LNMS
MCID: LRN001
MIFTS: 56

Laurence-Moon Syndrome (LNMS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Laurence-Moon Syndrome

MalaCards integrated aliases for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 57 11 19 58 73 28 5 43 14 38 71 75
Lnms 57 11 19 73
Laurence-Moon-Biedl Syndrome 11 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)


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 11 DOID:1930
OMIM® 57 245800
MeSH 43 D007849
NCIt 49 C34760
SNOMED-CT 68 232059000
MESH via Orphanet 44 D007849
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C0023138
Orphanet 58 ORPHA2377
MedGen 40 C0023138
UMLS 71 C0023138

Summaries for Laurence-Moon Syndrome

GARD: 19 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 in the PNPLA6 gene and is inherited in an autosomal recessive manner.

MalaCards based summary: Laurence-Moon Syndrome, also known as lnms, is related to oliver-mcfarlane syndrome and bardet-biedl syndrome 10, 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 are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Pharmaceutical Solutions and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and retina, and related phenotypes are intellectual disability and obesity

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 08-Dec-2022)

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Orphanet: 58 A very rare genetic multisystemic disorder characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap.

Wikipedia: 75 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 113)
# Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 31.5 PNPLA6 DDHD2 ATCAY
2 bardet-biedl syndrome 10 30.9 BBS10 BBS1
3 bardet-biedl syndrome 1 30.6 BBS9 BBS7 BBS5 BBS10 BBS1
4 polydactyly 30.4 TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
5 bardet-biedl syndrome 11 30.1 TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
6 retinitis pigmentosa 29.9 TTC8 RPGRIP1 PNPLA6 BBS9 BBS7 BBS5
7 chromosome 2q35 duplication syndrome 29.9 TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
8 bardet-biedl syndrome 29.9 TTC8 RPGRIP1 BBS9 BBS7 BBS5 BBS10
9 retinal degeneration 29.8 RPGRIP1 PNPLA6 BBS7 BBS10 BBS1
10 fundus dystrophy 29.6 TTC8 RPGRIP1 PNPLA6 BBS9 BBS7 BBS5
11 retinitis 10.8
12 bardet-biedl syndrome 2 10.5
13 bardet-biedl syndrome 12 10.5
14 central diabetes insipidus 10.5
15 diabetes insipidus 10.5
16 uremia 10.5
17 end stage renal disease 10.5
18 pathologic nystagmus 10.5
19 inherited retinal disorder 10.5
20 prader-willi syndrome 10.4
21 urinary tract infection 10.4
22 nephrogenic diabetes insipidus 10.4
23 glomerulonephritis 10.4
24 kidney disease 10.4
25 chronic kidney disease 10.4
26 hypogonadism 10.3
27 pallister-hall syndrome 10.2
28 lipomatosis, multiple 10.2
29 optic nerve hypoplasia, bilateral 10.2
30 polycystic kidney disease 1 with or without polycystic liver disease 10.2
31 psoriasis 1 10.2
32 strabismus 10.2
33 pallister-hall-like syndrome 10.2
34 3-methylglutaconic aciduria, type iii 10.2
35 genitourinary tract anomalies 10.2
36 asthma 10.2
37 psoriasis 2 10.2
38 astigmatism 10.2
39 urinary tract infections, recurrent 10.2
40 psoriasis 7 10.2
41 atrioventricular septal defect 10.2
42 anorexia nervosa 10.2
43 psoriasis 11 10.2
44 psoriasis 13 10.2
45 leptin deficiency or dysfunction 10.2
46 leptin receptor deficiency 10.2
47 brachydactyly 10.2
48 ocular albinism 10.2
49 isolated growth hormone deficiency 10.2
50 hypogonadotropic hypogonadism 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 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001513
3 hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001161
4 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
5 abnormal antitragus morphology 30 Hallmark (90%) HP:0009896
6 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
8 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
9 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
10 hypoplasia of penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008736
11 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
12 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
13 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
14 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
15 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
16 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
17 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
18 brachydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001156
19 bilateral single transverse palmar creases 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007598
20 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
21 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
22 displacement of the urethral meatus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100627
23 congenital hepatic fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002612
24 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
25 malformation of the heart and great vessels 58 Occasional (29-5%)
26 micropenis 30 HP:0000054
27 spastic paraplegia 30 HP:0001258
28 abnormality of the antitragus 58 Very frequent (99-80%)
29 pigmentary retinopathy 30 HP:0000580
30 abnormality of the hand 30 HP:0001155
31 small scrotum 30 HP:0000046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

