Details of Disease | DrugMAP

General Information of Disease (ID: DIS9L96U)

Disease Name	Laurence-Moon syndrome
Synonyms	Laurence-MOON syndrome; LNMS; Laurence-Moon-Biedl syndrome; Laurence-Moon syndrome; LMS
Definition	A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.\|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISEV092: Congenital hypogonadotropic hypogonadism DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS9L96U: Laurence-Moon syndrome
Disease Identifiers	MONDO ID MONDO_0009514 MESH ID D007849 UMLS CUI C0023138 OMIM ID 245800 MedGen ID 44078 Orphanet ID 2377 SNOMED CT ID 232059000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	TTWAQU2	Limited	GermlineCausalMutation	[1]
PNPLA6	TTWAQU2	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	OTT5T45Q	Supportive	Autosomal recessive	[1]
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References

1	Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.