LNMS
MCID: LRN001
MIFTS: 45

Laurence-Moon Syndrome (LNMS)

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

Aliases & Classifications for Laurence-Moon Syndrome

MalaCards integrated aliases for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 56 12 52 58 73 36 29 6 43 15 39 71
Lnms 56 12 52 73
Laurence-Moon-Biedl Syndrome 12 73

Characteristics:

Orphanet epidemiological data:

58
laurence-moon syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
laurence-moon syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1930
OMIM 56 245800
KEGG 36 H02137
MeSH 43 D007849
NCIt 49 C34760
SNOMED-CT 67 232059000
MESH via Orphanet 44 D007849
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0023138
Orphanet 58 ORPHA2377
MedGen 41 C0023138
UMLS 71 C0023138

Summaries for Laurence-Moon Syndrome

KEGG : 36 Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It has a clinical presentation similar to Oliver-McFarlane syndrome, including chorioretinopathy and pituitary dysfunction, though with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia. Laurence-Moon syndrome has historically been included in the Bardet-Biedl spectrum, though distinct given the marked choroidal atrophy, hypopituitarism with short stature, early neurological involvement, and the absence of polydactyly and renal disease. The retinal degeneration is quite distinct, with Laurence-Moon syndromes resembling choroideremia, and Bardet-Biedl syndrome resembling cone-rod dystrophy or retinitis pigmentosa with choroidal sparing.

MalaCards based summary : Laurence-Moon Syndrome, also known as lnms, is related to oliver-mcfarlane syndrome and retinitis pigmentosa, and has symptoms including ataxia An important gene associated with Laurence-Moon Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways/superpathways is Glycerophospholipid metabolism. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, lymph node and eye, and related phenotypes are intellectual disability and obesity

Disease Ontology : 12 A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Wikipedia : 74 Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis... more...

Related Diseases for Laurence-Moon Syndrome

Diseases related to Laurence-Moon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 12.0
2 retinitis pigmentosa 10.9
3 neuroretinitis 10.9
4 retinitis 10.9
5 polydactyly 10.9
6 diabetes insipidus 10.7
7 uremia 10.6
8 end stage renal disease 10.6
9 fundus dystrophy 10.6
10 pathologic nystagmus 10.6
11 inherited retinal disorder 10.6
12 diabetes insipidus, nephrogenic, autosomal 10.5
13 prader-willi syndrome 10.5
14 chromosome 2q35 duplication syndrome 10.5
15 leptin deficiency or dysfunction 10.5
16 autosomal recessive disease 10.5
17 glomerulonephritis 10.5
18 kidney disease 10.5
19 hypogonadism 10.4
20 fibrosis of extraocular muscles, congenital, 1 10.4
21 optic nerve hypoplasia, bilateral 10.4
22 schizophrenia 10.4
23 strabismus 10.4
24 vesicoureteral reflux 1 10.4
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
26 hypothalamic hamartomas 10.4
27 3-methylglutaconic aciduria, type iii 10.4
28 body mass index quantitative trait locus 11 10.4
29 genitourinary tract anomalies 10.4
30 body mass index quantitative trait locus 9 10.4
31 branchiootic syndrome 1 10.4
32 astigmatism 10.4
33 body mass index quantitative trait locus 8 10.4
34 anorexia nervosa 10.4
35 body mass index quantitative trait locus 4 10.4
36 body mass index quantitative trait locus 10 10.4
37 body mass index quantitative trait locus 7 10.4
38 body mass index quantitative trait locus 12 10.4
39 body mass index quantitative trait locus 14 10.4
40 body mass index quantitative trait locus 18 10.4
41 joint laxity, short stature, and myopia 10.4
42 body mass index quantitative trait locus 19 10.4
43 body mass index quantitative trait locus 20 10.4
44 brachydactyly 10.4
45 ocular albinism 10.4
46 sensorineural hearing loss 10.4
47 keratoconus 10.4
48 pyelonephritis 10.4
49 myopia 10.4
50 renal tubular acidosis 10.4

