MCID: LRN001
MIFTS: 37

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

About this section
Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Laurence-Moon Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
laurence-moon syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



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
UMLS65 C0023138

Summaries for Laurence-Moon Syndrome

About this section
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 laurence-moon-biedl syndrome, is related to oliver-mcfarlane syndrome and bardet-biedl syndrome, and has symptoms including cognitive impairment, abnormality of the antitragus 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 cellular.

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.

Wikipedia:68 Laurence–Moon syndrome (LMS) is a rare autosomal recessivegenetic disorder associated with retinitis... more...

Related Diseases for Laurence-Moon Syndrome

About this section

Graphical network of diseases related to Laurence-Moon Syndrome:



Diseases related to laurence-moon syndrome

Symptoms for Laurence-Moon Syndrome

About this section

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 33)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of the antitragus hallmark (90%) HP:0009896
3 finger syndactyly hallmark (90%) HP:0006101
4 obesity hallmark (90%) HP:0001513
5 hand polydactyly hallmark (90%) HP:0001161
6 hypoplasia of penis typical (50%) HP:0008736
7 short stature typical (50%) HP:0004322
8 sensorineural hearing impairment typical (50%) HP:0000407
9 renal insufficiency typical (50%) HP:0000083
10 cryptorchidism typical (50%) HP:0000028
11 displacement of the external urethral meatus occasional (7.5%) HP:0100627
12 type ii diabetes mellitus occasional (7.5%) HP:0005978
13 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
14 abnormality of calvarial morphology occasional (7.5%) HP:0002648
15 congenital hepatic fibrosis occasional (7.5%) HP:0002612
16 incoordination occasional (7.5%) HP:0002311
17 brachydactyly syndrome occasional (7.5%) HP:0001156
18 single transverse palmar crease occasional (7.5%) HP:0000954
19 nystagmus occasional (7.5%) HP:0000639
20 iris coloboma occasional (7.5%) HP:0000612
21 cataract occasional (7.5%) HP:0000518
22 strabismus occasional (7.5%) HP:0000486
23 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
24 epicanthus occasional (7.5%) HP:0000286
25 short stature HP:0004322
26 spastic paraplegia HP:0001258
27 ataxia HP:0001251
28 intellectual disability HP:0001249
29 abnormality of the hand HP:0001155
30 nystagmus HP:0000639
31 pigmentary retinopathy HP:0000580
32 micropenis HP:0000054
33 scrotal hypoplasia HP:0000046

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

Drugs & Therapeutics for Laurence-Moon Syndrome

About this section

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

About this section

Anatomical Context for Laurence-Moon Syndrome

About this section

MalaCards organs/tissues related to Laurence-Moon Syndrome:

33
Eye, Pituitary, Retina, Testes, Thyroid, Monocytes, T cells

Animal Models for Laurence-Moon Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.4FN1, MKKS, NID1, PNPLA6, POMC, RET
2MP:00053847.3FN1, MKKS, NID1, PNPLA6, POMC, RET
3MP:00036316.6FN1, MKKS, NID1, PNPLA6, POMC, RET

Publications for Laurence-Moon Syndrome

About this section

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

About this section

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

About this section
Search GEO for disease gene expression data for Laurence-Moon Syndrome.

Pathways for genes affiliated with Laurence-Moon Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.4FN1, NID1

GO Terms for genes affiliated with Laurence-Moon Syndrome

About this section

Sources for Laurence-Moon Syndrome

About this section
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