Laurence-Moon Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases
Aliases & Descriptions for Laurence-Moon Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Age of onset: Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 cognitive impairment, abnormality of the antitragus and finger syndactyly. An important gene associated with Laurence-Moon Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways is Cell adhesion_ECM remodeling. Affiliated tissues include eye, retina and pituitary, and related mouse phenotypes are cardiovascular system and cellular.
OMIM:49 Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (275400), including... (245800) more...
UniProtKB/Swiss-Prot:67 Laurence-Moon syndrome: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.
Wikipedia:68 Laurence–Moon syndrome (LMS) is a rare autosomal recessivegenetic disorder associated with retinitis... more...
Diseases related to Laurence-Moon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of diseases related to Laurence-Moon Syndrome:
Symptoms by clinical synopsis from OMIM:245800
Clinical features from OMIM:245800
Symptoms:51 (show all 26)
HPO human phenotypes related to Laurence-Moon Syndrome:(show all 33)
MalaCards organs/tissues related to Laurence-Moon Syndrome:33
Eye, Retina, Pituitary, Testes, Monocytes, T cells, Thyroid
MGI Mouse Phenotypes related to Laurence-Moon Syndrome:38
Articles related to Laurence-Moon Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Laurence-Moon Syndrome:67
Clinvar genetic disease variations for Laurence-Moon Syndrome:5
Search GEO for disease gene expression data for Laurence-Moon Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet