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 57 12 20 58 73 36 29 6 44 15 39 71
Lnms 57 12 20 73
Laurence-Moon-Biedl Syndrome 12 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 245800
KEGG 36 H02137
MeSH 44 D007849
NCIt 50 C34760
SNOMED-CT 67 232059000
MESH via Orphanet 45 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

GARD : 20 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 neuroretinitis, 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 Anesthetics and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include pituitary, eye and lymph node, 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.

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) (Updated 05-Mar-2021)

KEGG : 36 Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome.

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 63)
# Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 11.3
2 neuroretinitis 10.8
3 retinitis 10.8
4 retinitis pigmentosa 10.8
5 polydactyly 10.7
6 bardet-biedl syndrome 1 10.6
7 bardet-biedl syndrome 10.5
8 diabetes insipidus 10.5
9 uremia 10.5
10 fundus dystrophy 10.5
11 pathologic nystagmus 10.5
12 inherited retinal disorder 10.5
13 diabetes insipidus, nephrogenic, autosomal 10.4
14 prader-willi syndrome 10.4
15 chromosome 2q35 duplication syndrome 10.4
16 autosomal recessive disease 10.4
17 acute cystitis 10.4
18 glomerulonephritis 10.4
19 hypogonadism 10.3
20 optic nerve hypoplasia, bilateral 10.2
21 schizophrenia 10.2
22 strabismus 10.2
23 vesicoureteral reflux 1 10.2
24 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
25 3-methylglutaconic aciduria, type iii 10.2
26 genitourinary tract anomalies 10.2
27 branchiootic syndrome 1 10.2
28 astigmatism 10.2
29 anorexia nervosa 10.2
30 leptin deficiency or dysfunction 10.2
31 proteinuria, chronic benign 10.2
32 brachydactyly 10.2
33 ocular albinism 10.2
34 urinary tract infection 10.2
35 sensorineural hearing loss 10.2
36 keratoconus 10.2
37 pyelonephritis 10.2
38 myopia 10.2
39 hypothyroidism 10.2
40 heart septal defect 10.2
41 atrial heart septal defect 10.2
42 hyperostosis 10.2
43 pustulosis of palm and sole 10.2
44 bile duct cancer 10.2
45 retinal degeneration 10.2
46 psoriasis 10.2
47 mechanical strabismus 10.2
48 congenital nystagmus 10.2
49 refractive error 10.2
50 albinism 10.2

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 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
12 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
13 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
15 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 Anesthetics
2 Insulin, Globin Zinc
3 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
4 Siewert Type I and II Esophageal Adenocarcinoma (EAC): CT, PET-CT, EUS Sensitivity / Specificity for the Assessment of Lymph Node Metastases (LNM) in Groups of Thoracic and Abdominal Lymph Nodal Stations Completed NCT03529968
5 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
6 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
7 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
8 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
9 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
10 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, Eye, Lymph Node, Retina, Thyroid, Breast, Prostate

Publications for Laurence-Moon Syndrome

Articles related to Laurence-Moon Syndrome:

