Laurence-Moon Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

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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...

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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:

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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

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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

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Genetic Tests for Laurence-Moon Syndrome

Genetic tests related to Laurence-Moon Syndrome:

#	Genetic test	Affiliating Genes
1	Laurence-Moon Syndrome ²⁸	PNPLA6

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Anatomical Context for Laurence-Moon Syndrome

Organs/tissues related to Laurence-Moon Syndrome:

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

Sources

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	Hufnagel RB...Ahmed ZM	25480986	2015
2	[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency]. ⁶² ⁵⁷ ⁵	Chalvon-Demersay A...Labrune B	8053762	1993
3	Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. ⁶² ⁵⁷	Moore SJ...Parfrey PS	15637713	2005
4	Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. ⁶² ⁵⁷	Farag TI...Teebi AS	3359670	1988
5	The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. ⁶² ⁵⁷	Bowen P...Butler HG	5835363	1965
6	Familial eunuchoidism; the Laurence-Moon-Biedl syndrome. ⁶² ⁵⁷	ROTH AA	20286155	1947
7	Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. ⁵⁷	Katsanis N...Lupski JR	10973251	2000
8	Congenital trichomegaly, pigmentary retinal degeneration, and short stature. ⁵	Patton MA...Baraitser M	3963113	1986
9	Low Expression of SNAI1 in Lymph Node Metastasis Indicates Delayed Recurrence of Colonic Cancer. ⁶²	Lim S...Ishihara S	36456120	2022
10	Nodal Metastases in Pediatric and Adult Acinic Cell Carcinoma of the Major Salivary Glands. ⁶²	Dublin JC...Givi B	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	Dai H...Huang R	36356838	2022
12	Free-indocyanine green-guided pelvic lymph node dissection during radical prostatectomy. ⁶²	Claps F...Ramirez-Backhaus M	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	Huang W...Tian J	35925443	2022
14	Sentinel Lymph Node Biopsy and Formal Lymphadenectomy for Soft Tissue Sarcoma: A Single Center Experience of 86 Consecutive Cases. ⁶²	Witt RG...Keung EZ	35501583	2022
15	Risk factors for cervical lymph node metastasis of head and neck squamous cell carcinoma: A retrospective population-based study. ⁶²	Zhang Y...Zhu H	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	Polack M...Mesker WE	35482276	2022
17	Prognostic impact of tumor deposits on overall survival in colorectal cancer: Based on Surveillance, Epidemiology, and End Results database. ⁶²	Wu WX...Jie JZ	36187391	2022
18	Long-term outcomes after endoscopic versus surgical resection of T1 colorectal carcinoma. ⁶²	Bae HJ...Cho YS	36171453	2022
19	Radiomics for differentiating tumor deposits from lymph node metastasis in rectal cancer. ⁶²	Zhang YC...Song B	36157536	2022
20	IDO1 is highly expressed in macrophages of patients in advanced tumour stages of oral squamous cell carcinoma. ⁶²	Struckmeier AK...Horn D	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	Wang Y...Yang G	35935558	2022
22	Targeted amplicon sequencing for primary tumors and matched lymph node metastases in patients with extrahepatic cholangiocarcinoma. ⁶²	Yamada T...Hirano S	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	Fasmer KE...Haldorsen IS	35763096	2022
24	CARE-compliant stereotactic radiotherapy of urothelial nodal metastases: A case report. ⁶²	Medici F...Morganti AG	35251636	2022
25	Peripheral Versus Intraparenchymal Papillary Thyroid Microcarcinoma: Different Morphologies and PD-L1 Expression. ⁶²	Kovacevic B...Eloy C	34076845	2022
26	Transabdominal Ultrasonography for Preoperative Diagnosis of Lymph Node Metastasis in Colon Cancer: A Retrospective Cohort Study. ⁶²	Imaizumi K...Taketomi A	35399166	2022
27	Lymph Node Metastases from Visceral Peritoneal Colorectal Metastases are Associated with Systemic Recurrence. ⁶²	Nizri E...Geva R	34622371	2022
28	Depressive symptom complexes of community-dwelling older adults: a latent network model. ⁶²	Belvederi Murri M...Alexopoulos GS	34642459	2022
29	The Risk Analyses of Lymph Node Metastasis and Recurrence for Submucosal Invasive Colorectal Cancer: Novel Criteria to Skip Completion Surgery. ⁶²	Ozeki T...Kataoka H	35159088	2022
30	Multi-omics analyses revealed key factors involved in fluorescent carbon-dots-regulated secondary metabolism in Tetrastigma hemsleyanum. ⁶²	Peng X...Wang Y	35109871	2022
31	Predictive Factors for Recurrence of Papillary Thyroid Carcinoma in Children and Adolescents. ⁶²	Gui Y...Wang J	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	Yang X...Li C	35296021	2022
33	The utility of sentinel Lymph node biopsy in the lateral neck in papillary thyroid carcinoma. ⁶²	Yan XQ...Cao FL	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	Xu L...Li Y	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	Cao Z...Liu Z	36106120	2022
36	Lymphatic Vessel Invasion in Routine Pathology Reports of Papillary Thyroid Cancer. ⁶²	Chiapponi C...Schultheis AM	35265646	2022
37	Prognostic and staging value of tumor deposits in patients with rectal cancer after neoadjuvant chemoradiotherapy. ⁶²	Xu T...Wang F	35116355	2021
38	miR-205-5p Downregulation and ZEB1 Upregulation Characterize the Disseminated Tumor Cells in Patients with Invasive Ductal Breast Cancer. ⁶²	Kalinkova L...Fridrichova I	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	Luhrs O...Persson J	34509298	2021
40	The value of intravenous contrast medium in PSMA PET/CT imaging in patients with biochemical recurrence of prostate cancer. ⁶²	Winiger A...Strobel K	34132237	2021
41	Lymph node metastases >5 and metastatic lymph node ratio >0.30 of differentiated thyroid cancer predict response to radioactive iodine. ⁶²	Yun C...Jia H	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	Autrusseau PA...Garnon J	34271190	2021
43	The role of lymph node dissection in intrahepatic cholangiocarcinoma: a multicenter retrospective study. ⁶²	Hu H...Cai J	34627199	2021
44	The Diagnostic Value of FDG-PET/CT for Urachal Cancer. ⁶²	Stokkel LE...Mertens LS	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	Jimenez-Lillo J...Lacy A	33515138	2021
46	Histopathological diagnosis of tumour deposits in colorectal cancer: a Delphi consensus study. ⁶²	Lord A...Nagtegaal I	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	Weissinger M...Dittmann H	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	Spirina LV...Kondakova IV	34319022	2021
49	Histopathological risk factors for lymph node metastases in T1 colorectal cancer: meta-analysis. ⁶²	Ebbehoj AL...Smith HG	34244752	2021
50	Deep learning analysis of the primary tumour and the prediction of lymph node metastases in gastric cancer. ⁶²	Jin C...Li R	34043780	2021

