Laurence-Moon Syndrome (LNMS)

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Disease Ontology 12 DOID:1930 OMIM 56 245800 KEGG 36 H02137 MeSH 43 D007849 NCIt 49 C34760 SNOMED-CT 67 232059000 MESH via Orphanet 44 D007849

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0023138 Orphanet 58 ORPHA2377 MedGen 41 C0023138 SNOMED-CT via HPO 68 128306009 128602000 13649004 192967009 193570009 204878001 204912007 22066006 228156007 236423003 237836003 247053007 247578003 249769001 258211005 268251006 28835009 299033004 34048007 34911001 414915002 414916001 42399005 43476002 44054006 563001 60700002 79607001 81793007 85102008 91138005 more UMLS 71 C0023138

KEGG : ³⁶ Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It has a clinical presentation similar to Oliver-McFarlane syndrome, including chorioretinopathy and pituitary dysfunction, though with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia. Laurence-Moon syndrome has historically been included in the Bardet-Biedl spectrum, though distinct given the marked choroidal atrophy, hypopituitarism with short stature, early neurological involvement, and the absence of polydactyly and renal disease. The retinal degeneration is quite distinct, with Laurence-Moon syndromes resembling choroideremia, and Bardet-Biedl syndrome resembling cone-rod dystrophy or retinitis pigmentosa with choroidal sparing.

MalaCards based summary : Laurence-Moon Syndrome, also known as lnms, is related to oliver-mcfarlane syndrome and retinitis pigmentosa, 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 Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, lymph node and eye, 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.

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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 : 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...

Clinical features from OMIM:

245800

Search NIH Clinical Center for Laurence-Moon Syndrome

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