(show top 50) (show all 164)
# Title Authors PMID Year
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 20 6 57 61
25480986 2015
2
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. 57 6 61
8053762 1993
3
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 57 61
15637713 2005
4
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 57 61
3359670 1988
5
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. 61 57
5835363 1965
6
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 57
10973251 2000
7
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. 6
3963113 1986
8
Familial eunuchoidism; the Laurence-Moon-Biedl syndrome. 57
20286155 1947
9
68Ga-PSMA PET/CT for Primary Lymph Node and Distant Metastasis NM Staging of High-Risk Prostate Cancer. 61
32444374 2021
10
A retrospective study of the risk factors and the prognosis in patients with papillary thyroid carcinoma depending on the number of lymph node metastasis. 61
33386568 2021
11
Histopathological Diagnosis of Tumour Deposits in Colorectal Cancer: A Delphi Consensus Study. 61
33511676 2021
12
Performance of Indocyanine-Green Imaging for Sentinel Lymph Node Mapping and Lymph Node Metastasis in Esophageal Cancer: Systematic Review and Meta-Analysis. 61
33515138 2021
13
Novel variants in PNPLA6 causing syndromic retinal dystrophy. 61
33141049 2021
14
68Ga-PSMA-11 Positron Emission Tomography/Computed Tomography for Primary Lymph Node Staging Before Radical Prostatectomy: Central Review of Imaging and Comparison with Histopathology of Extended Lymphadenectomy. 61
33509671 2021
15
The Prognostic Relevance of the Number and Location of Positive Lymph Nodes for Ampulla of Vater Carcinoma. 61
32909124 2021
16
Diffusion-Weighted MRI Predicts Lymph Node Metastasis and Tumor Aggressiveness in Resectable Pancreatic Neuroendocrine Tumors. 61
32797282 2020
17
Recent advances in optical and optoelectronic data storage based on luminescent nanomaterials. 61
33227110 2020
18
Ultrasonography for the Prediction of High-Volume Lymph Node Metastases in Papillary Thyroid Carcinoma: Should Surgeons Believe Ultrasound Results? 61
32918103 2020
19
A CT-based radiomics model to detect prostate cancer lymph node metastases in PSMA radioguided surgery patients. 61
32468251 2020
20
57% decline in Rhode Island invasive breast cancer mortality between 1987 and 2017: mammography predominates in preventing mortality. 61
32779036 2020
21
The molecular and gene/miRNA expression profiles of radioiodine resistant papillary thyroid cancer. 61
33198784 2020
22
Can extranodal tumour deposits be diagnosed on MRI? Protocol for a multicentre clinical trial (the COMET trial). 61
33033006 2020
23
Clinicopathological Features as Prognostic Predictors of Poor Outcome in Papillary Thyroid Carcinoma. 61
33138175 2020
24
Preoperative Serum Calcitonin and Its Correlation with Extent of Lymph Node Metastasis in Medullary Thyroid Carcinoma. 61
33050233 2020
25
Deep learning analysis of the primary tumour and the prediction of lymph node metastases in gastric cancer. 61
32990326 2020
26
High-resolution MRI-based radiomics analysis to predict lymph node metastasis and tumor deposits respectively in rectal cancer. 61
32940755 2020
27
Nodal metastatic load in papillary thyroid carcinoma. Morphological and molecular analysis with one-step nucleic acid amplification on more than 550 lymph nodes. 61
32800751 2020
28
Examination of Prognostic Factors Affecting Long-Term Survival of Patients with Stage 3/4 Gallbladder Cancer without Distant Metastasis. 61
32726993 2020
29
Is endoscopic resection appropriate for type 3 gastric neuroendocrine tumors? Retrospective multicenter study. 61
32578248 2020
30
Expression of epithelial-mesenchymal transition-related markers and phenotypes during breast cancer progression. 61
32300922 2020
31
Primary malignant melanoma of the esophagus with multiple lymph node metastases: A case report and literature review. 61
32481357 2020
32
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
33
Mapping the spreading routes of lymphatic metastases in human colorectal cancer. 61
32332722 2020
34
The impact of treatment modality on survival in patients with clinical node-positive bladder cancer: results from a multicenter collaboration. 61
32356226 2020
35
Prognostic Value and Clinical Predictors of Lymph Node Metastases in Pancreatic Neuroendocrine Tumors. 61
32132507 2020
36
Targeting the MET Receptor Tyrosine Kinase as a Strategy for Radiosensitization in Locoregionally Advanced Head and Neck Squamous Cell Carcinoma. 61
31744898 2020
37
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
38
Risk of Lymph Node Metastasis in Patients with the Superficial Spreading Type of Esophageal Squamous Cell Carcinoma. 61
30909271 2020
39
Sentinel lymph node biopsy in clinically node negative patients with papillary thyroid carcinoma. 61
32277657 2020
40
The unique prognostic characteristics of tumor deposits in colorectal cancer patients. 61
32042785 2019
41
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
42
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
43
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
44
Downstaging of lymph node metastasis after neoadjuvant intraperitoneal and systemic chemotherapy in gastric carcinoma with peritoneal metastasis. 61
30948161 2019
45
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
46
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
47
Lymph-circulating tumor cells show distinct properties to blood-circulating tumor cells and are efficient metastatic precursors. 61
31026363 2019
48
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
49
Percutaneous Microwave Ablation of Metastatic Lymph Nodes from Papillary Thyroid Carcinoma: Preliminary Results. 61
30536023 2019
50
Molecular Classification of Lymph Node Metastases Subtypes Predict for Survival in Head and Neck Cancer. 61
30573692 2019

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 G776R Variation Pathogenic 183694
2 PNPLA6 NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) Duplication Pathogenic 6607 rs606231167 19:7620610-7620611 19:7555724-7555725
3 PNPLA6 NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) SNV Uncertain significance 547855 rs375397452 19:7607776-7607776 19:7542890-7542890
4 PNPLA6 NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) SNV Uncertain significance 240694 rs377449787 19:7621340-7621340 19:7556454-7556454

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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