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

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.53 ATCAY
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 DDHD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.53 DDHD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.53 BBS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.53 ATCAY BBS1 DDHD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.53 ATCAY
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.53 DDHD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.53 ATCAY
9 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.53 DDHD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.53 BBS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.53 BBS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.53 ATCAY
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 ATCAY
14 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.53 BBS1

MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.14 ARL6IP5 ATCAY BBS1 BBS10 BBS5 BBS7
2 homeostasis/metabolism MP:0005376 9.96 ARL6IP5 ATCAY BBS1 BBS10 BBS5 BBS7
3 growth/size/body region MP:0005378 9.9 ARL6IP5 ATCAY BBS1 BBS10 BBS5 BBS7
4 renal/urinary system MP:0005367 9.85 BBS1 BBS10 BBS5 BBS7 HIVEP3 TTC8
5 limbs/digits/tail MP:0005371 9.72 BBS1 BBS5 BBS7 BBS9 HIVEP3
6 behavior/neurological MP:0005386 9.61 ARL6IP5 ATCAY BBS1 BBS10 BBS5 BBS7
7 taste/olfaction MP:0005394 8.8 BBS1 BBS7 TTC8

Drugs & Therapeutics for Laurence-Moon Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 alpha-MSH Phase 3 581-05-5
3 Hormones Phase 3
4 Hormone Antagonists Phase 3
5 Anesthetics
6 Insulin, Globin Zinc
7
Insulin

Interventional clinical trials:

(show all 14)
# 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 Completed NCT03746522 Phase 3 Setmelanotide;Placebos
2 A Phase 3 Multi-Center, One-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity Active, not recruiting NCT04966741 Phase 3 Setmelanotide
3 A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation Enrolling by invitation NCT05194124 Phase 3 Setmelanotide 20mg weekly;Placebo daily;Setmelanotide 30mg weekly;Setmelanotide 2mg daily;Setmelanotide 3mg daily;Placebo weekly
4 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
5 An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS) Approved for marketing NCT05183802 Setmelanotide, administered subcutaneously [SC], once daily.
6 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
7 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
8 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
9 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
10 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
11 Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis Recruiting NCT04874909
12 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
13 Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome Enrolling by invitation NCT05400278
14 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 28 PNPLA6

Anatomical Context for Laurence-Moon Syndrome

Organs/tissues related to Laurence-Moon Syndrome:

