Preferred Label : Laurence-moon syndrome;
Symbol : LNMS;
CISMeF acronym : LNMS;
Type : Phenotype, molecular basis known;
Description : The features in the 4 sibs reported by Laurence and Moon (1866) and later by Hutchinson
(1882, 1900) were mental retardation, pigmentary retinopathy, hypogenitalism, and
spastic paraplegia. Solis-Cohen and Weiss (1925) considered the disorder identical
to that described by Bardet and Biedl (see BBS, 209900); they used the designation
Laurence-Biedl syndrome. The existence of a separate entity was suggested by Bowen
et al. (1965) and others. Farag and Teebi (1988) concluded that both the Bardet-Biedl
and the Laurence-Moon syndromes are increased in the Arab population of Kuwait. In
a 22-year prospective cohort study of 46 patients from 26 Newfoundland families with
BBS, Moore et al. (2005) found no apparent correlation of clinical or dysmorphic features
with genotype. They reported that of 2 patients clinically diagnosed as having Laurence-Moon
syndrome, one was from a consanguineous pedigree with linkage to the BBS5 gene, and
the other was a compound heterozygote for mutations in the MKKS gene (604896.0007
and 604896.0008). Moore et al. (2005) concluded that the features in this population
did not support the notion that BBS and Laurence-Moon syndrome are distinct. The patient
with mutations in the MKKS gene (NF-B5) had previously been reported by Katsanis et
al. (2000) as having BBS6, thus illustrating the difficulty in distinguishing these
2 disorders. *FIELD* RF 1. Bowen, P.; Ferguson-Smith, M. A.; Mosier, D.; Lee, C. S.
N.; Butler, H. G.: The Laurence-Moon syndrome. Association with hypogonadotrophic
hypogonadism and sex-chromosome aneuploidy. Arch. Intern. Med. 116: 598-604, 1965.
2. Farag, T. I.; Teebi, A. S.: Bardet-Biedl and Laurence-Moon syndromes in a mixed
Arab population. Clin. Genet. 33: 78-82, 1988. 3. Hutchinson, J.: On retinitis pigmentosa
and allied affections, as illustrating the laws of heredity. Ophthal. Rev. 1: 2-7
and 26-30, 1882. 4. Hutchinson, J.: Slowly progressive paraplegia and disease of the
choroids with defective intellect and arrested sexual development. Arch. Surg. 11:
118-122, 1900. 5. Katsanis, N.; Beales, P. L.; Woods, M. O.; Lewis, R. A.; Green,
J. S.; Parfrey, P. S.; Ansley, S. J.; Davidson, W. S.; Lupski, J. R.: Mutations in
MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl
syndrome. Nature Genet. 26: 67-70, 2000. 6. Laurence, J. Z.; Moon, R. C.: Four cases
of retinitis pigmentosa occurring in the same family and accompanied by general imperfection
of development. Ophthal. Rev. 2: 32-41, 1866. 7. Moore, S. J.; Green, J. S.; Fan,
Y.; Bhogal, A. K.; Dicks, E.; Fernandez, B. A.; Stefanelli, M.; Murphy, C.; Cramer,
B. C.; Dean, J. C. S.; Beales, P. L.; Katsanis, N.; Bassett, A. S.; Davidson, W. S;
Parfrey, P. S.: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland:
a 22-year prospective, population-based, cohort study. Am. J. Med. Genet. 132A: 352-360,
2005. 8. Solis-Cohen, S.; Weiss, E.: Dystrophia adiposogenitalis with atypical retinitis
pigmentosa and mental deficiency: the Laurence-Biedl syndrome. Am. J. Med. Sci. 169:
489-505, 1925. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 6 gene
(PNPLA6, 603197.0013);
Prefixed ID : #245800;
Origin ID : 245800;
UMLS CUI : C0023138;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
