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LNMS
MCID: LRN001
MIFTS: 40
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Laurence-Moon Syndrome (LNMS)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Laurence-Moon Syndrome:Characteristics:Orphanet epidemiological data:59
laurence-moon syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015) HPO:32
laurence-moon syndrome:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
External Ids:
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NIH Rare Diseases
:
53
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 fundus dystrophy and oliver-mcfarlane syndrome, 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 Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and retina, and related phenotypes are obesity and finger syndactyly 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) UniProtKB/Swiss-Prot : 75 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:245800Human phenotypes related to Laurence-Moon Syndrome:59 32 (show all 30)
UMLS symptoms related to Laurence-Moon Syndrome:ataxia |
Drugs for Laurence-Moon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:(show all 11)
Cochrane evidence based reviews: laurence-moon syndrome |
MalaCards organs/tissues related to Laurence-Moon Syndrome:41
Eye,
Pituitary,
Retina,
Heart,
Testis,
Thyroid
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Articles related to Laurence-Moon Syndrome:
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Genes related to Laurence-Moon Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Laurence-Moon Syndrome:75
ClinVar genetic disease variations for Laurence-Moon Syndrome:6
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Search
GEO
for disease gene expression data for Laurence-Moon Syndrome.
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Pathways related to Laurence-Moon Syndrome according to KEGG:37
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Biological processes related to Laurence-Moon Syndrome according to GeneCards Suite gene sharing:
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