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



Diseases related to Laurence-Moon Syndrome

Symptoms & Phenotypes for Laurence-Moon Syndrome

Human phenotypes related to Laurence-Moon Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
3 hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001161
4 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
5 abnormality of the antitragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0009896
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
11 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
13 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
14 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
18 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
19 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
20 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
21 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
22 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
23 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
24 displacement of the urethral meatus 31 occasional (7.5%) HP:0100627
25 malformation of the heart and great vessels 58 Occasional (29-5%)
26 micropenis 31 HP:0000054
27 displacement of the external urethral meatus 58 Occasional (29-5%)
28 spastic paraplegia 31 HP:0001258
29 scrotal hypoplasia 31 HP:0000046
30 pigmentary retinopathy 31 HP:0000580
31 abnormality of the hand 31 HP:0001155

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Eyes:
nystagmus
pigmentary retinopathy
choroidal atrophy

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

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

Drugs & Therapeutics for Laurence-Moon Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Active, not recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
3 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
8 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics 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:

40
Pituitary, Lymph Node, Eye, Retina, Thyroid, Breast, Prostate

Publications for Laurence-Moon Syndrome

Articles related to Laurence-Moon Syndrome:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 61 56 6 52
25480986 2015
2
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. 56 6 61
8053762 1993
3
PNPLA6-Related Disorders 61 6
25299038 2014
4
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 61 56
15637713 2005
5
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 61 56
3359670 1988
6
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. 56 61
5835363 1965
7
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 56
10973251 2000
8
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. 6
3963113 1986
9
Familial eunuchoidism; the Laurence-Moon-Biedl syndrome. 56
20286155 1947
10
Expression of epithelial-mesenchymal transition-related markers and phenotypes during breast cancer progression. 61
32300922 2020
11
Is endoscopic resection appropriate for type 3 gastric neuroendocrine tumors? A retrospective multicenter study. 61
32578248 2020
12
Primary malignant melanoma of the esophagus with multiple lymph node metastases: A case report and literature review. 61
32481357 2020
13
68Ga-PSMA PET/CT for primary NM staging of high-risk prostate cancer. 61
32444374 2020
14
A CT-based radiomics model to detect prostate cancer lymph node metastases in PSMA radioguided surgery patients. 61
32468251 2020
15
The impact of treatment modality on survival in patients with clinical node-positive bladder cancer: results from a multicenter collaboration. 61
32356226 2020
16
Mapping the spreading routes of lymphatic metastases in human colorectal cancer. 61
32332722 2020
17
Diagnostic Performance of 68Gallium Labelled Prostate-Specific Membrane Antigen Positron Emission Tomography/Computed Tomography and Magnetic Resonance Imaging for Staging the Prostate Cancer with Intermediate or High Risk Prior to Radical Prostatectomy: A Systematic Review and Meta-analysis. 61
31081294 2020
18
Prognostic Value and Clinical Predictors of Lymph Node Metastases in Pancreatic Neuroendocrine Tumors. 61
32132507 2020
19
Combining Indocyanine Green and Tc99-nanocolloid does not increase the detection rate of sentinel lymph nodes in early stage cervical cancer compared to Indocyanine Green alone. 61
31780237 2020
20
Targeting the MET Receptor Tyrosine Kinase as a Strategy for Radiosensitization in Locoregionally Advanced Head and Neck Squamous Cell Carcinoma. 61
31744898 2020
21
Risk of Lymph Node Metastasis in Patients with the Superficial Spreading Type of Esophageal Squamous Cell Carcinoma. 61
30909271 2020
22
Sentinel lymph node biopsy in clinically node negative patients with papillary thyroid carcinoma. 61
32277657 2020
23
The unique prognostic characteristics of tumor deposits in colorectal cancer patients. 61
32042785 2019
24
Prognostic value of metabolic tumor volume and total lesion glycolysis from ¹⁸F-FDG PET/CT in lymph node metastases and risk stratification of endometrial carcinoma. 61
31576685 2019
25
In-Depth Proteomics Analysis to Identify Biomarkers of Papillary Thyroid Cancer Patients Older Than 45 Years with Different Degrees of Lymph Node Metastases. 61
31148369 2019
26
