MCID: LRN001
MIFTS: 44

Laurence-Moon Syndrome

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

Aliases & Classifications for Laurence-Moon Syndrome

MalaCards integrated aliases for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 57 12 53 59 75 29 6 44 15 40 73
Lnms 57 53 75
Laurence-Moon-Biedl Syndrome 12 75

Characteristics:

Orphanet epidemiological data:

59
laurence-moon syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)


HPO:

32
laurence-moon syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Laurence-Moon Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Laurence-Moon Syndrome, also known as lnms, is related to oliver-mcfarlane syndrome and bardet-biedl syndrome 2, and has symptoms including ataxia An important gene associated with Laurence-Moon Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). The drugs alpha-MSH and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and retina, and related phenotypes are obesity and finger syndactyly

OMIM : 57 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, 209900) (summary by Hufnagel et al., 2015). Oliver-McFarlane syndrome is an allelic disorder. (245800)

UniProtKB/Swiss-Prot : 75 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Wikipedia : 76 Laurence–Moon syndrome (LMS) is a rare autosomal recessivegenetic disorder associated with retinitis... more...

Related Diseases for Laurence-Moon Syndrome

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



Diseases related to Laurence-Moon Syndrome

Symptoms & Phenotypes for Laurence-Moon Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
pigmentary retinopathy
choroidal atrophy

Growth Height:
short stature

Growth Weight:
no obesity

Neurologic Central Nervous System:
ataxia
spastic paraplegia
mental retardation

Genitourinary External Genitalia Male:
micropenis
hypoplastic scrotum

Skeletal Hands:
no polydactyly


Clinical features from OMIM:

245800

Human phenotypes related to Laurence-Moon Syndrome:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
8 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
11 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
12 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
13 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
14 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
15 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
16 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
17 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
18 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
19 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
20 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
21 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
22 displacement of the external urethral meatus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100627
23 abnormality of the antitragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0009896
24 malformation of the heart and great vessels 59 Occasional (29-5%)
25 abnormality of the hand 32 HP:0001155
26 spastic paraplegia 32 HP:0001258
27 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
28 scrotal hypoplasia 32 HP:0000046
29 micropenis 32 HP:0000054
30 pigmentary retinopathy 32 HP:0000580

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 MKKS NID1 PNPLA6 POMC RET RPGR
2 nervous system MP:0003631 9.17 RPGR RPGRIP1 MKKS NID1 PNPLA6 POMC

Drugs & Therapeutics for Laurence-Moon Syndrome

Drugs for Laurence-Moon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 alpha-MSH Phase 2, Phase 3 581-05-5
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5
Menthol Approved 2216-51-5 16666
6 Liver Extracts
7 insulin
8 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Not yet recruiting NCT03490019 Phase 2 Metformin
3 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
4 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
5 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
6 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
7 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
8 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
9 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
10 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Laurence-Moon Syndrome

Cochrane evidence based reviews: laurence-moon syndrome

Genetic Tests for Laurence-Moon Syndrome

Genetic tests related to Laurence-Moon Syndrome:

# Genetic test Affiliating Genes
1 Laurence-Moon Syndrome 29 PNPLA6

Anatomical Context for Laurence-Moon Syndrome

MalaCards organs/tissues related to Laurence-Moon Syndrome:

41
Eye, Pituitary, Retina, Liver, Heart, Testis

Publications for Laurence-Moon Syndrome

Articles related to Laurence-Moon Syndrome:

# Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Laurence-Moon Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Gly717Arg VAR_073409

ClinVar genetic disease variations for Laurence-Moon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh38 Chromosome 19, 7555728: 7555731
2 PNPLA6 NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs) duplication Pathogenic rs606231167 GRCh37 Chromosome 19, 7620614: 7620617
3 PNPLA6 PNPLA6, GLY776ARG undetermined variant Pathogenic

Expression for Laurence-Moon Syndrome

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

Pathways for Laurence-Moon Syndrome

GO Terms for Laurence-Moon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 8.96 RET RPGRIP1
2 visual perception GO:0007601 8.8 MKKS RPGR RPGRIP1

Sources for Laurence-Moon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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