MalaCards : Eye, Pituitary, Retina, Lymph Node, Thyroid, Heart, Prostate

Publications for Laurence-Moon Syndrome

Articles related to Laurence-Moon Syndrome:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 62 57 5
25480986 2015
2
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. 62 57 5
8053762 1993
3
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 62 57
15637713 2005
4
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 62 57
3359670 1988
5
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. 62 57
5835363 1965
6
Familial eunuchoidism; the Laurence-Moon-Biedl syndrome. 62 57
20286155 1947
7
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 57
10973251 2000
8
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. 5
3963113 1986
9
Low Expression of SNAI1 in Lymph Node Metastasis Indicates Delayed Recurrence of Colonic Cancer. 62
36456120 2022
10
Nodal Metastases in Pediatric and Adult Acinic Cell Carcinoma of the Major Salivary Glands. 62
35259039 2022
11
Comparative Study of Initial Post-Therapeutic 131I SPECT/CT and Reoperation for the Detection of Residual Lymph Node Metastasis in Patients with Papillary Thyroid Cancer. 62
36356838 2022
12
Free-indocyanine green-guided pelvic lymph node dissection during radical prostatectomy. 62
36175317 2022
13
Carbonic anhydrase IX stratifies patient prognosis and identifies nodal status in animal models of nasopharyngeal carcinoma using a targeted imaging strategy. 62
35925443 2022
14
Sentinel Lymph Node Biopsy and Formal Lymphadenectomy for Soft Tissue Sarcoma: A Single Center Experience of 86 Consecutive Cases. 62
35501583 2022
15
Risk factors for cervical lymph node metastasis of head and neck squamous cell carcinoma: A retrospective population-based study. 62
35526829 2022
16
Characteristics of tumour stroma in regional lymph node metastases in colorectal cancer patients: a theoretical framework for future diagnostic imaging with FAPI PET/CT. 62
35482276 2022
17
Prognostic impact of tumor deposits on overall survival in colorectal cancer: Based on Surveillance, Epidemiology, and End Results database. 62
36187391 2022
18
Long-term outcomes after endoscopic versus surgical resection of T1 colorectal carcinoma. 62
36171453 2022
19
Radiomics for differentiating tumor deposits from lymph node metastasis in rectal cancer. 62
36157536 2022
20
IDO1 is highly expressed in macrophages of patients in advanced tumour stages of oral squamous cell carcinoma. 62
35963900 2022
21
Diagnostic performance of ultrasound and computed tomography in parallel for the diagnosis of lymph node metastasis in patients with thyroid cancer: a systematic review and meta-analysis. 62
35935558 2022
22
Targeted amplicon sequencing for primary tumors and matched lymph node metastases in patients with extrahepatic cholangiocarcinoma. 62
34903468 2022
23
Preoperative pelvic MRI and 2-[18F]FDG PET/CT for lymph node staging and prognostication in endometrial cancer-time to revisit current imaging guidelines? 62
35763096 2022
24
CARE-compliant stereotactic radiotherapy of urothelial nodal metastases: A case report. 62
35251636 2022
25
Peripheral Versus Intraparenchymal Papillary Thyroid Microcarcinoma: Different Morphologies and PD-L1 Expression. 62
34076845 2022
26
Transabdominal Ultrasonography for Preoperative Diagnosis of Lymph Node Metastasis in Colon Cancer: A Retrospective Cohort Study. 62
35399166 2022
27