Mapping patterns of metastatic lymph nodes for postoperative radiotherapy in thoracic esophageal squamous cell carcinoma: a recommendation for clinical target volume definition. 61
31533656 2019
27
Downstaging of lymph node metastasis after neoadjuvant intraperitoneal and systemic chemotherapy in gastric carcinoma with peritoneal metastasis. 61
30948161 2019
28
Validity of additional surgical resection by comparing the operative risk with the stratified lymph node metastatic risk in patients with early gastric cancer after endoscopic submucosal dissection. 61
31382963 2019
29
Pelvic Sentinel lymph node detection in High-Risk Endometrial Cancer (SHREC-trial)-the final step towards a paradigm shift in surgical staging. 61
31181536 2019
30
Lymph-circulating tumor cells show distinct properties to blood-circulating tumor cells and are efficient metastatic precursors. 61
31026363 2019
31
The role of side-specific biopsy and dominant tumor location at radical prostatectomy in predicting the side of nodal metastases in organ confined prostate cancer: is lymphatic spread really unpredictable? 61
30421597 2019
32
Percutaneous Microwave Ablation of Metastatic Lymph Nodes from Papillary Thyroid Carcinoma: Preliminary Results. 61
30536023 2019
33
Molecular Classification of Lymph Node Metastases Subtypes Predict for Survival in Head and Neck Cancer. 61
30573692 2019
34
The Value of 99mTc-PSMA SPECT/CT-Guided Surgery for Identifying and Locating Lymph Node Metastasis in Prostate Cancer Patients. 61
30324468 2019
35
Positive sentinel node in luminal A-like breast cancer patients - implications for adjuvant chemotherapy? 61
30407093 2019
36
Nomograms predicting survival and patterns of failure in patients with cervical cancer treated with concurrent chemoradiotherapy: A special focus on lymph nodes metastases. 61
30986236 2019
37
Risk assessment of lymph node metastases in early gastric adenocarcinoma fulfilling expanded endoscopic resection criteria. 61
30053392 2018
38
High expression and localization of β-catenin and epidermal growth factor receptor identify high risk papillary thyroid carcinoma patients. 61
30077672 2018
39
Decreased methylation in the SNAI2 and ADAM23 genes associated with de-differentiation and haematogenous dissemination in breast cancers. 61
30189837 2018
40
The sonographic findings of micropapillary pattern in pure mucinous carcinoma of the breast. 61
30041628 2018
41
Podoplanin-positive Cancer-associated Stromal Fibroblasts in Primary Tumor and Synchronous Lymph Node Metastases of HER2-overexpressing Breast Carcinomas. 61
29599311 2018
42
Proteomic Characterization of Prostate Cancer to Distinguish Nonmetastasizing and Metastasizing Primary Tumors and Lymph Node Metastases. 61
29248718 2018
43
CUNR scoring system for the prediction of lateral lymph node metastasis in papillary thyroid carcinoma. 61
29416604 2018
44
Heterogeneity of PD-L1 expression in primary tumors and paired lymph node metastases of triple negative breast cancer. 61
29291717 2018
45
Comparison of 68Ga-PSMA-11 PET-CT with mpMRI for preoperative lymph node staging in patients with intermediate to high-risk prostate cancer. 61
29115970 2017
46
Is it time for one-step nucleic acid amplification (OSNA) in colorectal cancer? A systematic review and meta-analysis. 61
28887714 2017
47
Folic acid on iron oxide nanoparticles: platform with high potential for simultaneous targeting, MRI detection and hyperthermia treatment of lymph node metastases of prostate cancer. 61
28914298 2017
48
Identification and characterization of a biosynthetic gene cluster for tryptophan dimers in deep sea-derived Streptomyces sp. SCSIO 03032. 61
28620687 2017
49
Accuracy of contemporary oesophageal cancer lymph node staging with radiological-pathological correlation. 61
28363659 2017
50
Prognostic performance of three lymph node staging schemes for patients with Siewert type II adenocarcinoma of esophagogastric junction. 61
28860457 2017

Variations for Laurence-Moon Syndrome

ClinVar genetic disease variations for Laurence-Moon Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA6 NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)duplication Pathogenic 6607 rs606231167 19:7620610-7620611 19:7555724-7555725
2 PNPLA6 PNPLA6, GLY776ARGundetermined variant Pathogenic 183694
3 PNPLA6 NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)SNV Uncertain significance 240694 rs377449787 19:7621340-7621340 19:7556454-7556454
4 PNPLA6 NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)SNV Uncertain significance 547855 rs375397452 19:7607776-7607776 19:7542890-7542890

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

73
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Gly726Arg VAR_073409

Expression for Laurence-Moon Syndrome

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

Pathways for Laurence-Moon Syndrome

Pathways related to Laurence-Moon Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

GO Terms for Laurence-Moon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 8.8 FOLH1 ADAM28 ADAM23

Sources for Laurence-Moon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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