What does Omim mean in genetics?

What does Omim mean in genetics?

Welcome to OMIM®, 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 all known mendelian disorders and over 16,000 genes.

What causes Alstrom Syndrome?

Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait.

How many Omim morbid genes are there?

Updated user guides and tutorials are available on the website. As of September 2018, OMIM had over 24,600 entries, and the OMIM Morbid Map Scorecard had 6,259 molecularized phenotypes connected to 3,961 genes.

Is there a cure for Alstrom Syndrome?

There is no cure for Alström syndrome. Treatments target the individual symptoms and can include diet, corrective lenses, hearing aids, medications for diabetes and heart issues and dialysis and transplantation in the case of kidney or liver failure.

What does OMIM stand for?

What is OMIM? 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.

Is OMIM a primary database?

Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick’s Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.

Is Alstrom Syndrome Rare?

Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.

Is Alstrom Syndrome genetic?

Alström syndrome is a rare genetic disorder that affects many body systems. Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease ( cardiomyopathy ).

How many diseases are there in OMIM?

OMIM has 450 entries with 5 or more AVs, 210 with 10 or more, 5 with 100 or more, and only 1 with more than 300, the HBB entry (141900). In addition to disease-causing mutations, the AVs include 69 selected polymorphisms with some phenotypic association.

What is the life expectancy of Alstrom Syndrome?

Symptoms first appear in infancy with great variability in age of onset and severity of clinical symptoms, even within families bearing identical mutations [4]. The severity of the disease, often leading to organ failure, results in a reduced life expectancy, rarely exceeding 50 years.

What OMIM tells us?

OMIM is an authoritative full-text overview of genes and genetic phenotypes that can be used by students, researchers and clinicians. Curation of the database and editorial decisions take place at Johns Hopkins University School of Medicine. Authors are located at Johns Hopkins and around the world.

What genes are associated with Hyperphenylalaninemia?

Mutations in the human PAH gene, which encodes phenylalanine hydroxylase are associated with varying degrees of hyperphenylalaninemia (HPA). The more severe of these manifest as a classic metabolic disease–phenylketonuria (PKU).

How many mutations are there in the ALMS1 gene?

Mutations in the ALMS1 gene have been found to be causative for Alström syndromewith a total of 81 disease-causing mutations. [4] Multiple mutations are known: the current (2007) total is 79. These include both nonsense and frameshift mutations. Most of the mutations have been found in exons8,10 and 16. Discovery[edit]

What causes Alstrom syndrome (alms)?

A number sign (#) is used with this entry because of evidence that Alstrom syndrome (ALMS) is caused by homozygous or compound heterozygous mutation in the ALMS1 gene (606844) on chromosome 2p13.

What does ALMS1 stand for?

Alstrom syndrome 1also known as ALMS1is a proteinwhich in humans is encoded by the ALMS1gene. [1][2] Contents 1Molecular biology 2Function

Where is ALMS1 found in the human body?

(2007) detected highest Alms1 expression in testis. Expression was moderate in brain, eye, lung, and olfactory bulb and low in spleen, liver, and kidney. Immunohistochemical analysis localized Alms1 to the base of cilia in cultured mouse kidney cells.