Lymph Node Metastases from Visceral Peritoneal Colorectal Metastases are Associated with Systemic Recurrence. 62
34622371 2022
28
Depressive symptom complexes of community-dwelling older adults: a latent network model. 62
34642459 2022
29
The Risk Analyses of Lymph Node Metastasis and Recurrence for Submucosal Invasive Colorectal Cancer: Novel Criteria to Skip Completion Surgery. 62
35159088 2022
30
Multi-omics analyses revealed key factors involved in fluorescent carbon-dots-regulated secondary metabolism in Tetrastigma hemsleyanum. 62
35109871 2022
31
Predictive Factors for Recurrence of Papillary Thyroid Carcinoma in Children and Adolescents. 62
35280803 2022
32
Feasibility of Preserving No. 5 and No. 6 Lymph Nodes in Gastrectomy of Proximal Gastric Adenocarcinoma: A Retrospective Analysis of 395 Patients. 62
35296021 2022
33
The utility of sentinel Lymph node biopsy in the lateral neck in papillary thyroid carcinoma. 62
35957824 2022
34
Development and validation of a nomogram model for the prediction of 4L lymph node metastasis in thoracic esophageal squamous cell carcinoma. 62
36263210 2022
35
Comprehensive analysis of tissue proteomics in patients with papillary thyroid microcarcinoma uncovers the underlying mechanism of lymph node metastasis and its significant sex disparities. 62
36106120 2022
36
Lymphatic Vessel Invasion in Routine Pathology Reports of Papillary Thyroid Cancer. 62
35265646 2022
37
Prognostic and staging value of tumor deposits in patients with rectal cancer after neoadjuvant chemoradiotherapy. 62
35116355 2021
38
miR-205-5p Downregulation and ZEB1 Upregulation Characterize the Disseminated Tumor Cells in Patients with Invasive Ductal Breast Cancer. 62
35008529 2021
39
Resection of the upper paracervical lymphovascular tissue should be an integral part of a pelvic sentinel lymph node algorithm in early stage cervical cancer. 62
34509298 2021
40
The value of intravenous contrast medium in PSMA PET/CT imaging in patients with biochemical recurrence of prostate cancer. 62
34132237 2021
41
Lymph node metastases >5 and metastatic lymph node ratio >0.30 of differentiated thyroid cancer predict response to radioactive iodine. 62
34622559 2021
42
Freezing Nodal Disease: Local Control Following Percutaneous Image-Guided Cryoablation of Locoregional and Distant Lymph Node Oligometastases: A 10-Year, Single-Center Experience. 62
34271190 2021
43
The role of lymph node dissection in intrahepatic cholangiocarcinoma: a multicenter retrospective study. 62
34627199 2021
44
The Diagnostic Value of FDG-PET/CT for Urachal Cancer. 62
33858788 2021
45
Performance of Indocyanine-Green Imaging for Sentinel Lymph Node Mapping and Lymph Node Metastasis in Esophageal Cancer: Systematic Review and Meta-Analysis. 62
33515138 2021
46
Histopathological diagnosis of tumour deposits in colorectal cancer: a Delphi consensus study. 62
33511676 2021
47
Lymph Node Staging with a Combined Protocol of 18F-FDG PET/MRI and Sentinel Node SPECT/CT: A Prospective Study in Patients with FIGO I/II Cervical Carcinoma. 62
33509973 2021
48
The Association of the BRAF-V600E Mutation with the Expression of the Molecular Markers in the Primary Tumor and Metastatic Tissue in Papillary Thyroid Cancer. 62
34319022 2021
49
Histopathological risk factors for lymph node metastases in T1 colorectal cancer: meta-analysis. 62
34244752 2021
50
Deep learning analysis of the primary tumour and the prediction of lymph node metastases in gastric cancer. 62
34043780 2021

