Omim Numbers

OMIM Entry % 601888 MALIGNANT HYPERTHERMIA

Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by

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OMIM Entry # 601887 MALIGNANT HYPERTHERMIA

Autosomal dominant. 3. CACNA1S. 114208. TEXT. A number sign (#) is used with this entry because of evidence that susceptibility to malignant hyperthermia-5 (MHS5) is conferred by heterozygous mutation in the CACNA1S gene (114208) on chromoso

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Selective IgA Deficiency

Introduction. Immunoglobulin (Ig) A deficiency (OMIM 137100) is defined as decreased or absent level of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age, in whom other causes of hypogammaglobulinemia have been excluded [1, 2].In general, serum IgA level of less than 7 mg/dL (0.07 g/L) is considered as …

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OMIM Entry - * 608892 - Online Mendelian Inheritance in Man

608892.0005

Lalani et al. (2006) sequenced the CHD7 gene in 110 individuals who had received a clinical diagnosis of CHARGE syndrome, and detected mutations in 64 (58%) (see, e.g., 608892.0005-608892.0007). Mutations were distributed throughout the …

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OMIM Entry - # 214800 - CHARGE SYNDROME

A number sign (#) is used with this entry because of evidence that CHARGE syndrome is caused by heterozygous mutation in the CHD7 on chromosome 8q12.There is also evidence that the phenotype is caused by mutation in the semaphorin-3E gene (SEMA3E; 608166) on chromosome 7q21.One such patient has been reported.

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OMIM Entry - * 600354 - SURVIVAL OF MOTOR NEURON 1; SMN1

Lefebvre et al. (1995) described an inverted duplication of a 500-kb element in normal chromosome 5q13 which contains the gene for spinal muscular atrophy type I (SMA1; 253300).They further narrowed the critical region to 140 kb within the telomeric portion of this region. This telomeric interval was found to contain a 20-kb gene encoding a novel 294-amino …

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OMIM Entry - * 120140 - COLLAGEN, TYPE II, ALPHA-1; COL2A1

Strom and Upholt (1984) isolated overlapping genomic DNA clones containing most of the coding sequences for chicken type II procollagen. They found that the chicken type II gene is 2 to 3 times more compact than the chicken type I alpha-2 gene (COL1A2; 120160) due to smaller introns.The coding sequence shows about 75% homology with type I alpha-1 (COL1A1; 120150) and 63 to …

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510002: SNP Microarray−Pediatric (Reveal®) | Labcorp

DNA copy number loss >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM annotated gene or within a region of clear clinical significance. UPD testing is recommended for patient results demonstrating a long contiguous region of homozygosity in a single chromosome >20 Mb interstitially or >10 Mb ...

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OMIM Entry - * 141900 - HEMOGLOBIN--BETA LOCUS; HBB

Polymorphism was found at the third nucleotide of the codon for amino acid number 50 (Wilson et al., 1977). The order of the genes in the beta-globin cluster was proved by restriction enzyme studies (Fritsch et al., 1979); starting with the 5-prime end, the order is gamma-G--gamma-A--delta--beta--Hpa I.

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Anemia, Pernicious - NORD (National Organization for Rare ...

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Intrinsic Factor Deficiency; IFD. Entry Number; 261000: Last Edit Date; 10/19/2005. McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Pernicious Anemia. Entry Number; 170900: Last Edit Date; 1/14/1995. Hart JA.

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Horner's Syndrome - NORD (National Organization for Rare ...

Chan CC, Paine M, O’Day J. Carotid dissection: a common cause of Horner’s syndrome. Clin Experiment Ophthalmol. 2001;29:411-15. FROM THE INTERNET. McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Horner Syndrome. Entry Number; 143000: Last Edit Date; 9/24/94. Horner’s Syndrome.

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OMIM Entry - # 272800 - TAY-SACHS DISEASE; TSD

Unlike human Tay-Sachs disease in which all neurons store GM2 ganglioside, no storage was evident in the olfactory bulb, cerebellar cortex, or spinal anterior horn cells of these mice. Sango et al. (1995) likewise found that disruption of the Hexa gene in mouse embryonic stem cells resulted in mice that showed no neurologic abnormalities ...

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OMIM Download Request

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on …

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OMIM Frequently Asked Questions

Online Mendelian Inheritance in Man (OMIM ®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression.OMIM is a continuation of Dr. Victor A. McKusick's Mendelian Inheritance in Man, which was published through 12 editions, the last in …

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