ローレンス・ムーン症候群、Laurence-Moon症候群
- 関
- Laurence-Moon-Biedl syndrome
WordNet
- expose ones buttocks to; "moon the audience"
- any natural satellite of a planet; "Jupiter has sixteen moons"
- any object resembling a moon; "he made a moon lamp that he used as a night light"; "the clock had a moon that showed various phases"
- be idle in a listless or dreamy way (同)moon around, moon on
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- United States religious leader (born in Korea) who founded the Unification Church in 1954; was found guilty of conspiracy to evade taxes (born in 1920) (同)Sun Myung Moon
- the natural satellite of the Earth; "the average distance to the Moon is 384,400 kilometers"; "men first stepped on the moon in 1969" (同)moon
PrepTutorEJDIC
- 《the~》(天体の)『月』 / 〈U〉《しばしばa~》(さまざまに形を変える)『月』 / 〈C〉(惑星の)『衛星』(satellite) / 〈C〉《複数形で》(特に太陰暦の)ひと月 / 〈U〉月光(moonlight) / 《話》(あてもなく)ふらふらさまよう《+『about』(『around』)》;ぼんやり過ごす(眺める)《+『away』》
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- molybdenumの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/17 07:08:50」(JST)
[Wiki en表示]
| Laurence–Moon syndrome |
| Classification and external resources |
| ICD-10 |
Q87.8 |
| ICD-9 |
759.89 |
| OMIM |
245800 |
| DiseasesDB |
30072 |
| MeSH |
D007849 |
Laurence–Moon syndrome (LMS) is a rare autosomal recessive[1] genetic disorder associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation.
Contents
- 1 Genetics
- 2 Eponym and nomenclature
- 3 References
- 4 External links
Genetics
Laurence–Moon syndrome has an autosomal recessive pattern of inheritance.
LMS is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Eponym and nomenclature
It is named after the physicians John Zachariah Laurence and Robert Charles Moon who provided the first formal description of the condition in a paper published in 1866.[2][3]
In the past, LMS has also been referred to as Laurence–Moon–Bardet–Biedl or Laurence–Moon–Biedl–Bardet syndrome, but Bardet–Biedl syndrome (BBS) is now usually recognized as a separate entity.[4]
Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. For example, a 1999 epidemiological study of BBS and LMS reported that "BBS proteins interact and are necessary for the development of many organs." "Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct."[5] A more recent 2005 paper also suggests that the two conditions are not distinct.[6]
References
- ^ a b Farag, T. I.; Teebi, A. H. W. S. (Feb 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical genetics 33 (2): 78–82. doi:10.1111/j.1399-0004.1988.tb03414.x. PMID 3359670. edit
- ^ synd/3746 at Who Named It?
- ^ Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. Rev. 1866, 2:32–41
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 245800
- ^ Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1 June 1999). "New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437–46. doi:10.1136/jmg.36.6.437. PMC 1734378. PMID 10874630.
- ^ Moore S, Green J, Fan Y et al. (2005). "Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMID 15637713.
External links
- Laurence–Moon–Bardet–Biedl Syndrome
- Medical notes and references
- Congenital abnormality
- multiple abnormalities (Q87, 759.7)
|
|
| Craniofacial |
- Acrocephalosyndactylia
- Apert syndrome/Pfeiffer syndrome
- Saethre–Chotzen syndrome
- Carpenter syndrome
- Sakati–Nyhan–Tisdale syndrome
|
|
| other: |
- Möbius syndrome
- Goldenhar syndrome
- Cyclopia
- Baller–Gerold syndrome
|
|
|
| Short stature |
- 1q21.1 deletion syndrome
- Aarskog–Scott syndrome
- Cockayne syndrome
- Cornelia de Lange Syndrome
- Dubowitz syndrome
- Noonan syndrome
- Robinow syndrome
- Silver–Russell syndrome
- Seckel syndrome
- Smith–Lemli–Opitz syndrome
- Turner syndrome
|
|
| Limbs |
- Adducted thumb syndrome
- Holt–Oram syndrome
- Klippel–Trénaunay–Weber syndrome
- Nail–patella syndrome
- Rubinstein–Taybi syndrome
|
|
| Gastrulation/mesoderm: |
- Caudal regression syndrome
- ectromelia
- VACTERL association
|
|
|
| Overgrowth |
- Beckwith–Wiedemann syndrome
- Sotos syndrome
- Weaver syndrome
- Perlman syndrome
|
|
| Laurence–Moon–Bardet–Biedl |
- Bardet–Biedl syndrome
- Laurence–Moon syndrome
|
|
Combined/other,
known locus |
- 2 (Feingold syndrome)
- 3 (Zimmermann–Laband syndrome)
- 4/13 (Fraser syndrome)
- 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
- 12 (Keutel syndrome, Timothy syndrome)
- 15 (Marfan syndrome)
- 19 (Donohue syndrome)
- Multiple
|
|
UpToDate Contents
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English Journal
- Laurence Moon Bardet Biedl syndrome associated with dyslipoproteinaemia.
- Desai HH, Patel M, Gonsai RN.SourceDepartment of Pathology, BJ Medical College, Ahmedabad 380016.
- Journal of the Indian Medical Association.J Indian Med Assoc.2011 Sep;109(9):678.
- Laurance Moon Bardet Biedl (LMBB) syndrome is a rare disorder characterised by retinitis pigmentosa, hexadactyly, obesity, mental retardation and hypogonadism. In the present case report the patient presented with the features of Laurence Moon Bardet Biedl syndrome in association with dyslipoprotein
- PMID 22480106
- Diabetic ketoacidosis associated with tacrolimus in solid organ transplant recipients.
- Masood MQ, Rabbani M, Jafri W, Habib M, Saleem T.SourceSection of Endocrinology, Department of Medicine, Aga Khan University, Karachi, Pakistan.
- JPMA. The Journal of the Pakistan Medical Association.J Pak Med Assoc.2011 Mar;61(3):288-90.
- Diabetic ketoacidosis in patients receiving tacrolimus in the post-transplant setting is rare. We describe two such cases in solid-organ transplant recipients. The first patient, a 17-year-old male, presented with severe diabetic ketoacidosis and was managed with intravenous fluids and insulin infus
- PMID 21465949
Japanese Journal
- その他の特定の機序,疾患による糖尿病 (特集 糖尿病の新しい診断基準)
- 透析施行中に診断されたLaurence-Moon-Biedl syndromeの2例
- 岡田 浩司,小林 修三
- 日本透析医学会雑誌 = Journal of Japanese Society for Dialysis Therapy 32(4), 279-282, 1999-04-28
- NAID 10004921642
Related Links
- Clinical Synopsis TEXT A number sign (#) is used with this entry because of evidence that Laurence-Moon syndrome (LNMS) is caused by compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13. One such ...
- Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome
Related Pictures
★リンクテーブル★
[★]
- 英
- Laurence-Moon-Biedl syndrome
- 同
- (国試)Laurence-Moon-Biedl症候群。ローレンス・ムーン・バルデー・ビードル症候群, Laurence-Moon-Bardet-Biedl症候群
- 関
- 無月経、視床下部性無月経。ローレンス・ムーン症候群、バルデー・ビードル症候群
遺伝
分類
- 網膜変性症、肥満、強直性対麻痺、性器発育不全、精神遅滞。多指症なし。
- 網膜変性症、肥満、腎障害、男性の性器発育不全、指足指趾の異常
[★]
- 英
- Laurence-Moon syndrome
- 関
- ローレンス・ムーン・ビードル症候群、Laurence-Moon症候群
[★]
- 英
- Laurence-Moon syndrome
- 関
- ローレンス・ムーン症候群
[★]
モリブデン
- 関
- molybdenum
[★]
月
- 関
- month
[★]