Variations for Laurence-Moon Syndrome

ClinVar genetic disease variations for Laurence-Moon Syndrome:

5 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPLA6 NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg) SNV Pathogenic
183694 GRCh37: 19:7615958-7615958
GRCh38: 19:7551072-7551072
2 PNPLA6 NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) DUP Pathogenic
6607 rs606231167 GRCh37: 19:7620610-7620611
GRCh38: 19:7555724-7555725
3 PNPLA6 NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) SNV Uncertain Significance
1030131 rs2023576110 GRCh37: 19:7614953-7614953
GRCh38: 19:7550067-7550067
4 PNPLA6 NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) SNV Uncertain Significance
1679717 GRCh37: 19:7600703-7600703
GRCh38: 19:7535817-7535817
5 PNPLA6 NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) SNV Uncertain Significance
547855 rs375397452 GRCh37: 19:7607776-7607776
GRCh38: 19:7542890-7542890
6 PNPLA6 NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) SNV Uncertain Significance
240694 rs377449787 GRCh37: 19:7621340-7621340
GRCh38: 19:7556454-7556454
7 PNPLA6 NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) SNV Uncertain Significance
Not Provided
567501 rs140929996 GRCh37: 19:7607714-7607714
GRCh38: 19:7542828-7542828
8 PNPLA6 NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) SNV Uncertain Significance
1001408 rs760038069 GRCh37: 19:7625580-7625580
GRCh38: 19:7560694-7560694
9 PNPLA6 NM_001166114.2(PNPLA6):c.1253-6C>T SNV Benign
330520 rs574930 GRCh37: 19:7607441-7607441
GRCh38: 19:7542555-7542555
10 PNPLA6 NM_001166114.2(PNPLA6):c.1362+8T>C SNV Benign
330522 rs620744 GRCh37: 19:7607564-7607564
GRCh38: 19:7542678-7542678
11 PNPLA6 NM_001166114.2(PNPLA6):c.2635-19A>C SNV Benign
380864 rs539887 GRCh37: 19:7619760-7619760
GRCh38: 19:7554874-7554874
12 PNPLA6 NM_001166114.2(PNPLA6):c.2818-19A>G SNV Benign
380865 rs563826 GRCh37: 19:7620116-7620116
GRCh38: 19:7555230-7555230
13 PNPLA6 NM_001166114.2(PNPLA6):c.3699+42G>A SNV Benign
667948 rs538852 GRCh37: 19:7624079-7624079
GRCh38: 19:7559193-7559193
14 PNPLA6 NM_001166114.2(PNPLA6):c.2634+38G>C SNV Benign
1221245 GRCh37: 19:7619647-7619647
GRCh38: 19:7554761-7554761
15 PNPLA6 NM_001166114.2(PNPLA6):c.2634+39T>C SNV Benign
1221947 GRCh37: 19:7619648-7619648
GRCh38: 19:7554762-7554762
16 PNPLA6 NM_001166114.2(PNPLA6):c.2465+41C>G SNV Benign
1234311 GRCh37: 19:7619199-7619199
GRCh38: 19:7554313-7554313
17 PNPLA6 NM_001166114.2(PNPLA6):c.3699+41C>T SNV Benign
1258779 GRCh37: 19:7624078-7624078
GRCh38: 19:7559192-7559192
18 PNPLA6 NM_001166114.2(PNPLA6):c.3398-36G>A SNV Benign
1265729 GRCh37: 19:7623700-7623700
GRCh38: 19:7558814-7558814
19 PNPLA6 NM_001166114.2(PNPLA6):c.3280+38C>T SNV Benign
1268471 GRCh37: 19:7621648-7621648
GRCh38: 19:7556762-7556762
20 PNPLA6 NM_001166114.2(PNPLA6):c.2260+24G>A SNV Benign
1295442 GRCh37: 19:7616347-7616347
GRCh38: 19:7551461-7551461
21 PNPLA6 NM_001166114.2(PNPLA6):c.3913+23del DEL Benign
429198 rs11307097 GRCh37: 19:7626014-7626014
GRCh38: 19:7561128-7561128
22 PNPLA6 NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) SNV Not Provided
409994 rs151264767 GRCh37: 19:7626183-7626183
GRCh38: 19:7561297-7561297

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

GO Terms for Laurence-Moon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.03 TTC8 PDXP BBS9 BBS7 BBS5 BBS1
2 axoneme GO:0005930 10.01 RPGRIP1 BBS7 BBS5 BBS1
3 cilium GO:0005929 9.96 BBS1 BBS10 BBS5 BBS7 BBS9 RPGRIP1
4 centriolar satellite GO:0034451 9.92 DDHD2 BBS9 BBS5 BBS1
5 ciliary membrane GO:0060170 9.85 TTC8 BBS9 BBS7 BBS5 BBS1
6 microtubule organizing center GO:0005815 9.77 TTC8 BBS9 BBS7 BBS5 BBS1
7 cell projection GO:0042995 9.61 TTC8 RPGRIP1 PDXP BBS9 BBS7 BBS5
8 BBSome GO:0034464 9.32 TTC8 BBS9 BBS7 BBS5 BBS1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.14 TTC8 BBS9 BBS7 BBS5 BBS1 ARL6IP5
2 cilium assembly GO:0060271 10.07 BBS1 BBS5 BBS7 BBS9 TTC8
3 response to stimulus GO:0050896 9.96 BBS1 BBS10 BBS5 BBS7 BBS9 RPGRIP1
4 fat cell differentiation GO:0045444 9.92 TTC8 BBS9 BBS7 BBS1
5 neural precursor cell proliferation GO:0061351 9.76 RPGRIP1 BBS1
6 melanosome transport GO:0032402 9.73 BBS7 BBS5
7 visual perception GO:0007601 9.73 RPGRIP1 BBS9 BBS7 BBS5 BBS10 BBS1
8 cell projection organization GO:0030030 9.55 TTC8 BBS9 BBS7 BBS5 BBS1
9 non-motile cilium assembly GO:1905515 9.32 TTC8 RPGRIP1 BBS7 BBS10 BBS1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.32 TTC8 BBS7 BBS5 BBS10 BBS1

Sources for Laurence-Moon Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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