MCID: LRN001
MIFTS: 40

Laurence-Moon Syndrome malady

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

Aliases & Classifications for Laurence-Moon Syndrome

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Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 49 10 45 12 51 65 36 67
Lnms 45 67
 
Laurence-Moon-Biedl Syndrome 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal


External Ids:

OMIM49 245800
Disease Ontology10 DOID:1930
MeSH36 D007849
NCIt42 C34760
Orphanet51 2377
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D007849
UMLS via Orphanet66 C0023138
MedGen34 C0023138

Summaries for Laurence-Moon Syndrome

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NIH Rare Diseases:45 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 lnms, 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), and among its related pathways is Cell adhesion_ECM remodeling. Affiliated tissues include eye, pituitary and retina, and related mouse phenotypes are cardiovascular system and nervous system.

OMIM:49 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...

UniProtKB/Swiss-Prot:67 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

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

Symptoms:

 51 (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 35)
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
26 autosomal recessive inheritance HP:0000007
27 scrotal hypoplasia HP:0000046
28 micropenis HP:0000054
29 pigmentary retinopathy HP:0000580
30 nystagmus HP:0000639
31 abnormality of the hand HP:0001155
32 intellectual disability HP:0001249
33 ataxia HP:0001251
34 spastic paraplegia HP:0001258
35 short stature HP:0004322

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:

33
Eye, Pituitary, Retina, Testes, Heart, Testis

Animal Models for Laurence-Moon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.4FN1, MKKS, NID1, PNPLA6, POMC, RET
2MP:00036316.6FN1, MKKS, NID1, PNPLA6, POMC, RET

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:

67
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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Pathways related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FN1, NID1

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
1basal laminaGO:00056059.9FN1, NID1
2photoreceptor connecting ciliumGO:00323919.7RPGR, RPGRIP1
3ciliary basal bodyGO:00360649.6MKKS, RPGR
4basement membraneGO:00056049.4FN1, NID1

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

idNameGO IDScoreTop Affiliating Genes
1eye photoreceptor cell developmentGO:004246210.0RPGR, RPGRIP1
2retina development in camera-type eyeGO:00600419.9RET, RPGRIP1
3visual perceptionGO:00076019.3MKKS, RPGR, RPGRIP1

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.4FN1, NID1

Sources for Laurence-Moon Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet