同: Online Mendelian Inheritancein Man

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/09/28 04:13:42」(JST)

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Online Mendelian Inheritance in Man (OMIM) is a database that catalogues all the known diseases with a genetic component, and — when possible — links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a catalogued gene.^[1] OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information (NCBI) and included in its search menus.^[2]

OMIM is part of a larger series of integrated databases called Entrez. This provides information about genes, chromosome location, DNA sequence, and protein sequence.

Versions

Mendelian Inheritance in Man was started in the early 1960s^[3] and is available as a book currently in its 12th edition.^[4] The online version, OMIM, has been available since 1987,^[5] moved to the World Wide Web by NCBI in 1995,^[3] and in 2004 contained more than 15,000 records.^[1]

Collection process and use

The information in OMIM was collected and processed from its inception under the leadership of Dr. Victor A. McKusick at Johns Hopkins University, assisted by a team of science writers and editors. Relevant articles are identified, discussed and written up in the relevant entries in the MIM database.

The database has been used as a resource for locating literature relevant to inherited conditions.^[6]

The MIM code

Every disease and gene is assigned a six digit number of which the first number classifies the method of inheritance.

If the initial digit is 1, the trait is deemed autosomal dominant; if 2, autosomal recessive; if 3, X-linked. Wherever a trait defined in this dictionary has a MIM number, the number from the 12th edition of MIM, is given in square brackets with or without an asterisk (asterisks indicate that the mode of inheritance is known; a number symbol (#) before an entry number means that the phenotype can be caused by mutation in any of two or more genes) as appropriate e.g., Pelizaeus-Merzbacher disease [MIM #312080] is an X-linked recessive disorder. As per the OMIM website, An asterisk (*) before an entry number indicates a gene.

A number symbol (#) before an entry number indicates that it is a descriptive entry, usually of a phenotype, and does not represent a unique locus. The reason for the use of the number symbol is given in the first paragraph of the entry. Discussion of any gene(s) related to the phenotype resides in another entry(ies) as described in the first paragraph.

A plus sign (+) before an entry number indicates that the entry contains the description of a gene of known sequence and a phenotype.

A percent sign (%) before an entry number indicates that the entry describes a confirmed mendelian phenotype or phenotypic locus for which the underlying molecular basis is not known.

No symbol before an entry number generally indicates a description of a phenotype for which the mendelian basis, although suspected, has not been clearly established or that the separateness of this phenotype from that in another entry is unclear.

A caret (^) before an entry number means the entry no longer exists because it was removed from the database or moved to another entry as indicated. ^[7]

Range of MIM codes: Method of inheritance^[3]

100000–299999: Autosomal loci or phenotypes (created before May 15, 1994)
300000–399999: X-linked loci or phenotypes
400000–499999: Y-linked loci or phenotypes
500000–599999: Mitochondrial loci or phenotypes
600000–above : Autosomal loci or phenotypes (created after May 15, 1994)

These codes have been used in the medical literature to provide a unified index to genetic diseases.^[8]

References

^ ^a ^b Hamosh, A.; Scott, A. F.; Amberger, J. S.; Bocchini, C. A.; McKusick, V. A. (2004). "Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders". Nucleic Acids Research 33 (Database issue): D514–D517. doi:10.1093/nar/gki033. PMC 539987. PMID 15608251. edit
^ "National Center for Biotechnology Information". Retrieved 2011-04-20.
^ ^a ^b ^c "OMIM Help". Retrieved 2011-04-20.
^ McKusick, VA (1998). Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. Baltimore, Maryland: Johns Hopkins University Press. ISBN 0-8018-5742-2.
^ McKusick, V.; Amberger, J. (1993). "The morbid anatomy of the human genome: Chromosomal location of mutations causing disease". Journal of medical genetics 30 (1): 1–26. doi:10.1136/jmg.30.1.1. PMC 1016229. PMID 8423603. edit
^ Gitomer, W.; Pak, C. (1996). "Recent advances in the biochemical and molecular biological basis of cystinuria". The Journal of Urology 156 (6): 1907–1912. doi:10.1016/S0022-5347(01)65389-8. PMID 8911353. edit
^ http://www.omim.org/help/faq#1.2
^ Tolmie, J.; Shillito, P.; Hughes-Benzie, R.; Stephenson, J. (1995). "The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". Journal of medical genetics 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332. edit

External links

OMIM home page

UpToDate Contents

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1. メンデル遺伝の概要 overview of mendelian inheritance
2. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
3. 複合免疫不全 combined immunodeficiencies
4. 重度複合型免疫不全（SCID）：特定の欠損 severe combined immunodeficiency scid specific defects
5. シェーグレン・ラルソン症候群 sjogren larsson syndrome

English Journal

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.

Gonzalez-Paredes FJ1, Ramos-Trujillo E1, Claverie-Martin F2.
Gene.Gene.2014 Aug 10;546(2):243-9. doi: 10.1016/j.gene.2014.06.004. Epub 2014 Jun 4.
Autosomal dominant polycystic kidney disease is the most common human monogenic disorder and is caused by mutations in the PKD1 or PKD2 genes. Most patients with the disease present mutations in PKD1, and a considerable number of these alterations are single base substitutions within the coding sequ
PMID 24907393

Association between the - 786T>C 1polymorphism in the promoter region of endothelial nitric oxide synthase (eNOS) and risk of coronary artery disease: a systematic review and meta-analysis.

Liu D1, Jiang Z2, Dai L3, Zhang X4, Yan C4, Han Y5.
Gene.Gene.2014 Jul 15;545(1):175-83. doi: 10.1016/j.gene.2013.09.099. Epub 2013 Oct 14.
BACKGROUND: A variety of studies have evaluated the association between the -786T>C polymorphism in the promoter region of endothelial nitric oxide synthase (eNOS) and risk of coronary artery disease (CAD). However, the results remain conflicting. To better understand the role of eNOS -786T>C
PMID 24135644

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Colombo M1, Blok MJ2, Whiley P3, Santamariña M4, Gutiérrez-Enríquez S5, Romero A6, Garre P6, Becker A7, Smith LD8, De Vecchi G1, Brandão RD2, Tserpelis D2, Brown M9, Blanco A10, Bonache S11, Menéndez M12, Houdayer C13, Foglia C1, Fackenthal JD14, Baralle D8, Wappenschmidt B7; kConFaB Investigators, Díaz-Rubio E15, Caldés T6, Walker L16, Díez O17, Vega A10, Spurdle AB18, Radice P1, De La Hoya M19.
Human molecular genetics.Hum Mol Genet.2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25.
Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle checkpoints. Several BRCA1 splicing isoforms have been described in public domain d
PMID 24569164

Japanese Journal

The A242T Mutation in the Low-density Lipoprotein Receptor-related Protein 5 Gene in One Chinese Family with Osteosclerosis

Wang Chun,Zhang Bao-Hong,Zhang Hao,He Jin-Wei,Hu Yun-Qiu,Li Miao,Yue Hua,Hu Wei-Wei,Gu Jie-Mei,Liu Yu-Juan,Fu Wen-Zhen,Zhang Zhen-Lin
Internal Medicine 52(2), 187-192, 2013
… Objective Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. …
NAID 130003365844

有機カチオントランスポーターOCTN2によるカルニチン輸送(<特集>ビタミン・バイオファクターのトランスポーター[III])

崔吉道
ビタミン 84(12), 604-609, 2010-12-25
… OMIM 212140). …
NAID 110008006993

データベースの現状と問題点 (特集遺伝性大腸癌を振り返る) -- (FAP)

岩間毅夫,石田秀行
大腸癌frontier 3(2), 104-108, 2010-06
NAID 40017206976

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