Sources

Genes for Laurence-Moon Syndrome

Genes related to Laurence-Moon Syndrome (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	1716.53	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	3963113 8053762 25480986
2	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	5.64	DISEASES inferred ¹⁴
3	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	5.51	DISEASES inferred ¹⁴
4	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	5.5	DISEASES inferred ¹⁴
5	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	5.24	DISEASES inferred ¹⁴
6	PHC3	Polyhomeotic Homolog 3	Protein Coding	5.08	DISEASES inferred ¹⁴
7	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	5.03	DISEASES inferred ¹⁴
8	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	4.95	DISEASES inferred ¹⁴
9	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	4.94	DISEASES inferred ¹⁴
10	DDHD2	DDHD Domain Containing 2	Protein Coding	4.92	DISEASES inferred ¹⁴
11	ARL6IP5	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 5	Protein Coding	4.8	DISEASES inferred ¹⁴
12	PDXP	Pyridoxal Phosphatase	Protein Coding	4.78	DISEASES inferred ¹⁴
13	ATCAY	ATCAY Kinesin Light Chain Interacting Caytaxin	Protein Coding	4.75	DISEASES inferred ¹⁴
14	HIVEP3	HIVEP Zinc Finger 3	Protein Coding	4.71	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Laurence-Moon Syndrome

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

Sources

Pathways for Laurence-Moon Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.5	TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
2	Ciliary landscape ⁷⁴	11.98	TTC8 BBS9 BBS7 BBS5 BBS1
3	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.57	TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
4	Joubert syndrome ⁷⁴	11.43	TTC8 BBS9 BBS7 BBS5 BBS1
5	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.11	TTC8 BBS9 BBS7 BBS5 BBS10 BBS1

Sources

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

Sources for Laurence-Moon Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LNMS MCID: LRN001 MIFTS: 56	Laurence-Moon Syndrome (LNMS) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Laurence-Moon Syndrome (LNMS)

Aliases & Classifications for Laurence-Moon Syndrome

MalaCards integrated aliases for Laurence-Moon Syndrome:

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Laurence-Moon Syndrome

Related Diseases for Laurence-Moon Syndrome

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

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

Symptoms & Phenotypes for Laurence-Moon Syndrome

Human phenotypes related to Laurence-Moon Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Laurence-Moon Syndrome:

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

MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

Drugs & Therapeutics for Laurence-Moon Syndrome

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

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Cochrane evidence based reviews: laurence-moon syndrome

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Genes for Laurence-Moon Syndrome

Genes related to Laurence-Moon Syndrome (1 elite genes):

Variations for Laurence-Moon Syndrome

ClinVar genetic disease variations for Laurence-Moon Syndrome:

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

Expression for Laurence-Moon Syndrome

Pathways for Laurence-Moon Syndrome

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

GO Terms for Laurence-Moon Syndrome

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

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

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

Sources for Laurence-Moon Syndrome