

 52 (show all 24)
  • cryptorchidism
  • renal insufficiency
  • brachycephaly
  • epicanthus
  • low-set, posteriorly rotated ears
  • sensorineural hearing impairment
  • strabismus
  • cataract
  • iris coloboma
  • nystagmus
  • brachydactyly syndrome
  • hand polydactyly
  • intellectual disability
  • ataxia
  • obesity
  • malformation of the heart and great vessels
  • congenital hepatic fibrosis
  • short stature
  • type ii diabetes mellitus
  • finger syndactyly
  • bilateral single transverse palmar creases
  • hypoplasia of penis
  • abnormality of the antitragus
  • displacement of the external urethral meatus

HPO human phenotypes related to Laurence-Moon Syndrome:

(show all 33)
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 congenital hepatic fibrosis occasional (7.5%) HP:0002612
21 abnormality of calvarial morphology occasional (7.5%) HP:0002648
22 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
23 type ii diabetes mellitus occasional (7.5%) HP:0005978
24 displacement of the external urethral meatus occasional (7.5%) HP:0100627
25 scrotal hypoplasia HP:0000046
26 micropenis HP:0000054
27 pigmentary retinopathy HP:0000580
28 nystagmus HP:0000639
29 abnormality of the hand HP:0001155
30 intellectual disability HP:0001249
31 ataxia HP:0001251
32 spastic paraplegia HP:0001258
33 short stature HP:0004322

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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Anatomical Context for Laurence-Moon Syndrome

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MalaCards organs/tissues related to Laurence-Moon Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8MKKS, NID1, PNPLA6, POMC, RET
2MP:00036316.6MKKS, NID1, PNPLA6, POMC, RET, RPGR

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:

68
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, 4-BP INS, 3091AGCCinsertionPathogenic
2PNPLA6PNPLA6, GLY776ARGundetermined variantPathogenic

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:00360649.5MKKS, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:00508969.8RPGR, RPGRIP1
2retina development in camera-type eyeGO:00600419.5RET, RPGRIP1
3visual perceptionGO:00076018.9MKKS, RPGR, RPGRIP1

Sources for Laurence-Moon Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet