LNMS
MCID: LRN001
MIFTS: 38

Laurence-Moon Syndrome (LNMS) malady

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

Aliases & Classifications for Laurence-Moon Syndrome

Aliases & Descriptions for Laurence-Moon Syndrome:

Name: Laurence-Moon Syndrome 54 12 50 56 66 29 42 14 69
Laurence-Moon-Biedl Syndrome 12 66
Lnms 50 66

Characteristics:

Orphanet epidemiological data:

56
laurence-moon syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 245800
Disease Ontology 12 DOID:1930
MeSH 42 D007849
NCIt 47 C34760
Orphanet 56 ORPHA2377
MESH via Orphanet 43 D007849
UMLS via Orphanet 70 C0023138
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0023138
UMLS 69 C0023138

Summaries for Laurence-Moon Syndrome

NIH Rare Diseases : 50 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. last updated: 6/18/2015

MalaCards based summary : Laurence-Moon Syndrome, also known as laurence-moon-biedl syndrome, is related to oliver-mcfarlane syndrome and bardet-biedl syndrome, and has symptoms including ataxia, obesity and finger syndactyly. An important gene associated with Laurence-Moon Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include eye, pituitary and retina, and related phenotypes are Increased mitotic index and cardiovascular system

OMIM : 54 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...

UniProtKB/Swiss-Prot : 66 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.

Wikipedia : 71 Laurence–Moon syndrome (LMS) is a rare autosomal recessivegenetic 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 all 21)
id Related Disease Score Top Affiliating Genes
1 oliver-mcfarlane syndrome 11.2
2 bardet-biedl syndrome 10.4
3 hepatitis 10.2
4 retinitis pigmentosa 10.2
5 vaginitis 10.2
6 retinitis 10.2
7 strabismus 10.2
8 refractive error 10.2
9 congenital hepatic fibrosis 10.2
10 vaginal atresia 10.2
11 hypogonadism 10.2
12 macular degeneration, x-linked atrophic 10.0 RPGR RPGRIP1
13 neuropathy 10.0
14 puerperal pulmonary embolism 10.0 RPGR RPGRIP1
15 adult liposarcoma 10.0 RPGR RPGRIP1
16 epidural spinal canal angiolipoma 10.0 RPGR RPGRIP1
17 van buchem disease 9.9 RPGR RPGRIP1
18 oral squamous cell carcinoma 9.8
19 squamous cell carcinoma 9.8
20 colorectal cancer 9.8
21 macular degeneration, age-related, 6 8.9 MKKS NID1 PDXP PNPLA6 RET RPGR

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



Diseases related to Laurence-Moon Syndrome

Symptoms & Phenotypes for Laurence-Moon Syndrome

Symptoms by clinical synopsis from OMIM:

245800

Clinical features from OMIM:

245800

Human phenotypes related to Laurence-Moon Syndrome:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 obesity 56 32 Very frequent (99-80%) HP:0001513
3 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 cataract 56 32 Occasional (29-5%) HP:0000518
7 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
8 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
9 short stature 56 32 Frequent (79-30%) HP:0004322
10 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
11 brachycephaly 56 32 Occasional (29-5%) HP:0000248
12 strabismus 56 32 Occasional (29-5%) HP:0000486
13 epicanthus 56 32 Occasional (29-5%) HP:0000286
14 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
15 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
16 congenital hepatic fibrosis 56 32 Occasional (29-5%) HP:0002612
17 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
18 bilateral single transverse palmar creases 56 32 Occasional (29-5%) HP:0007598
19 hand polydactyly 56 32 Very frequent (99-80%) HP:0001161
20 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
21 iris coloboma 56 32 Occasional (29-5%) HP:0000612
22 displacement of the external urethral meatus 56 32 Occasional (29-5%) HP:0100627
23 abnormality of the antitragus 56 32 Very frequent (99-80%) HP:0009896
24 malformation of the heart and great vessels 56 Occasional (29-5%)
25 abnormality of the hand 32 HP:0001155
26 spastic paraplegia 32 HP:0001258
27 abnormality of cardiovascular system morphology 32 HP:0030680
28 scrotal hypoplasia 32 HP:0000046
29 micropenis 32 HP:0000054
30 pigmentary retinopathy 32 HP:0000580

UMLS symptoms related to Laurence-Moon Syndrome:


ataxia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased mitotic index GR00110-A-0 8.62 RET RPGRIP1

MGI Mouse Phenotypes related to Laurence-Moon Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 NID1 PNPLA6 RET RPGR MKKS
2 nervous system MP:0003631 9.43 MKKS NID1 PNPLA6 RET RPGR RPGRIP1
3 vision/eye MP:0005391 8.92 MKKS NID1 RPGR RPGRIP1

Drugs & Therapeutics for Laurence-Moon Syndrome

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Laurence-Moon Syndrome 29

Anatomical Context for Laurence-Moon Syndrome

MalaCards organs/tissues related to Laurence-Moon Syndrome:

39
Eye, Pituitary, Retina, Heart, Testis

Publications for Laurence-Moon Syndrome

Articles related to Laurence-Moon Syndrome:

id Title Authors Year
1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. ( 25480986 )
2015
2
Laurence-Moon syndrome? ( 3339909 )
1988
3
The pituitary gland in the Laurence-Moon syndrome. ( 3821182 )
1987
4
Laurence-Moon syndrome: evaluation of endocrinological function and phenotypic concordance and report of cases. ( 4508225 )
1972
5
The Laurence-Moon syndrome. Association with hypogonadotrophic hypogonadism and sex-chromosome aneuploidy. ( 5835363 )
1965
6
HYPOGONADOTROPHIC HYPOGONADISM IN THE LAURENCE-MOON SYNDROME. ( 14112243 )
1964
7
The Laurence-Moon syndrome, a pedigree with uncommon features. ( 14464057 )
1961
8
The Laurence-Moon syndrome with germinal aplasia of the testis: report of a case and review. ( 14428354 )
1960

Variations for Laurence-Moon Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Gly717Arg VAR_073409

ClinVar genetic disease variations for Laurence-Moon Syndrome:

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

Expression for Laurence-Moon Syndrome

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

Pathways for Laurence-Moon Syndrome

GO Terms for Laurence-Moon Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 8.62 MKKS RPGR

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.33 MKKS RPGR RPGRIP1
2 retina development in camera-type eye GO:0060041 8.96 RET RPGRIP1
3 visual perception GO:0007601 8.8 MKKS RPGR RPGRIP1

Sources for Laurence-Moon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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